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
DIP2C	22982	broad.mit.edu	37	10	430503	430503	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:430503T>A	uc001ifp.3	-	14	1829	c.1739A>T	c.(1738-1740)aAg>aTg	p.K580M	DIP2C_uc009xhj.1_Missense_Mutation_p.K276M	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	580						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGGCAGACCTTCTGGATCCA	0.552000														16			28		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85701308	85701308	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:85701308T>A	uc003hpd.3	-	25	4726	c.4318A>T	c.(4318-4320)Agt>Tgt	p.S1440C		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1440						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTGGGTTACTCTTGACCACA	0.502000														72			39		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114179475	114179475	+	Missense_Mutation	SNP	C	T	T	rs144113099		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:114179475C>T	uc003ibe.4	+	12	1394	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	ANK2_uc003ibd.4_Missense_Mutation_p.L411F|ANK2_uc003ibf.4_Missense_Mutation_p.L432F|ANK2_uc003ibc.2_Missense_Mutation_p.L408F|ANK2_uc011cgb.1_Missense_Mutation_p.L447F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	432					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGTCTGGCCTCACACCAAT	0.488000														48			21		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108822756	108822756	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:108822756C>T	uc003dxl.3	-	3	250	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	MORC1_uc011bhn.2_Missense_Mutation_p.E55K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	55					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCAGTTTTTCATTATCCACT	0.383000														42			21		0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57490531	57490531	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:57490531T>A	uc009zpg.3	-	21	2517	c.2515A>T	c.(2515-2517)Ata>Tta	p.I839L	STAT6_uc009zpe.3_Missense_Mutation_p.I790L|STAT6_uc001sna.3_Missense_Mutation_p.I790L|STAT6_uc009zpf.3_Missense_Mutation_p.I790L|STAT6_uc010srb.2_Missense_Mutation_p.I680L|STAT6_uc010src.2_Missense_Mutation_p.I680L|STAT6_uc010srd.2_Missense_Mutation_p.I680L	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	790					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGAGGGAATATGTCTTCACCA	0.617000														14			11		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131569139	131569139	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:131569139C>T	uc010tbm.2	+	15	2257	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	GPR133_uc001uit.4_Silent_p.L534L|GPR133_uc009zyo.3_5'UTR|GPR133_uc001uiv.1_Silent_p.L53L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	534					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGGAAACCTCACCTACTCCG	0.622000														38			24		0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750453	94750453	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:94750453G>A	uc003hta.1	+	0	376	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	126					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GAAAGTGCGGGAACAGCTGTG	0.687000														18			14		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602505	5602505	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:5602505C>T	uc010qzi.2	+	0	399	c.399C>T	c.(397-399)gtC>gtT	p.V133V	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCTGCTGTCCTGCTGGCCA	0.522000														40			20		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145871	42145871	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:42145871C>T	uc003gwn.3	-	2	1208	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	BEND4_uc003gwm.3_Missense_Mutation_p.E210K|BEND4_uc011byy.1_Missense_Mutation_p.E210K	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	210								p.E206K(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCCTGTCTTTCGTTGTAACTT	0.443000														10			6		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246585	65246585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:65246585G>A	uc001xht.3	-	19	4382	c.4331C>T	c.(4330-4332)tCa>tTa	p.S1444L	SPTB_uc001xhr.3_Missense_Mutation_p.S1444L|SPTB_uc001xhs.3_Missense_Mutation_p.S1444L|SPTB_uc001xhu.3_Missense_Mutation_p.S1444L|SPTB_uc010aqi.3_Missense_Mutation_p.S105L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1444					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTCCCATTGAAGGCACCTG	0.577000														85			58		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111177	114111177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:114111177C>T	uc003ynu.3	-	4	884	c.725G>A	c.(724-726)gGa>gAa	p.G242E	CSMD3_uc003ynt.3_Missense_Mutation_p.G202E|CSMD3_uc011lhx.2_Missense_Mutation_p.G242E|CSMD3_uc010mcx.1_Missense_Mutation_p.G242E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	242	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTGTTCCTCCACAAGCATC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				15			4		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56330219	56330219	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:56330219C>T	uc021wzo.1	-	1	1042	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	ERC2_uc003dhr.1_Missense_Mutation_p.R301Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	301						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R301R(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGACTCATCTCGGGCATTGAG	0.478000														119			60		0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10280055	10280055	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:10280055G>A	uc002wnq.2	+	6	759	c.547G>A	c.(547-549)Gag>Aag	p.E183K	SNAP25_uc002wnr.2_Missense_Mutation_p.E183K|SNAP25_uc002wns.2_Missense_Mutation_p.E120K|SNAP25_uc010gca.2_Missense_Mutation_p.E183K	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	183	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.M182I(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CAGGATCATGGAGAAGGTGAG	0.522000														17			18		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309303	24309303	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:24309303A>T	uc002nru.3	+	3	635	c.501A>T	c.(499-501)ttA>ttT	p.L167F	ZNF254_uc010xrk.2_Missense_Mutation_p.L82F	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	167					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAAATTTTTAAATTCAAACA	0.294000														27			15		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770030	15770030	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:15770030G>A	uc010xok.2	+	13	1448	c.1398_splice	c.e13-1	p.R466_splice	CYP4F3_uc010xol.2_Splice_Site_p.R466_splice|CYP4F3_uc002nbj.3_Splice_Site_p.R466_splice|CYP4F3_uc010xom.2_Splice_Site_p.R317_splice|CYP4F3_uc002nbk.3_Splice_Site_p.R466_splice|CYP4F3_uc010xon.2_Splice_Site_p.R176_splice	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	466					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTCCCCAAGGAACTGCATCG	0.662000														14			5		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548329	4548329	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:4548329C>T	uc010dud.2	-	12	1662	c.1400G>A	c.(1399-1401)gGg>gAg	p.G467E	SEMA6B_uc010xih.1_Missense_Mutation_p.G467E	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	467	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGACGTCCCTGAGGTGCT	0.647000														31			22		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932990	83932990	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:83932990G>A	uc002bjt.1	-	3	1101	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	BNC1_uc010uos.1_Missense_Mutation_p.S326F	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	338					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCCTCAGGGGATAACTGTGT	0.453000														39			23		0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50016276	50016276	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:50016276C>T	uc011dws.2	-	0	89	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	30					defense response to bacterium	extracellular region		p.A29S(1)|p.R30*(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGTCCCATGTCGGGCCTTTTC	0.313000														31			16		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51171752	51171752	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:51171752G>A	uc002psx.1	-	21	3484	c.3465C>T	c.(3463-3465)atC>atT	p.I1155I	SHANK1_uc002psw.1_Silent_p.I539I	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1155					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGATGGTGGGGATGGGGATGG	0.771000														18			4		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6820818	6820818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:6820818G>A	uc002mfu.1	+	1	407	c.310G>A	c.(310-312)Gat>Aat	p.D104N	VAV1_uc010xjh.1_Missense_Mutation_p.D104N|VAV1_uc010dva.1_Missense_Mutation_p.D104N|VAV1_uc002mfv.1_Missense_Mutation_p.D49N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	104	CH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGATGTGCAGGATTTTGGCAA	0.498000														60			48		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437901	125437901	+	Missense_Mutation	SNP	C	T	T	rs142794411	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:125437901C>T	uc011lzb.2	+	0	493	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CCTGGTGAATCGGCTCACCTT	0.428000														27			54		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822799	54822799	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:54822799G>A	uc002qfe.3	-	4	717	c.597C>T	c.(595-597)ttC>ttT	p.F199F	LILRA5_uc002qff.3_Silent_p.F187F|LILRA5_uc010yev.2_Silent_p.F199F|LILRA5_uc010yew.2_Silent_p.F187F|LILRA5_uc002qfg.1_Silent_p.F199F|LILRA5_uc002qfh.1_Silent_p.F187F	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	199	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCCCACAGGGAACAGGGCCT	0.587000														31			22		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643802	121643802	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:121643802C>T	uc003eep.2	+	12	1199	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	SLC15A2_uc011bjn.1_Missense_Mutation_p.P318L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	349					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GTTCTAAATCCCCTTCTGGTT	0.388000														67			25		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602310	58602310	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:58602310C>T	uc001nnd.4	-	6	608	c.477_splice	c.e6-1	p.K159_splice	GLYATL2_uc009ymq.3_Splice_Site_p.K159_splice	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	159						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGTTTCCTTCCCTGTGAAGAA	0.348000														14			4		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120776803	120776803	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:120776803C>T	uc002tmg.3	+	1	334	c.143C>T	c.(142-144)tCc>tTc	p.S48F	EPB41L5_uc010flk.3_Missense_Mutation_p.S48F|EPB41L5_uc010fll.3_Missense_Mutation_p.S48F|EPB41L5_uc002tmh.4_Missense_Mutation_p.S48F	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	48	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGTCGGGTGTCCCTTCTGGAT	0.473000														26			58		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26792132	26792132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:26792132G>A	uc001iss.3	+	5	781	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	APBB1IP_uc009xks.1_Missense_Mutation_p.E154K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	154	Poly-Glu.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCAGGAAGAGGAAGAAGCCCA	0.433000														4			13		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340152	55340152	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:55340152G>A	uc010rih.2	+	0	549	c.549G>A	c.(547-549)ttG>ttA	p.L183L		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AGCCCTTGTTGAAACAAGCCT	0.438000														46			28		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398035	23398035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:23398035G>A	uc004dal.4	+	1	687	c.679G>A	c.(679-681)Gag>Aag	p.E227K	PTCHD1_uc010nfu.2_Missense_Mutation_p.E227K	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	227					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.G226V(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CATGGTGGCTGAGAGGTGGGA	0.517000														112			70		0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671675	238671675	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:238671675C>T	uc002vxe.3	+	10	1611	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	LRRFIP1_uc002vxc.3_Intron|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Missense_Mutation_p.S416L|LRRFIP1_uc002vxf.3_Missense_Mutation_p.S384L	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	440					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ACAGTGGCCTCGTGTCCTTTA	0.498000														13			21		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824766	74824766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:74824766G>A	uc021rwl.1	+	0	1280	c.1280G>A	c.(1279-1281)aGg>aAg	p.R427K	VRTN_uc001xpw.4_Missense_Mutation_p.R427K	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	427					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TTCAAACGCAGGTTCCCTGGC	0.572000														25			23		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182363373	182363373	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:182363373G>A	uc002unu.3	+	14	2327	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	ITGA4_uc010frj.1_Missense_Mutation_p.D4N	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	522					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CATGAGTTTGGATGTGAACAG	0.333000														7			19		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215814034	215814034	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:215814034G>A	uc001hku.1	-	67	15221	c.14834C>T	c.(14833-14835)tCt>tTt	p.S4945F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4945	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACACCACAGACAAATTGCT	0.532000										HNSCC(13;0.011)				25			13		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17221574	17221574	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:17221574G>A	uc002dfa.3	-	9	2257	c.2172C>T	c.(2170-2172)gtC>gtT	p.V724V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	724					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGATCTTGAAGACTTTTTTCG	0.493000														83			57		0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328306	62328307	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:62328306_62328307CC>TT	uc002yfy.3	+	4	814_815	c.186_187CC>TT	c.(184-189)tgccgc>tgTTgc	p.R63C	RTEL1_uc002yfu.2_3'UTR|RTEL1_uc011abd.2_3'UTR|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_3'UTR|RTEL1_uc021wge.1_3'UTR|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.3_Missense_Mutation_p.R63C	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	63					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGCGGCCGTGCCGCCGAGACAG	0.683000														9			7		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392724	124392724	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:124392724G>A	uc001lgk.1	+	48	6134	c.6028G>A	c.(6028-6030)Ggc>Agc	p.G2010S	DMBT1_uc001lgl.1_Missense_Mutation_p.G2000S|DMBT1_uc001lgm.1_Missense_Mutation_p.G1382S|DMBT1_uc021qaf.1_Missense_Mutation_p.G2010S|DMBT1_uc021qag.1_Missense_Mutation_p.G2000S|DMBT1_uc021qah.1_Missense_Mutation_p.G1382S|DMBT1_uc009xzz.1_Missense_Mutation_p.G2009S|DMBT1_uc010qtx.1_Missense_Mutation_p.G730S|DMBT1_uc009yab.1_Missense_Mutation_p.G713S|DMBT1_uc009yac.1_Missense_Mutation_p.G304S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2010	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTCCTGCGGAGGCTTCCTATC	0.478000														14			27		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375880	93375880	+	Missense_Mutation	SNP	G	A	A	rs71494416		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:93375880G>A	uc022bjs.1	-	0	230	c.230C>T	c.(229-231)tCc>tTc	p.S77F	DIRAS2_uc004aqx.1_Missense_Mutation_p.S77F	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	77					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GTGCCCTTTGGAGATGGACAG	0.562000														21			40		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64599047	64599047	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:64599047C>T	uc001xgl.3	+	76	14635	c.14405C>T	c.(14404-14406)cCt>cTt	p.P4802L	SYNE2_uc001xgm.3_Missense_Mutation_p.P4802L|SYNE2_uc021ruh.1_Missense_Mutation_p.P4719L|SYNE2_uc010apy.3_Missense_Mutation_p.P1187L|SYNE2_uc010apz.1_Missense_Mutation_p.P694L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4802					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAATACTTCCTTCTTTATTG	0.358000														41			20		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336926	151336926	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:151336926T>G	uc010ntk.1	-	9	1493	c.1253A>C	c.(1252-1254)aAg>aCg	p.K418T		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	418					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGCAGCGCCCTTGGAGATGGT	0.557000														74			72		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981596	64981596	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:64981596C>T	uc002eoi.3	-	12	2735	c.2301G>A	c.(2299-2301)ttG>ttA	p.L767L	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Silent_p.L641L	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	767					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AATCATAGTCCAAGTCTGAAT	0.458000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				38			21		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32334079	32334079	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:32334079C>T	uc021yvt.1	-	5	340	c.167_splice	c.e5-1	p.G56_splice	C6orf10_uc011dpx.2_Splice_Site_p.G56_splice|C6orf10_uc021yvs.1_Splice_Site_p.G56_splice|C6orf10_uc011dpz.2_Splice_Site_p.G56_splice|C6orf10_uc021yvu.1_Splice_Site_p.G56_splice|C6orf10_uc021yvv.1_Splice_Site_p.G56_splice	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	56						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATGTCGGGATCCTAAAAGAGA	0.264000														31			13		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28358283	28358283	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:28358283G>A	uc001zbj.3	-	91	14272	c.14166C>T	c.(14164-14166)ttC>ttT	p.F4722F	HERC2_uc001zbi.3_Silent_p.F411F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4722	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCCCCAGACGAAGCGAAGGA	0.627000														22			16		0	0	1	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034838	107034839	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:107034838_107034839GG>AA	uc001ysz.3	-	1	270_271	c.241_242CC>TT	c.(241-243)ccg>TTg	p.P81L	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		TTGGAAGGACGGGCTGTATCTG	0.589000														48			21		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838390	16838390	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:16838390G>A	uc010rcu.1	-	10	1838	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PLEKHA7_uc001mmo.3_Missense_Mutation_p.S608L|PLEKHA7_uc010rcv.2_Missense_Mutation_p.S182L|PLEKHA7_uc001mmn.3_Missense_Mutation_p.S316L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	608	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATCCCCCAGCGAGATGTCCAC	0.662000														32			22		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325615	57325615	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:57325615C>T	uc002qnu.2	-	6	4546	c.4195G>A	c.(4195-4197)Gtg>Atg	p.V1399M	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.V1370M|PEG3_uc002qnv.2_Missense_Mutation_p.V1399M|PEG3_uc002qnw.2_Missense_Mutation_p.V1275M|PEG3_uc002qnx.2_Missense_Mutation_p.V1273M|PEG3_uc010etr.2_Missense_Mutation_p.V1399M	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1399	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCAGCCTCCACTTCTGGCTCA	0.582000														39			24		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112492208	112492208	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:112492208G>T	uc001ttm.3	-	13	1670	c.1612C>A	c.(1612-1614)Cag>Aag	p.Q538K	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.Q510K|NAA25_uc009zwa.2_Missense_Mutation_p.Q538K	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	538						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTATCATGCTGGATATGCTTA	0.428000														21			11		2.27111e-07	2.28776e-07	1	1	0
OR10S1	219873	broad.mit.edu	37	11	123847857	123847857	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:123847857A>T	uc001pzm.1	-	0	542	c.542T>A	c.(541-543)cTc>cAc	p.L181H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCCACAGTAGAGCAGGCGGAA	0.547000														30			16		0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44530080	44530080	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:44530080G>A	uc003tkz.3	-	0	306	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	40										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GCAAGCGATAGAAGTCTGTCT	0.657000														5			3		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309250	248309250	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:248309250C>T	uc010pze.2	+	0	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTGATCGCTCCCCTATGCAGG	0.517000														69			35		0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401670	23401670	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:23401670G>A	uc002zwt.3	-	6	1175	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	339							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CACTGATGGCGATCCGGGCTG	0.547000														42			38		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919741	48919741	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:48919741G>A	uc010slu.2	+	0	327	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCACTGCAGGGACTGAAGCCT	0.522000														31			14		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150911612	150911612	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:150911612G>A	uc004fey.1	+	6	861	c.637G>A	c.(637-639)Gac>Aac	p.D213N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	213					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACTGCGAGACAACTACAT	0.507000														28			13		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584687	1584687	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:1584687G>A	uc022brv.1	-	0	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.F255F	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	255						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGGAGCACGAAGTTGTTGG	0.652000			T	CRLF2	"""B-ALL, Downs associated ALL"""									25			11		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857077	9857077	+	Missense_Mutation	SNP	G	A	A	rs59975221		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:9857077G>A	uc010uym.2	-	13	4634	c.4324C>T	c.(4324-4326)Ccc>Tcc	p.P1442S	GRIN2A_uc002czo.4_Missense_Mutation_p.P1442S|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1442					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAACCCTGGGGGTAGAGTAC	0.398000														16			16		0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958001	57958001	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:57958001C>T	uc010rka.2	+	0	96	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CGGAGTTCTTCCTTACTGCAT	0.478000														20			17		0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91927910	91927910	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:91927910G>A	uc001xzn.3	-	13	3028	c.2206C>T	c.(2206-2208)Ctt>Ttt	p.L736F	SMEK1_uc001xzm.3_Missense_Mutation_p.L723F|SMEK1_uc001xzo.3_Missense_Mutation_p.L723F|SMEK1_uc010atz.3_Missense_Mutation_p.L497F	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	736						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CGTCCAGAAAGGTTTGTTTTC	0.428000														68			41		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71634912	71634912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:71634912G>A	uc001jql.3	+	4	964	c.428G>A	c.(427-429)gGa>gAa	p.G143E	COL13A1_uc021prz.1_Missense_Mutation_p.G143E|COL13A1_uc021psa.1_Intron|COL13A1_uc021psb.1_Intron|COL13A1_uc001jqk.2_Missense_Mutation_p.G143E|COL13A1_uc021psc.1_Missense_Mutation_p.G143E|COL13A1_uc021psd.1_Missense_Mutation_p.G143E|COL13A1_uc010qjf.2_Intron|COL13A1_uc021pse.1_Intron|COL13A1_uc021psf.1_Missense_Mutation_p.G143E|COL13A1_uc021psg.1_Missense_Mutation_p.G143E|COL13A1_uc021psh.1_Missense_Mutation_p.G143E	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	143	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGGATGCCTGGACGTGTGGTG	0.547000														3			13		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334369	35334369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:35334369C>T	uc001byc.3	-	6	2322	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	774					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGCGCTCTATCCAGGAGTCAC	0.736000														11			7		0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568524	99568524	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:99568524C>T	uc003dtm.3	-	4	2459	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.E666K|FILIP1L_uc010hpf.3_Missense_Mutation_p.E242K|FILIP1L_uc010hpg.3_Missense_Mutation_p.E426K|FILIP1L_uc003dtn.3_Missense_Mutation_p.E426K|FILIP1L_uc021xbr.1_Missense_Mutation_p.E426K|FILIP1L_uc003dtp.1_Missense_Mutation_p.E426K	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	666						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGTCTCGTTCATTAGCATAC	0.378000														47			24		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129189888	129189888	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:129189888T>C	uc022cdu.1	+	11	4957	c.4913T>C	c.(4912-4914)aTc>aCc	p.I1638T	BCORL1_uc004evc.2_Missense_Mutation_p.I474T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1638					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCTCGAGGATCTTTCAGGCC	0.572000														116			59		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123556299	123556299	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:123556299G>A	uc010nqy.3	-	23	4358	c.4294C>T	c.(4294-4296)Cta>Tta	p.L1432L	ODZ1_uc011muj.2_Silent_p.L1431L|ODZ1_uc004euj.3_Silent_p.L1425L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1425					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GCTGACTCTAGAGTGGAGTGA	0.537000														44			23		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223795369	223795369	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:223795369C>T	uc002vni.3	+	13	2022	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	ACSL3_uc002vnj.3_Missense_Mutation_p.P524L	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	524					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AAGCCACACCCCAGGGGTGAA	0.328000			T	ETV1	prostate									2			2		0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45023111	45023111	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:45023111G>A	uc010zxr.1	-	2	221	c.11C>T	c.(10-12)cCg>cTg	p.P4L	ELMO2_uc002xrt.1_Missense_Mutation_p.P4L|ELMO2_uc002xru.1_Missense_Mutation_p.P4L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P4L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	4					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AATGTCTGACGGTGGTGGCAT	0.502000														22			10		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129742840	129742840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:129742840G>A	uc001qfg.3	-	20	2898	c.2777C>T	c.(2776-2778)gCt>gTt	p.A926V	NFRKB_uc001qfi.3_Missense_Mutation_p.A901V|NFRKB_uc001qfh.3_Missense_Mutation_p.A924V|NFRKB_uc010sbw.1_Missense_Mutation_p.A911V|NFRKB_uc009zcr.3_Missense_Mutation_p.A187V	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	901					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGCACTGGGAGCAGAGGTCCC	0.592000														29			20		0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112337084	112337084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:112337084C>T	uc003kqh.3	+	5	840	c.616C>T	c.(616-618)Cct>Tct	p.P206S	DCP2_uc010jcc.3_Missense_Mutation_p.P206S|DCP2_uc011cwa.2_5'UTR	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA.	206	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus	RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TGAGAAATTGCCTTGTCATAG	0.333000														36			15		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501361	12501361	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:12501361T>C	uc010dyt.3	-	3	2055	c.1851A>G	c.(1849-1851)ggA>ggG	p.G617G	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACGGGTTCTCTCCAGTGTGAG	0.403000														55			32		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200466	155200466	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:155200466C>T	uc021xge.1	-	22	3650	c.3373G>A	c.(3373-3375)Gga>Aga	p.G1125R	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.G1087R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1125					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGGACGCTTCCTGACAAGATG	0.458000														25			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725539	140725539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140725539C>T	uc003ljm.2	+	0	1939	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Nonsense_Mutation_p.Q647*	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	649	Cadherin 6.				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)			GGTGGCCGTCCAGGACCACGG	0.716000														71			45		0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152153	58152153	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:58152153C>T	uc002qpr.2	+	5	794	c.491C>T	c.(490-492)tCc>tTc	p.S164F	ZNF211_uc010yhb.1_Missense_Mutation_p.S104F|ZNF211_uc002qpp.2_Missense_Mutation_p.S113F|ZNF211_uc002qpq.2_Missense_Mutation_p.S100F|ZNF211_uc002qpt.2_Missense_Mutation_p.S112F|ZNF211_uc010yhc.1_Missense_Mutation_p.S112F|ZNF211_uc010yhe.1_Missense_Mutation_p.S91F|ZNF211_uc010yhd.1_Missense_Mutation_p.S39F	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCAGGACTTCCAAAGAAGGT	0.438000														14			12		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2779094	2779094	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:2779094G>A	uc002wgu.3	-	2	504	c.430C>T	c.(430-432)Cga>Tga	p.R144*	CPXM1_uc010gas.3_Nonsense_Mutation_p.R144*	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	144	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGCCGTCCTCGGTGTGGTCCA	0.612000														28			19		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566782	42566782	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:42566782G>A	uc002osj.1	-	3	401	c.366C>T	c.(364-366)ccC>ccT	p.P122P	GRIK5_uc010eib.1_Silent_p.P41P	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	122						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)	GTGTCTCCTCGGGACCCACCT	0.622000														47			27		0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309670	22309670	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:22309670G>A	uc001wbx.2	+	2	154	c.53_splice	c.e2-1	p.W18_splice	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		TTTTCACAGGGGTTTGGAGCC	0.468000														22			7		0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25078796	25078796	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:25078796C>T	uc001wpr.1	-	0	69	c.24G>A	c.(22-24)ttG>ttA	p.L8L	GZMH_uc010aly.1_Silent_p.L8L|GZMH_uc010alz.1_Silent_p.L8L	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	8					apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GAAGAAAGGCCAACAGGAGGA	0.527000														42			14		0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61811238	61811239	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:61811238_61811239GG>AA	uc011cqr.2	+	19	2056_2057	c.1926_1927GG>AA	c.(1924-1929)ttggta>ttAAta	p.V643I	IPO11_uc003jtc.3_Missense_Mutation_p.V603I|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	603						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TGGGATGTTTGGTACAATATTT	0.342000														35			20		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420863	11420863	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:11420863C>T	uc001qzs.3	-	2	358	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.632000														171			144		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906794	158906794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:158906794G>A	uc001ftb.3	+	1	344	c.94G>A	c.(94-96)Gat>Aat	p.D32N	PYHIN1_uc001fta.4_Missense_Mutation_p.D32N|PYHIN1_uc001ftc.3_Missense_Mutation_p.D32N|PYHIN1_uc001ftd.3_Missense_Mutation_p.D32N|PYHIN1_uc001fte.3_Missense_Mutation_p.D32N	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	32	DAPIN.				cell cycle	nuclear speck		p.D32N(6)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTGAGTAACGATTTAAAACT	0.338000														23			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736453	140736453	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140736453C>T	uc003ljq.2	+	0	1686	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.I562I	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	564	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGAGATCCTGTACCCCA	0.582000														109			70		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27401845	27401845	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:27401845G>A	uc002hdt.1	-	41	6266	c.6108C>T	c.(6106-6108)tcC>tcT	p.S2036S	MYO18A_uc010wbc.1_Silent_p.S1554S|MYO18A_uc002hds.2_Silent_p.S1563S|MYO18A_uc010csa.1_Silent_p.S1984S|MYO18A_uc002hdu.1_Silent_p.S2021S|TIAF1_uc002hdv.1_5'UTR	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	2036					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GATAACTGTGGGAGTATCGCG	0.612000														46			7		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52556396	52556396	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:52556396G>A	uc010bff.3	-	8	1200	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.P246L	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	346	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CACTAACTGAGGACCTCTCGT	0.473000														15			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059370	9059370	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9059370C>T	uc002mkp.3	-	2	28280	c.28076G>A	c.(28075-28077)aGg>aAg	p.R9359K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9361	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						TGATTCTTTCCTTGTGAGGGG	0.512000														43			35		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67210939	67210939	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:67210939C>T	uc010dfa.1	-	9	1791	c.912G>A	c.(910-912)ggG>ggA	p.G304G	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Silent_p.G196G	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	304					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGTATGAATCCCCAGAGGGAT	0.294000														27			18		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51768743	51768743	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:51768743G>A	uc002pwb.1	+	2	525	c.144G>A	c.(142-144)gtG>gtA	p.V48V	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	48						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						CCGTGGGTGTGGATGGCATGG	0.577000														17			15		0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737457	62737457	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:62737457C>T	uc011abt.2	-	0	728	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	243						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGAGCGGAGCCGCACGGCCCG	0.667000														13			6		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:75072544C>T	uc001dgg.3	-	9	1449	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.P204P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	410								p.P410P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413000														49			38		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100199436	100199436	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:100199436C>T	uc002taf.3	-	15	2836	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	AFF3_uc002tag.3_Missense_Mutation_p.E873K|AFF3_uc010fiq.1_Missense_Mutation_p.E873K|AFF3_uc010yvr.1_Missense_Mutation_p.E1026K|AFF3_uc002tah.1_Missense_Mutation_p.E898K	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	873					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCATTTTTTCATTTTTATTT	0.413000														12			23		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67589053	67589053	+	Silent	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:67589053A>G	uc001xiy.3	+	15	2729	c.1608A>G	c.(1606-1608)gaA>gaG	p.E536E	GPHN_uc001xix.3_Silent_p.E569E|GPHN_uc010tss.2_Silent_p.E582E|GPHN_uc010tst.2_Silent_p.E505E|GPHN_uc010tsu.2_Silent_p.E459E	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	536	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CAATTCAGGAACATGGTTACC	0.388000			T	MLL	AL									22			11		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24809053	24809053	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:24809053G>A	uc001iru.4	+	11	2581	c.2178_splice	c.e11-1	p.C726_splice	KIAA1217_uc001irs.3_Splice_Site_p.C646_splice|KIAA1217_uc001irt.4_Splice_Site_p.C691_splice|KIAA1217_uc010qcy.2_Splice_Site_p.C691_splice|KIAA1217_uc010qcz.2_Splice_Site_p.C691_splice|KIAA1217_uc001irv.1_Splice_Site_p.C541_splice|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Splice_Site_p.C409_splice|KIAA1217_uc001irz.3_Splice_Site_p.C409_splice|KIAA1217_uc001irx.3_Splice_Site_p.C409_splice|KIAA1217_uc001iry.3_Splice_Site_p.C409_splice	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	726					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCCGCAGCGAGTTGGAAGA	0.557000														17			35		0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99126212	99126212	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:99126212C>T	uc001tfz.3	+	26	4192	c.3615C>T	c.(3613-3615)gtC>gtT	p.V1205V	APAF1_uc001tfy.3_Silent_p.V1194V|APAF1_uc001tga.3_Silent_p.V1151V|APAF1_uc001tgb.3_Silent_p.V1162V|APAF1_uc001tgc.3_Missense_Mutation_p.H324Y|APAF1_uc009zto.3_Silent_p.V529V	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	1205					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GGAACGTTGTCACTGGGGAAT	0.388000														15			8		0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600943	161600943	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:161600943C>T	uc009wul.3	-	0	310	c.50G>A	c.(49-51)gGc>gAc	p.G17D	FCGR3B_uc021pdo.1_Intron	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGACCAAGCCGACTAGACA	0.512000														9			10		0	0	1	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880948	100880948	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:100880948C>T	uc022cap.1	+	0	979	c.979C>T	c.(979-981)Caa>Taa	p.Q327*	ARMCX3_uc004ehz.1_Nonsense_Mutation_p.Q327*|ARMCX3_uc004eia.1_Nonsense_Mutation_p.Q327*|ARMCX3_uc004eib.1_Nonsense_Mutation_p.Q327*|ARMCX3_uc004eic.1_Nonsense_Mutation_p.Q327*	NM_177948	NP_808817	Q9UH62	ARMX3_HUMAN	Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 3, mRNA.	327						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TACTCAGAATCAATTCGGTGA	0.308000														40			26		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44941443	44941443	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:44941443G>A	uc001myg.3	+	4	518	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	TSPAN18_uc001mye.4_Missense_Mutation_p.E170K|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	170						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CCTGGATAGTGAAGAGGTGCC	0.587000														66			40		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113687	18113687	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:18113687C>T	uc021veh.1	+	0	1412	c.1412C>T	c.(1411-1413)tCa>tTa	p.S471L	KCNS3_uc002rcv.3_Missense_Mutation_p.S471L|KCNS3_uc002rcw.3_Missense_Mutation_p.S471L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	471					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACAGATGCTTCAAGCATTGAA	0.453000														12			18		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160663398	160663398	+	Missense_Mutation	SNP	C	T	T	rs141405449	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:160663398C>T	uc003qtf.3	-	7	1490	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	439					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCCCATTCTTCCCAAGCATGA	0.428000														12			22		0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183908823	183908823	+	Silent	SNP	C	T	T	rs151176558	by1000genomes	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:183908823C>T	uc003fmz.2	+	14	1561	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	ABCF3_uc003fna.2_Silent_p.V470V|ABCF3_uc003fnb.2_Silent_p.V157V	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	476							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCAGAGGTCGTAATGAAGT	0.507000														22			7		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78598741	78598741	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:78598741A>T	uc001syp.3	+	38	7034	c.6861A>T	c.(6859-6861)gaA>gaT	p.E2287D	NAV3_uc001syo.3_Missense_Mutation_p.E2265D|NAV3_uc010sub.2_Missense_Mutation_p.E1744D|NAV3_uc009zsf.3_Missense_Mutation_p.E1096D	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2287						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACCATGGGAAGATCCTTCAA	0.463000										HNSCC(70;0.22)				13			11		0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73491468	73491468	+	Missense_Mutation	SNP	C	T	T	rs142820235	by1000genomes	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:73491468C>T	uc021vjh.1	-	4	1834	c.1744G>A	c.(1744-1746)Gtg>Atg	p.V582M		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	582						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TGGCGGGCCACGAAGCGCCAG	0.627000														18			45		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253298	65253298	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:65253298G>A	uc001xht.3	-	14	3436	c.3385C>T	c.(3385-3387)Caa>Taa	p.Q1129*	SPTB_uc001xhr.3_Nonsense_Mutation_p.Q1129*|SPTB_uc001xhs.3_Nonsense_Mutation_p.Q1129*|SPTB_uc001xhu.3_Nonsense_Mutation_p.Q1129*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1129					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTCTGGCCTTGGATCACTTTC	0.602000														24			23		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682348	31682348	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:31682348C>A	uc011kae.2	+	10	1454	c.1442C>A	c.(1441-1443)cCa>cAa	p.P481Q	CCDC129_uc011kad.1_Missense_Mutation_p.P465Q|CCDC129_uc003tcj.1_Missense_Mutation_p.P455Q|CCDC129_uc003tci.1_Missense_Mutation_p.P306Q|CCDC129_uc003tck.1_Missense_Mutation_p.P363Q	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	455										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGTAGAAAGCCAAGAGATCAG	0.512000														24			12		2.80697e-09	2.83621e-09	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20248748	20248748	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:20248748G>A	uc010tku.2	+	0	267	c.267G>A	c.(265-267)agG>agA	p.R89R		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89S(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTGGAGAGGAAGATAATTT	0.448000														221			60		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28962815	28962815	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:28962815G>A	uc003nlu.2	-	6	2475	c.1964C>T	c.(1963-1965)tCt>tTt	p.S655F	ZNF311_uc011dlk.1_Missense_Mutation_p.S563F|ZNF311_uc003nlv.2_Missense_Mutation_p.S563F	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGAGGTCTGAGAAACAGTCAC	0.423000														10			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719003	140719003	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140719003G>A	uc003ljk.2	+	0	650	c.465G>A	c.(463-465)aaG>aaA	p.K155K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.K155K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	155	Cadherin 2.				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)			TTCCTCTTAAGAATGCGCATG	0.488000														30			24		0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115176	220115176	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:220115176C>G	uc002vkt.1	-	3	1303	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	TUBA4A_uc010zkz.1_Missense_Mutation_p.E400D|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	415					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAACTCACCCTCCTCCATGC	0.597000														21			39		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22205121	22205121	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:22205121G>A	uc001wbp.2	+	1	234	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		CAAGGACCACGATTTATTATT	0.448000														10			11		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902907	22902907	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:22902907G>A	uc001bfx.1	+	2	482	c.357G>A	c.(355-357)aaG>aaA	p.K119K	EPHA8_uc001bfw.3_Silent_p.K119K	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	119						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCACCTGCAAGGAGACCTTCA	0.617000														27			14		0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997973	30997973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:30997973C>T	uc002eaf.2	+	4	585	c.479C>T	c.(478-480)cCt>cTt	p.P160L	HSD3B7_uc010cac.2_Missense_Mutation_p.P160L|HSD3B7_uc002eag.2_Missense_Mutation_p.P160L|HSD3B7_uc002eah.2_Missense_Mutation_p.P160L	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.	160					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						CACCCCTATCCTTGCAGCAAG	0.607000														39			24		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77693917	77693917	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:77693917G>A	uc011bgk.2	+	25	4652	c.4009G>A	c.(4009-4011)Gga>Aga	p.G1337R	ROBO2_uc021xat.1_Missense_Mutation_p.G1349R|ROBO2_uc003dpy.4_Missense_Mutation_p.G1333R|ROBO2_uc003dpz.3_Missense_Mutation_p.G1398R|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1333					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCTCATCAGGAACAGCTTC	0.498000														28			15		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552766	41552766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:41552766G>A	uc003xok.3	-	26	3128	c.3044C>T	c.(3043-3045)tCc>tTc	p.S1015F	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S331F|ANK1_uc003xoi.3_Missense_Mutation_p.S1015F|ANK1_uc003xoj.3_Missense_Mutation_p.S1015F|ANK1_uc003xol.3_Missense_Mutation_p.S1015F|ANK1_uc003xom.3_Missense_Mutation_p.S1056F	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1015	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTCCACACGGAGCCGTTTTC	0.622000														79			40		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597253	18597254	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:18597253_18597254CC>TT	uc002dfg.3	+	6	817_818	c.617_618CC>TT	c.(616-618)gcc>gTT	p.A206V	ABCC6P1_uc010vam.2_Missense_Mutation_p.A149V					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		CGCAGTGCAGCCCGGGGGTAAG	0.554000														48			30		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65350614	65350614	+	Silent	SNP	C	T	T	rs149841839	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:65350614C>T	uc003dmn.3	-	18	3730	c.3204G>A	c.(3202-3204)tcG>tcA	p.S1068S	MAGI1_uc003dmm.3_Silent_p.S1096S|MAGI1_uc003dmo.3_Silent_p.S1097S|MAGI1_uc003dmp.3_Silent_p.S1001S	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1097					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGGTGGCATTCGAGGACTCTG	0.517000														54			35		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16368346	16368346	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:16368346T>C	uc003cay.3	-	7	1466	c.1184A>G	c.(1183-1185)aAc>aGc	p.N395S	RFTN1_uc010hes.3_Missense_Mutation_p.N359S|OXNAD1_uc003cax.3_Intron|OXNAD1_uc011awb.2_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	395						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CGCCAGCGAGTTCAGCAGGGG	0.547000														15			17		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856083	12856083	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:12856083A>C	uc001auj.2	+	3	1466	c.1363A>C	c.(1363-1365)Acc>Ccc	p.T455P		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	455										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATTGGCCCCACCCCCTGCCC	0.562000														133			19		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12937325	12937325	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:12937325G>A	uc004cvd.3	+	2	390	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.E56K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	56					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCGACTACAGGAAGTTCCCCA	0.403000														61			20		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180696	142180696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:142180696G>A	uc011krz.2	-	1	212	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Nonsense_Mutation_p.R55*|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGTCTTGTCGATACCAGGAC	0.507000														309			34		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208401	70208401	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:70208401T>C	uc001opo.3	+	20	2887	c.2672T>C	c.(2671-2673)gTt>gCt	p.V891A	PPFIA1_uc001opn.2_Missense_Mutation_p.V891A|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_5'UTR	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	891	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CAGCTCTGGGTTGGGATGCCA	0.562000														22			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248703	140248703	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140248703G>A	uc003lia.2	+	0	873	c.15G>A	c.(13-15)caG>caA	p.Q5Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.Q5Q	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	0					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)			TTGGTTTTCAGAGAAGGGGAT	0.488000														50			20		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614459	36614459	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:36614459G>A	uc021qge.1	-	0	1260	c.1260C>T	c.(1258-1260)tgC>tgT	p.C420C	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Silent_p.C420C|RAG2_uc021qgd.1_Silent_p.C420C|RAG2_uc001mwv.4_Silent_p.C420C|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	420					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CACAAGTAGGGCAGCATGTAA	0.443000									Familial Hemophagocytic Lymphohistiocytosis					43			28		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101840442	101840442	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:101840442G>A	uc003uys.4	+	14	1911	c.1784G>A	c.(1783-1785)gGg>gAg	p.G595E	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.G584E	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	584					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTGTCTCAAGGGTCCGTGAGC	0.502000														55			43		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405414	105405414	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:105405414G>A	uc010axc.1	-	6	16494	c.16374C>T	c.(16372-16374)ccC>ccT	p.P5458P	AHNAK2_uc021sen.1_Silent_p.P855P|AHNAK2_uc021seo.1_Silent_p.P456P|AHNAK2_uc001ypx.2_Silent_p.P5358P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5458						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAAATTGGGGGAGCTTCCA	0.537000														4			6		0	0	1	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231586	142231586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:142231586C>T	uc003vyh.2	-	1	429	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TCACTGCTGGCGCAGAAATAT	0.537000														54			36		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196879546	196879546	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:196879546G>A	uc001gtp.3	+	5	1072	c.935G>A	c.(934-936)gGa>gAa	p.G312E	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G311E|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	668	Sushi 5.				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						ACTCCTTCAGGAAGTTACTGG	0.408000														25			22		0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197346713	197346713	+	RNA	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:197346713T>A	uc011bug.2	-	4		c.563A>T			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		TATCAGGAGATCCAAGGCAAA	0.428000														20			7		0	0	1	0	0
SGTB	54557	broad.mit.edu	37	5	64976485	64976485	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:64976485G>A	uc003jud.3	-	6	836	c.616C>T	c.(616-618)Cct>Tct	p.P206S		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta (SGTB), mRNA.	206							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CAACTTACAGGACTGGATACC	0.318000														49			24		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94697658	94697658	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:94697658A>C	uc001tdc.3	+	28	4762	c.4513A>C	c.(4513-4515)Act>Cct	p.T1505P	PLXNC1_uc010sut.2_Missense_Mutation_p.T552P|PLXNC1_uc009zsv.3_Missense_Mutation_p.T244P	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1505					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGAATTTTTAACTCAGGAATC	0.333000														16			11		0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132056301	132056301	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:132056301G>A	uc011cxf.2	-	5	770	c.616_splice	c.e5+1	p.R206_splice	KIF3A_uc003kxn.3_Splice_Site_p.R165_splice|KIF3A_uc003kxo.3_Splice_Site_p.R206_splice|KIF3A_uc003kxp.3_Splice_Site_p.R206_splice	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	206	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	p.R206C(2)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATACTTACGATTTTTGTGG	0.363000														5			4		0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109294262	109294262	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:109294262G>A	uc001tnr.4	+	10	1666	c.995G>A	c.(994-996)aGa>aAa	p.R332K	DAO_uc001tnq.4_Missense_Mutation_p.R266K|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	332					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CTCTTTGGGAGAATCCTGGAA	0.562000														23			10		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615479	100615479	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:100615479G>A	uc001ygx.2	-	1	739	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	217					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CCAGGCCCAGGAAGGAGCTGG	0.637000														52			34		0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394885	29394885	+	Silent	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:29394885A>G	uc003nmg.3	-	0	625	c.534T>C	c.(532-534)ttT>ttC	p.F178F		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AGTCACAGTAAAACTGGTCAA	0.532000														37			11		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63489473	63489473	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:63489473G>A	uc002lkb.3	+	4	1208	c.782G>A	c.(781-783)cGc>cAc	p.R261H	CDH7_uc002ljz.3_Missense_Mutation_p.R261H|CDH7_uc002lka.3_Missense_Mutation_p.R261H	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	261	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R261H(3)|p.R261C(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATCCACCTCGCTTTCCTCGA	0.373000														14			16		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127687	117127687	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:117127687C>T	uc003pxj.1	-	2	1203	c.1181G>A	c.(1180-1182)aGg>aAg	p.R394K	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.R394K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	394					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACGAAGTTCCTTTCTATAGC	0.438000														1			9		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187444562	187444562	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:187444562G>A	uc003frp.3	-	6	2122	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Intron|BCL6_uc010hza.2_Silent_p.F453F|BCL6_uc003frq.2_Silent_p.F555F	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	555					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCTTGTAGCGGAAGGAGGCCT	0.602000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									45			20		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20946802	20946802	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:20946802C>T	uc010vbe.2	-	60	11865	c.11865G>A	c.(11863-11865)tgG>tgA	p.W3955*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.W1390*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3955					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.W3955L(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTTGTCAATCCATTCCTGGA	0.383000														11			9		0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41303909	41303909	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:41303909G>A	uc003oqh.2	+	1	224	c.137G>A	c.(136-138)gGc>gAc	p.G46D	NCR2_uc003oqj.2_Missense_Mutation_p.G46D|NCR2_uc003oqi.2_Missense_Mutation_p.G46D	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	46	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCGCCCACGGGCAGTCTCTAC	0.557000														32			19		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77375696	77375696	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:77375696C>T	uc002ffc.4	-	11	2034	c.1615_splice	c.e11-1	p.D539_splice	ADAMTS18_uc010chc.1_Splice_Site_p.D127_splice|ADAMTS18_uc002ffe.1_Splice_Site_p.D235_splice	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	539	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGCAAATATCCTGAAATAAA	0.383000														6			3		0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148754101	148754101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:148754101C>T	uc003lqo.3	-	2	424	c.374G>A	c.(373-375)gGc>gAc	p.G125D		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	125					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCACACAGCCCAGACACAG	0.662000														33			29		0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262795	39262795	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:39262795G>A	uc003awl.3	-	4	721	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	220					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TGTGTACGCAGGACGCTCTCG	0.706000														83			17		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46847144	46847144	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:46847144G>A	uc021tzm.1	-	13	2391	c.2356C>T	c.(2356-2358)Ctc>Ttc	p.L786F	TTLL6_uc002iob.3_Missense_Mutation_p.L479F|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.L539F|TTLL6_uc002iod.3_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	738						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AAGAAGGAGAGCTTCCCACTC	0.507000														25			25		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999513	112999513	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:112999513C>T	uc001ebx.3	+	5	1627	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*	CTTNBP2NL_uc001ebz.3_Non-coding_Transcript	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	467						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACAAATTTCAGTCCCAAGC	0.542000														62			47		0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148441110	148441110	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:148441110C>T	uc003iky.3	+	2	1058	c.528C>T	c.(526-528)ctC>ctT	p.L176L	EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Intron|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	176					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TCCTCAACCTCTGCGCTCTTA	0.458000														62			35		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512688	4512688	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:4512688G>A	uc002mar.1	-	2	1242	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	414	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TACCTGTTGCGATATTTTGGG	0.557000														8			26		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186131	101186131	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:101186131C>T	uc001dti.3	+	1	385	c.164C>T	c.(163-165)cCa>cTa	p.P55L	VCAM1_uc010ouj.2_Intron|VCAM1_uc001dtj.3_Missense_Mutation_p.P55L	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	55	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGTGAGTCCCCATTTTTCTCT	0.473000														25			16		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383387	152383387	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:152383387G>A	uc001ezx.2	-	2	245	c.171C>T	c.(169-171)gtC>gtT	p.V57V		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	57	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.E56K(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGACGCAGGACCTCATCCA	0.537000														39			17		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941559	38941559	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:38941559G>A	uc021wvy.1	-	12	2047	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	616					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAATGCTAGTGAAAACCTAGA	0.423000														8			8		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930300	46930300	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:46930300G>A	uc003bhw.1	-	0	2768	c.2768C>T	c.(2767-2769)cCc>cTc	p.P923L		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	923	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGCCCATTGGGACCTGAGTC	0.627000														37			11		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615110	10615110	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:10615110G>A	uc010rcc.1	-	16	2490	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.P694S|MRVI1_uc001miw.2_Missense_Mutation_p.P693S|MRVI1_uc001mix.3_Missense_Mutation_p.P387S|MRVI1_uc001miz.2_Missense_Mutation_p.P611S|MRVI1_uc010rcd.1_Missense_Mutation_p.P496S|MRVI1_uc009ygd.1_Missense_Mutation_p.P387S|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	675					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTAAACTTAGGAACCACAGCA	0.527000														28			12		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43314342	43314342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:43314342C>T	uc010dnk.3	+	5	835	c.613C>T	c.(613-615)Cct>Tct	p.P205S	SLC14A1_uc002lbi.4_Missense_Mutation_p.P17S|SLC14A1_uc010xcn.2_Missense_Mutation_p.P149S|SLC14A1_uc002lbf.4_Missense_Mutation_p.P149S|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.P44S|SLC14A1_uc002lbh.4_Missense_Mutation_p.P41S|SLC14A1_uc002lbj.4_Missense_Mutation_p.P205S|SLC14A1_uc002lbk.4_Missense_Mutation_p.P149S|SLC14A1_uc021ujg.1_Missense_Mutation_p.P149S	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	149						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCTGTTACTCCCTGTATGTGC	0.428000														33			16		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996027	43996027	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:43996027C>T	uc003bdy.2	-	22	3112	c.2798G>A	c.(2797-2799)gGt>gAt	p.G933D	EFCAB6_uc003bdz.2_Missense_Mutation_p.G781D|EFCAB6_uc010gzi.2_Missense_Mutation_p.G781D|EFCAB6_uc010gzj.1_Missense_Mutation_p.G159D	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAAAATGACCCATGAAGTT	0.483000														235			40		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004348	74004348	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:74004348G>A	uc010wss.1	-	21	5232	c.5004C>T	c.(5002-5004)ctC>ctT	p.L1668L	EVPL_uc002jqi.2_Silent_p.L1646L|EVPL_uc010wst.1_Silent_p.L1116L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1646	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTTCTCGCGGAGGATGGCCG	0.677000														21			10		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54780263	54780263	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:54780263C>T	uc002qfb.3	-	10	1797	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Intron|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.E510K|LILRB2_uc010yet.2_Missense_Mutation_p.E395K	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	511					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGTGGGCTCTGGCCCCACA	0.617000														36			14		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796596	21796596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:21796596C>T	uc001wag.3	+	17	2909	c.2909C>T	c.(2908-2910)tCt>tTt	p.S970F	RPGRIP1_uc001wah.3_Missense_Mutation_p.S612F|RPGRIP1_uc001wai.3_Missense_Mutation_p.S296F|RPGRIP1_uc001wak.3_Missense_Mutation_p.S445F|RPGRIP1_uc010aim.3_Missense_Mutation_p.S353F|RPGRIP1_uc001wal.3_Missense_Mutation_p.S329F|RPGRIP1_uc001wam.3_Missense_Mutation_p.S287F	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	970	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGATGGCATCTCCTGAGGTT	0.443000														32			11		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34082532	34082532	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:34082532C>T	uc001bxm.1	-	38	6167	c.5990G>A	c.(5989-5991)tGg>tAg	p.W1997*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1957*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W870*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1957	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGGTAGTTCCATCGCCGCAC	0.512000														30			23		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249337	20249337	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:20249337C>T	uc010tku.2	+	0	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTACTTAATCCCATTATTTA	0.368000														55			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086692	9086692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9086692G>A	uc002mkp.3	-	0	5327	c.5123C>T	c.(5122-5124)aCt>aTt	p.T1708I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1708	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						TCCTTCAGTAGTTGACTCAGA	0.488000														54			29		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26487354	26487354	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:26487354G>A	uc003gse.1	-	2	684	c.531C>T	c.(529-531)ccC>ccT	p.P177P		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGCTATAAATGGGGTACGGAG	0.473000														26			17		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587694	55587694	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:55587694C>T	uc010rin.2	+	0	589	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTACATCAACCAGTGGCTGCT	0.398000														56			30		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752474	247752474	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:247752474G>A	uc010pyy.2	+	0	813	c.813G>A	c.(811-813)agG>agA	p.R271R		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTAGATCCAGGGACCAGGGCA	0.473000														64			29		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32799128	32799128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:32799128G>A	uc001utx.3	+	37	5471	c.4975G>A	c.(4975-4977)Gac>Aac	p.D1659N	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGTACGAGAAGACTGGGCGCT	0.373000														62			20		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103194136	103194136	+	Silent	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:103194136A>T	uc022ajr.1	-	38	6100	c.5940T>A	c.(5938-5940)ctT>ctA	p.L1980L	RELN_uc022ajq.1_Silent_p.L1980L|RELN_uc010liz.3_Silent_p.L1980L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1980					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)		ATGGACAATAAAGACCGATGT	0.363000														12			5		0	0	1	0	0
SYN1	6853	broad.mit.edu	37	X	47464661	47464661	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:47464661G>A	uc004die.3	-	3	774	c.645C>T	c.(643-645)tcC>tcT	p.S215S	SYN1_uc004did.3_Silent_p.S215S	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	215	C; actin-binding and synaptic-vesicle binding.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CAGAATGCAAGGAGTTAACAC	0.537000														10			6		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119028186	119028186	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:119028186G>A	uc004bjn.3	+	7	3164	c.2783G>A	c.(2782-2784)gGa>gAa	p.G928E	PAPPA_uc011lxp.1_Missense_Mutation_p.G623E|PAPPA_uc011lxq.2_Missense_Mutation_p.G303E	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	928					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACTATTTCAGGAACTGAAGAG	0.388000														3			19		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580988	7580988	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:7580988C>G	uc003mxp.1	+	22	4844	c.4565C>G	c.(4564-4566)aCg>aGg	p.T1522R	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1522	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTAGTGCGACGGAGACAATA	0.473000														92			28		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140763701	140763701	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140763701G>A	uc003lka.2	+	0	1235	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.R412Q	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	414	Cadherin 4.				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)			AACTTGGACCGGGAAACACTC	0.413000														7			8		0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42462917	42462917	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:42462917G>A	uc002osf.3	-	1	324	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_006423	NP_006414	Q9UI14	PRAF1_HUMAN	Homo sapiens Rab acceptor 1 (prenylated) (RABAC1), mRNA.	80						Golgi apparatus|cell junction|integral to membrane|synaptic vesicle	identical protein binding			central_nervous_system(1)|kidney(1)|prostate(1)	3						CCAGGAACACGAACACATAGT	0.662000														16			8		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27688144	27688144	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:27688144G>A	uc001itu.2	-	3	1501	c.1383C>T	c.(1381-1383)atC>atT	p.I461I		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	461	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGAAATCATGATAAACATGT	0.358000														6			9		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79742503	79742503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:79742503G>A	uc001jzn.3	-	26	3635	c.3502C>T	c.(3502-3504)Cat>Tat	p.H1168Y		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1168					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTCACCATGAACAGCCACA	0.532000														14			20		0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63851225	63851225	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:63851225G>A	uc001xgd.1	-	11	1729	c.1139C>T	c.(1138-1140)tCt>tTt	p.S380F	PPP2R5E_uc010tsf.1_Missense_Mutation_p.S304F|PPP2R5E_uc010tsg.1_Missense_Mutation_p.S304F|PPP2R5E_uc010tsh.1_Missense_Mutation_p.S380F|PPP2R5E_uc001xge.2_Missense_Mutation_p.S380F|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	380					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GATGACGTTAGAGTTTTCTTC	0.363000														26			12		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85459152	85459152	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:85459152G>A	uc001tac.3	+	8	2615	c.2504G>A	c.(2503-2505)aGc>aAc	p.S835N	LRRIQ1_uc021rbo.1_Missense_Mutation_p.S713N	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	835										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTTTGCACAGCCTGAGTAAT	0.358000														43			16		0	0	1	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527418	32527418	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:32527418G>A	uc001utu.2	+	3		c.1176G>A			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		GGACAAGGTGGGGACAGACTT	0.582000														30			29		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383122	22383122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:22383122C>T	uc001yuc.1	+	6	1631	c.650C>T	c.(649-651)tCc>tTc	p.S217F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.S217F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCTGGCTTCCTATGCAGTC	0.502000														51			18		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32698994	32698994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:32698994G>A	uc001utx.3	+	6	1194	c.698G>A	c.(697-699)gGa>gAa	p.G233E	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.I232L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAAGTCATTGGAGTGTTGGCA	0.473000														78			32		0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38828713	38828713	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:38828713C>T	uc010ifg.2	-	1	2503	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	TLR6_uc003gtm.3_Silent_p.V794V	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	794					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAAGATTTCACATCATTGT	0.373000														8			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071190	9071190	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9071190G>A	uc002mkp.3	-	2	16460	c.16256C>T	c.(16255-16257)tCc>tTc	p.S5419F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5421	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						GGTGTTTGTGGAATGATGCAT	0.502000														205			116		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010776	73010776	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:73010776G>A	uc003tyn.1	-	11	1904	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.S619F|MLXIPL_uc003tym.1_Missense_Mutation_p.S619F|MLXIPL_uc003tyl.1_Missense_Mutation_p.S619F|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.S525F	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	619					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCCTGGCATGGAGCTGAGGTC	0.657000														34			16		0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593836	135593836	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:135593836G>A	uc004ezw.3	+	9	2354	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	HTATSF1_uc004ezx.3_Silent_p.E644E	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	644	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGTCTGATGAGAAAGAGGATG	0.403000														42			22		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160099326	160099326	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:160099326G>A	uc021xgr.1	-	1	270	c.224C>T	c.(223-225)aCc>aTc	p.T75I	IFT80_uc003fda.3_Intron|IFT80_uc003fdb.2_5'UTR|IFT80_uc021xgq.1_Missense_Mutation_p.T73I|IFT80_uc003fde.2_5'UTR|IFT80_uc003fdd.2_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	75						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCTGCCTGGGTTTGTTTCTT	0.323000														19			17		0	0	1	0	0
PDX1	3651	broad.mit.edu	37	13	28498678	28498678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:28498678C>T	uc001urt.2	+	1	800	c.692C>T	c.(691-693)tCc>tTc	p.S231F		NM_000209	NP_000200	P52945	PDX1_HUMAN	Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.	231					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCGTGACCTCCGGCGAGGAG	0.756000														4			7		0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88554546	88554546	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:88554546C>T	uc001tau.3	+	5	935	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	239						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ACTAGTAAAACTCATTGTCTT	0.378000														34			19		0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44984496	44984496	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:44984496G>A	uc010zxp.2	-	5	533	c.440C>T	c.(439-441)tCc>tTc	p.S147F	SLC35C2_uc002xro.3_Missense_Mutation_p.S118F|SLC35C2_uc002xrp.3_Missense_Mutation_p.S118F|SLC35C2_uc002xrq.3_Missense_Mutation_p.S118F|SLC35C2_uc002xrr.3_Missense_Mutation_p.S118F|SLC35C2_uc010zxn.2_Missense_Mutation_p.S4F|SLC35C2_uc010zxo.2_Missense_Mutation_p.S4F	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	118					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GACAGCTGAGGATTTGGTCAT	0.532000														39			31		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522075	7522075	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:7522075C>T	uc010sge.2	-	14	3973	c.3947G>A	c.(3946-3948)gGa>gAa	p.G1316E	CD163L1_uc001qsy.3_Missense_Mutation_p.G1306E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1306	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGATGGTTCCAGTTCCCTG	0.582000														59			32		0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78426738	78426738	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:78426738C>T	uc004edg.1	+	0	270	c.234C>T	c.(232-234)taC>taT	p.Y78Y		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	78						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GGATCTTCTACTACTTGAATC	0.398000										HNSCC(63;0.18)				13			10		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133281	91133281	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:91133281C>T	uc004efk.2	+	1	2887	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F	PCDH11X_uc004efl.2_Missense_Mutation_p.S681F|PCDH11X_uc010nmv.2_Missense_Mutation_p.S681F|PCDH11X_uc004efm.2_Missense_Mutation_p.S681F|PCDH11X_uc004efn.2_Missense_Mutation_p.S681F|PCDH11X_uc004efo.2_Missense_Mutation_p.S681F|PCDH11X_uc004efh.2_Missense_Mutation_p.S681F|PCDH11X_uc004efj.1_Missense_Mutation_p.S681F	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	681	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCAACTGTTCTTATGAATTG	0.433000														59			42		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097465	75097465	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:75097465C>T	uc001dgg.3	-	6	970	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	C1orf173_uc001dgi.4_Missense_Mutation_p.E45K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	251								p.S250Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCATGTTTCAGATCTATTT	0.368000														19			15		0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521509	99521509	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:99521509G>A	uc004awn.1	-	5	1792	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	ZNF510_uc004awo.1_Nonsense_Mutation_p.Q535*	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGAGTTCTCTGATGTATTCTG	0.413000														18			44		0	0	1	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420398	69420398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:69420398C>T	uc004afn.3	+	12	1400	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	430										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TCAGCAATTTCCCAAGAAGCT	0.343000														110			11		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650404	146650404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:146650404G>A	uc001epg.1	+	0	975	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		GTTTATCCAGGAAAACATTTT	0.368000														23			14		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340811	121340811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:121340811G>A	uc003eeg.2	+	2	745	c.535G>A	c.(535-537)Ggt>Agt	p.G179S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	179					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGTGGATATCGGTTTGGTACC	0.498000														13			10		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3842066	3842066	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:3842066T>C	uc002cvv.3	-	4	1450	c.1246A>G	c.(1246-1248)Atc>Gtc	p.I416V	CREBBP_uc002cvw.3_Intron	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	416					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAATGAGAGATGATTTGTCGT	0.408000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							26			13		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846563	230846563	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:230846563G>A	uc001hty.4	-	1	542	c.34C>T	c.(34-36)Cct>Tct	p.P12S	AGT_uc009xff.3_Missense_Mutation_p.P12S	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	12					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACACCGGCAGGAGCCATCTCA	0.562000														19			14		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459658	142459658	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:142459658C>T	uc003wak.2	+	2	251	c.234C>T	c.(232-234)atC>atT	p.I78I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.I18I	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	78	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGCACAACATCGAAGTCCTGG	0.547000														106			41		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368704	22368704	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:22368704C>T	uc010tzu.2	+	0	227	c.129C>T	c.(127-129)atC>atT	p.I43I	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAGGAAATATCCTTATCATTT	0.408000														181			66		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655875	12655875	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:12655875C>T	uc002gno.2	+	9	1569	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S	MYOCD_uc002gnn.2_Missense_Mutation_p.P424S|MYOCD_uc002gnp.1_Missense_Mutation_p.P328S|MYOCD_uc002gnq.2_Missense_Mutation_p.P143S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	424					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGTCACTTTTCCTGTCACACC	0.572000														7			26		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935656	166935656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:166935656G>A	uc003irh.2	+	7	1633	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	TLL1_uc021xud.1_Missense_Mutation_p.R329Q|TLL1_uc011cjn.2_Missense_Mutation_p.R329Q|TLL1_uc011cjo.2_Missense_Mutation_p.R153Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	329	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R329Q(2)		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)		ATTGGTCAGCGAACCCGTCTA	0.458000														77			26		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139838948	139838948	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:139838948C>T	uc003yvd.3	-	5	1369	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	308	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.K307K(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACCAGTCTTCCTTCCGAGAG	0.507000										HNSCC(7;0.00092)				27			19		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21973258	21973258	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:21973258G>A	uc003xas.3	-	18	4190	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	HR_uc003xat.3_Silent_p.F1120F	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	1175							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCACTGCTTGGAACACAGCCC	0.547000														16			10		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316063	125316063	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:125316063C>T	uc011lyx.2	+	0	615	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGAAGCTTGCCTGCTCAGATA	0.522000														21			21		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067958	190067958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:190067958C>T	uc001gse.1	-	7	1723	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	FAM5C_uc010pot.1_Missense_Mutation_p.M395I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	497						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAGATATTTCATCTCGAGAT	0.498000														64			49		0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39147369	39147369	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:39147369C>T	uc011anz.2	-	3	288	c.237G>A	c.(235-237)aaG>aaA	p.K79K	SUN2_uc011aoa.2_Silent_p.K79K|SUN2_uc003awh.2_Silent_p.K44K|SUN2_uc010gxq.2_Silent_p.K44K|SUN2_uc003awi.2_Silent_p.K44K|SUN2_uc010gxr.2_Silent_p.K44K	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	44	LMNA-binding (By similarity).|Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGGATTTCCTCTTCAAGGTCC	0.612000														20			24		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81839417	81839417	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:81839417G>A	uc001szo.2	-	5	649	c.488C>T	c.(487-489)tCt>tTt	p.S163F	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.S89F|PPFIA2_uc021rbh.1_Missense_Mutation_p.S89F|PPFIA2_uc021rbi.1_Missense_Mutation_p.S163F|PPFIA2_uc021rbj.1_Missense_Mutation_p.S163F|PPFIA2_uc021rbk.1_Missense_Mutation_p.S145F|PPFIA2_uc021rbl.1_Missense_Mutation_p.S163F|PPFIA2_uc010sue.2_Missense_Mutation_p.S63F	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	89										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTGAGGGAGACTGGGCTTG	0.433000														13			9		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991843	72991843	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:72991843G>A	uc002fck.3	-	1	2875	c.2202C>T	c.(2200-2202)tcC>tcT	p.S734S	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	734					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGTAGTTGTGGAGTAGTTAC	0.557000														55			26		0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125476270	125476270	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:125476270C>T	uc001qcd.2	+	7	800	c.690C>T	c.(688-690)ggC>ggT	p.G230G	STT3A_uc009zbm.2_Silent_p.G230G|STT3A_uc001qce.2_Silent_p.G230G|STT3A_uc010sbg.1_Silent_p.G138G|STT3A_uc009zbn.2_Silent_p.G4G	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	230					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGCTCACAGGCCGTTTCTCTC	0.473000														46			38		0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72743439	72743439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:72743439G>A	uc003tya.2	+	2	384	c.252G>A	c.(250-252)atG>atA	p.M84I	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.M79I|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	84	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTCGGCTAATGAAACTTGGAG	0.468000														39			27		0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64717750	64717750	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:64717750C>T	uc002anm.3	+	10	1555	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	499					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGTGGAATTTCCTAATGACTA	0.363000														33			11		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740594	141740594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:141740594C>T	uc003vwy.3	+	20	2500	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	816	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTCACCTTCGAGGAGGCTA	0.468000														23			13		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43351890	43351890	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:43351890G>A	uc002iiw.1	-	7	1467	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.P38L	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	454	Interaction with ZFP91.|Protein kinase.				I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCCATACAAAGGGACAATTCT	0.547000														22			12		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52505446	52505446	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:52505446G>A	uc010bff.3	-	33	4242	c.4080C>T	c.(4078-4080)taC>taT	p.Y1360Y	MYO5C_uc010uga.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1360						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCATTCCAAGGTACTCCTTGG	0.448000														27			10		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44890669	44890669	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:44890669G>A	uc010xxa.2	-	3	1802	c.1759C>T	c.(1759-1761)Cat>Tat	p.H587Y	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.H580Y	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	879					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						AGTCTTTGATGAGTCAGAAGG	0.413000														41			16		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576771	28576771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:28576771G>A	uc002kwj.4	-	14	2634	c.2479C>T	c.(2479-2481)Ccc>Tcc	p.P827S	DSC3_uc002kwi.4_Missense_Mutation_p.P827S	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	827					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCGAGACGGGGTTGAGTAAAA	0.453000														24			12		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118535150	118535150	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:118535150T>G	uc001ehk.2	-	35	5368	c.5300A>C	c.(5299-5301)cAa>cCa	p.Q1767P	SPAG17_uc021osr.1_Missense_Mutation_p.Q277P	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1767						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGAATGAATTGGCGCATCTG	0.473000														37			30		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43896020	43896020	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:43896020C>T	uc002zbg.3	-	7	970	c.865G>A	c.(865-867)Gac>Aac	p.D289N		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	289					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCATCCATGTCATAGCGGAAC	0.622000														13			10		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431321	135431321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:135431321C>T	uc004ezu.1	+	5	5747	c.5456C>T	c.(5455-5457)tCa>tTa	p.S1819L	GPR112_uc010nsb.1_Missense_Mutation_p.S1614L|GPR112_uc010nsc.1_Missense_Mutation_p.S1586L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1819					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCCCTGTTTCATACCCTCCA	0.403000														48			34		0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29796368	29796368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:29796368G>A	uc003nnw.2	+	3	570	c.392G>A	c.(391-393)gGa>gAa	p.G131E	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.G103E|HLA-G_uc003raj.3_Missense_Mutation_p.G136E|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	131	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GGGTCCGACGGACGCCTCCTC	0.682000														127			35		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113723520	113723520	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:113723520G>A	uc003eax.3	-	10	2089	c.1942C>T	c.(1942-1944)Cca>Tca	p.P648S	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.P626S	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	648										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AATTGCTTTGGTTTCCTTCTG	0.463000														75			44		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237880599	237880599	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:237880599C>T	uc001hyl.1	+	71	10545	c.10425C>T	c.(10423-10425)ccC>ccT	p.P3475P	RYR2_uc010pxz.1_Silent_p.P430P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3475					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTTACTGCCCATTGGGTTGA	0.493000														16			4		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925746	27925746	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:27925746C>T	uc011dkx.2	+	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACATGTGGTTCCCATCTAATT	0.458000														104			32		0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44042238	44042238	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:44042238G>A	uc003tjf.3	+	1	445	c.309G>A	c.(307-309)agG>agA	p.R103R	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	103										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GCTGGAAAAGGAAGATGGAGT	0.577000														13			8		0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25887865	25887865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:25887865C>T	uc001uqi.3	+	4	796	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	NUPL1_uc001uqg.1_Nonsense_Mutation_p.Q184*|NUPL1_uc001uqj.3_Nonsense_Mutation_p.Q172*	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	184	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTCACTTTTCCAGAGTACAAA	0.358000														48			26		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33504104	33504104	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:33504104G>A	uc002hja.3	+	15	2197	c.2100G>A	c.(2098-2100)aaG>aaA	p.K700K	UNC45B_uc002hjb.3_Silent_p.K698K|UNC45B_uc002hjc.3_Silent_p.K698K|UNC45B_uc010cto.3_Silent_p.K619K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	700					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTCTAGCAAAGATCGCTGCTG	0.567000														44			47		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5243950	5243950	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:5243950G>A	uc002mbv.3	-	10	1766	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	PTPRS_uc002mbu.1_Missense_Mutation_p.P498L|PTPRS_uc010xin.2_Missense_Mutation_p.P498L|PTPRS_uc002mbw.3_Missense_Mutation_p.P498L|PTPRS_uc002mbx.3_Missense_Mutation_p.P502L|PTPRS_uc002mby.3_Missense_Mutation_p.P498L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	511	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P511L(2)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCCGAGAGGGGCCCGTCGCC	0.692000														9			5		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67084326	67084326	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:67084326C>T	uc002jhw.1	-	27	3855	c.3680G>A	c.(3679-3681)cGa>cAa	p.R1227Q		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1227					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGATCTTTTCGCATTCTTTT	0.318000														7			3		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121348903	121348903	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:121348903G>A	uc001pxx.3	+	2	608	c.479G>A	c.(478-480)aGt>aAt	p.S160N		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	160					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGAAATAGGAGTGAAGCTGTT	0.473000														12			9		0	0	1	0	0
C20orf11	54994	broad.mit.edu	37	20	61574527	61574527	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:61574527C>T	uc002ydy.3	+	2	484	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	Homo sapiens chromosome 20 open reading frame 11 (C20orf11), mRNA.	103	CTLH.					nucleus	protein binding			endometrium(1)|kidney(1)|lung(3)|skin(1)|urinary_tract(1)	7	Breast(26;5.68e-08)					TCTTTACTTCCATTTGCAGGT	0.418000														19			8		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39218804	39218804	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:39218804G>A	uc003awk.3	-	4	1467	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	438	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					ACCGACAAAGGCCTGGGTGGC	0.607000														30			7		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702271	187702271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:187702271C>T	uc002upu.1	-	4	545	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	169					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATACTATTGCCACAGCCAAAC	0.289000														4			11		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154207139	154207139	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:154207139G>A	uc001fep.4	+	4	519	c.352G>A	c.(352-354)Gag>Aag	p.E118K	UBAP2L_uc009wot.3_Missense_Mutation_p.E118K|UBAP2L_uc010pek.2_Missense_Mutation_p.E117K|UBAP2L_uc010pel.2_Missense_Mutation_p.E117K|UBAP2L_uc021pad.1_Missense_Mutation_p.E117K|UBAP2L_uc010pem.1_Missense_Mutation_p.E117K|UBAP2L_uc010pen.2_Missense_Mutation_p.E21K	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	118					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAATCCAATGAGGAAGGCAA	0.547000														11			7		0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19153318	19153318	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:19153318A>G	uc002kth.1	-	3	2421	c.1487T>C	c.(1486-1488)tTg>tCg	p.L496S	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	496					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTGATTATCCAATGGTGGGTC	0.318000														47			15		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144803839	144803839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:144803839C>T	uc003yzj.3	+	11	1366	c.1325C>T	c.(1324-1326)tCg>tTg	p.S442L		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	442					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTGACACTCTCGCTGGTAAGT	0.637000														48			21		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165602	172165602	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:172165602G>A	uc003fib.2	-	0	645	c.602C>T	c.(601-603)aCc>aTc	p.T201I	GHSR_uc011bpv.2_Missense_Mutation_p.T201I	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	201					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCAAACTCGGTGGGGCGGCA	0.627000														23			8		0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114471	53114471	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:53114471G>A	uc004drw.3	+	4	1345	c.1206G>A	c.(1204-1206)agG>agA	p.R402R	TSPYL2_uc004drv.3_3'UTR|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	402					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGGGCTCCAGGATAAAGAGAA	0.443000														19			8		0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28507991	28507991	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:28507991G>C	uc002heu.3	+	5	602	c.574G>C	c.(574-576)Gtt>Ctt	p.V192L	NSRP1_uc002hev.3_Missense_Mutation_p.V138L|NSRP1_uc010wbl.2_Missense_Mutation_p.V138L|NSRP1_uc010wbm.2_Missense_Mutation_p.V138L|NSRP1_uc002hex.3_Missense_Mutation_p.V138L	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	192					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AAATCAAGCAGTTGGTGAAGA	0.363000														34			34		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684294	75684294	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:75684294G>A	uc010oqz.1	-	15	1593	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	SLC44A5_uc001dgt.2_Silent_p.F470F|SLC44A5_uc001dgs.2_Silent_p.F428F|SLC44A5_uc001dgr.2_Silent_p.F428F|SLC44A5_uc001dgu.3_Silent_p.F470F|SLC44A5_uc010ora.2_Silent_p.F464F|SLC44A5_uc010orb.2_Silent_p.F340F	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	470						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATGCAATGACGAAGTTTATAA	0.418000														47			28		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62283975	62283975	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:62283975C>T	uc002agz.3	-	16	1471	c.1380G>A	c.(1378-1380)agG>agA	p.R460R	VPS13C_uc002aha.3_Silent_p.R417R|VPS13C_uc002ahb.2_Silent_p.R460R|VPS13C_uc002ahc.2_Silent_p.R417R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	460					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGACTTTTTCCTTAATTTTT	0.388000														48			33		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307703	10307703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:10307703C>T	uc002gmm.2	-	21	2727	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	878					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.E877Q(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACCATTTTTTCCTCTAGCTCC	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					12			16		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120471786	120471786	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:120471786G>A	uc001eik.3	-	22	4002	c.3705C>T	c.(3703-3705)tgC>tgT	p.C1235C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1235	EGF-like 32; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCATTAAGGCAATGGGGAC	0.507000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					15			10		0	0	1	0	0
MMP23B	8510	broad.mit.edu	37	1	1569976	1569976	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:1569976C>T	uc001agp.3	+	7	1186	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	MMP23B_uc001agq.3_3'UTR|MMP23B_uc001agr.3_Missense_Mutation_p.S164F|MMP23B_uc009vki.3_3'UTR	NM_006983	NP_008914	O75900	MMP23_HUMAN	Homo sapiens matrix metallopeptidase 23B (MMP23B), mRNA.	383					proteolysis|reproduction	endoplasmic reticulum membrane|integral to membrane|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCACCTACTCCTGGCGAGTC	0.662000														20			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236456	140236456	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140236456G>A	uc003lhx.2	+	0	823	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.E275K|PCDHAC2_uc011dad.2_Missense_Mutation_p.E275K	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	291	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAACAAGGAAATGATGTA	0.363000														38			14		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86393018	86393018	+	Silent	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:86393018A>G	uc003ydk.2	+	6	963	c.783A>G	c.(781-783)taA>taG	p.*261*	CA2_uc022axe.1_Non-coding_Transcript	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	0					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCTTCAAATAAGATGGTCCCA	0.463000														23			10		0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100029116	100029116	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:100029116C>T	uc003uuw.3	+	0	1863	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Missense_Mutation_p.S23F|MEPCE_uc022aio.1_Missense_Mutation_p.S23F|MEPCE_uc003uuv.3_Missense_Mutation_p.S23F	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	492	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACTACCTTTCCGAGGAGCTG	0.627000														22			17		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101609019	101609019	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:101609019G>A	uc003yjr.3	-	9	977	c.826C>T	c.(826-828)Cct>Tct	p.P276S	SNX31_uc011lha.2_Missense_Mutation_p.P71S|SNX31_uc011lhb.2_Missense_Mutation_p.P177S	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	276					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CAGGTACAAGGATCCAGCTGC	0.552000														62			31		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164777775	164777775	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:164777775C>T	uc003fei.3	-	9	1124	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	354	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGTTGGAATCCAAGATTCCA	0.343000										HNSCC(35;0.089)				58			42		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97544576	97544576	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:97544576C>T	uc001drv.3	-	22	3171	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	1012					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTCTTTGGTTCATAAGGTGTT	0.453000														85			37		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578713	9578713	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9578713G>A	uc002mlp.1	-	9	1120	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	ZNF560_uc010dwr.1_Nonsense_Mutation_p.Q198*	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGGTATGACTGATAAATGAAG	0.413000														35			19		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18323267	18323267	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:18323267G>A	uc004cyl.2	-	6	712	c.555C>T	c.(553-555)aaC>aaT	p.N185N	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.N185N|SCML2_uc011miz.1_Silent_p.N119N	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	185					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGAGATACGGGTTCTTTTTGT	0.383000														77			58		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36162769	36162769	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:36162769G>A	uc004ddk.1	+	10	1538	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	451						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						gttaccatccgattggctgtg	0.443000														18			6		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55568842	55568842	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:55568842C>T	uc021pqw.1	-	35	5372	c.4977G>A	c.(4975-4977)agG>agA	p.R1659R	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.R1654R|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAATGTTTTTCCTTGCTTTTT	0.468000										HNSCC(58;0.16)				4			10		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676263	54676263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:54676263C>T	uc003dhf.3	+	10	1210	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.R294*|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Nonsense_Mutation_p.R122*|ESRG_uc003dhj.3_5'Flank	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	388	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGGCCAGATCGAAAGGTAAG	0.468000														5			8		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92487982	92487982	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:92487982G>A	uc001xzy.3	-	3	880	c.506C>T	c.(505-507)tCa>tTa	p.S169L		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	169					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTTGGGATGAAATTATATC	0.393000			T	PDGFRB	AML									22			11		0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48962944	48962944	+	Silent	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:48962944G>T	uc001rrt.3	-	1	239	c.213C>A	c.(211-213)ctC>ctA	p.L71L		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	71					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TGATCTGGAAGAGTCCATATT	0.453000														32			22		1.50039e-11	1.51974e-11	1	1	0
MGAT3	4248	broad.mit.edu	37	22	39884006	39884006	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:39884006C>T	uc003axv.4	+	1	893	c.654C>T	c.(652-654)ttC>ttT	p.F218F	MGAT3_uc010gxy.3_Silent_p.F218F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	218					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.F218F(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACCACGAGTTCGACCTGCTGG	0.652000														35			9		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	95992139	95992139	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:95992139G>A	uc004ati.1	+	1	843	c.843G>A	c.(841-843)ggG>ggA	p.G281G	WNK2_uc011lud.1_Silent_p.G281G|WNK2_uc004atj.3_Silent_p.G281G|WNK2_uc010mrc.1_Silent_p.G281G|WNK2_uc010mrd.1_5'Flank	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	281	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGACCTCAGGGACGCTGAAGA	0.637000														0			10		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600664	29600664	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:29600664C>T	uc001usl.4	+	0	1917	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	610						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GACACACCTTCCTCGCAGGAG	0.522000														15			18		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800849	185800849	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:185800849G>A	uc002uph.3	+	3	1320	c.726G>A	c.(724-726)gtG>gtA	p.V242V		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	242						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGCCTCAGTGGGAAAAGGAT	0.428000														21			28		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66082536	66082536	+	Silent	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:66082536A>G	uc001ohm.1	-	0	1980	c.1963T>C	c.(1963-1965)Ttg>Ctg	p.L655L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	655	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CACAGGGCCAACTTGGGACTG	0.642000														22			18		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51947229	51947229	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:51947229G>A	uc003pah.1	-	3	518	c.242C>T	c.(241-243)cCt>cTt	p.P81L	PKHD1_uc003pai.3_Missense_Mutation_p.P81L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	81	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAGAAAACAGGAAAGACGTC	0.498000														131			65		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781235	96781235	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:96781235G>A	uc021vlh.1	-	0	654	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	218					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGGGCTGCTTGGACTCACCCT	0.632000														7			4		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52667266	52667266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:52667266G>A	uc001vge.3	-	12	1272	c.1132C>T	c.(1132-1134)Cac>Tac	p.H378Y		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	378							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GGAATAGGGTGATAACTTGGT	0.418000														66			26		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209907730	209907730	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:209907730G>A	uc001hhj.3	+	6	875	c.743G>A	c.(742-744)gGg>gAg	p.G248E	HSD11B1_uc021pin.1_Missense_Mutation_p.G248E|HSD11B1_uc001hhk.3_Missense_Mutation_p.G248E	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	248					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	ATCATCAAAGGGGGAGCTCTG	0.468000														17			21		0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151214995	151214996	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:151214995_151214996CC>TT	uc001exj.3	+	13	2044_2045	c.1592_1593CC>TT	c.(1591-1593)ccc>cTT	p.P531L	PIP5K1A_uc021oyo.1_Missense_Mutation_p.P519L|PIP5K1A_uc001exi.3_Missense_Mutation_p.P518L|PIP5K1A_uc010pcu.2_Missense_Mutation_p.P491L|PIP5K1A_uc001exk.3_Missense_Mutation_p.P469L|PIP5K1A_uc010pcv.2_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	531					phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATTCCTGACCCCAGTTTCTCAC	0.446000														37			20		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63466543	63466543	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:63466543C>T	uc003dlp.3	+	2	416	c.120C>T	c.(118-120)ggC>ggT	p.G40G	SYNPR_uc011bfk.2_Intron|SYNPR_uc011bfl.2_Non-coding_Transcript|SYNPR_uc003dlq.3_Silent_p.G20G|SYNPR_uc010hnt.3_Silent_p.G29G|SYNPR_uc011bfm.2_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	20	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CATGCGGTGGCTATTCTGGAG	0.443000														56			33		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951344	10951344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:10951344G>A	uc002yip.1	-	9	736	c.368C>T	c.(367-369)cCt>cTt	p.P123L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P105L|TPTE_uc002yir.1_Missense_Mutation_p.P85L|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)		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)		ATACTCCAAAGGAATATAAAG	0.323000														22			8		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42455830	42455830	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:42455830G>A	uc001zpd.3	-	20	2307	c.2156C>T	c.(2155-2157)gCt>gTt	p.A719V	VPS39_uc001zpc.3_Missense_Mutation_p.A708V|VPS39_uc001zpb.3_Missense_Mutation_p.A54V	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	719					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTACTCCTCAGCCATCCTTGT	0.493000														6			3		0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	G	G	rs121913530		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:25398285C>G	uc001rgp.1	-	1	215	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8564)|p.G12C(5976)|p.G12V(5758)|p.G12S(2576)|p.G12R(1579)|p.G12A(1401)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G10_A11insG(5)|p.A11_G12insGA(4)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.G12E(3)|p.A11P(2)|p.G12fs*3(1)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				6			5		0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73446018	73446018	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:73446018C>T	uc002siw.2	+	1	155	c.126C>T	c.(124-126)atC>atT	p.I42I	SMYD5_uc010yre.1_5'UTR	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	42							metal ion binding	p.I42F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CACAGCTCATCCGGAAGGGGG	0.547000														8			15		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430098	135430098	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:135430098G>A	uc004ezu.1	+	5	4524	c.4233G>A	c.(4231-4233)caG>caA	p.Q1411Q	GPR112_uc010nsb.1_Silent_p.Q1206Q|GPR112_uc010nsc.1_Silent_p.Q1178Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1411					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1410S(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)					CATATGGCCAGGATACTTCAT	0.423000														54			44		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515109	233515109	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:233515109A>T	uc001hvt.4	+	8	2618	c.2357A>T	c.(2356-2358)gAg>gTg	p.E786V	KIAA1804_uc001hvu.4_Missense_Mutation_p.E232V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	786					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ACCTGTGGGGAGGCCAGCAGC	0.592000														26			22		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99696780	99696780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:99696780G>A	uc003usw.1	-	4	958	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.4_5'Flank|AP4M1_uc003utd.3_5'Flank|AP4M1_uc011kjh.2_5'Flank|AP4M1_uc003ute.4_5'Flank|AP4M1_uc003utf.4_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	150					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CGCACTTCCCGGATCACACGA	0.512000														30			16		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43772148	43772148	+	Missense_Mutation	SNP	G	A	A	rs139507205	by1000genomes	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:43772148G>A	uc002owd.4	-	1	317	c.218C>T	c.(217-219)aCg>aTg	p.T73M	PSG9_uc002owe.4_Missense_Mutation_p.T73M|PSG9_uc010xwm.2_Missense_Mutation_p.T73M|PSG9_uc002owf.4_Missense_Mutation_p.T73M|PSG9_uc002owg.2_Missense_Mutation_p.T73M	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	73	Ig-like V-type.				female pregnancy	extracellular region		p.T73T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTAGAGGTCCGTCATTTCCCC	0.428000														140			4		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122042	12122042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:12122042G>A	uc003nac.3	+	3	2193	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	672					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGAAGTACGGATTCTGGTTA	0.507000														20			9		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322751	55322751	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:55322751G>A	uc010rig.2	+	0	969	c.969G>A	c.(967-969)atG>atA	p.M323I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M323I(2)|p.M323T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGACAAAATGGCGGCAATAT	0.383000										HNSCC(20;0.049)				58			29		0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235617519	235617519	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:235617519C>T	uc001hxc.2	-	9	1489	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	420					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TGACGATGTCCTTGGAGATCA	0.517000														28			18		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860808	16860808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:16860808C>T	uc002neu.4	+	5	1777	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	NWD1_uc002net.4_Missense_Mutation_p.P317L|NWD1_uc002nev.4_Missense_Mutation_p.P246L|NWD1_uc021uqg.1_Missense_Mutation_p.P317L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	452	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGGAGGGTTCCCTGGCTGCCT	0.617000														48			21		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44486419	44486419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:44486419C>T	uc002zcu.2	-	4	630	c.385G>A	c.(385-387)Gat>Aat	p.D129N	CBS_uc002zcs.1_Missense_Mutation_p.D24N|CBS_uc002zct.2_Missense_Mutation_p.D129N|CBS_uc002zcw.3_Missense_Mutation_p.D129N|CBS_uc002zcv.2_Missense_Mutation_p.D129N	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	129					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGCTCAGCATCCTCAATCATC	0.647000														15			31		0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129831519	129831519	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:129831519G>A	uc004bqo.2	+	7	761	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	RALGPS1_uc022bno.1_Missense_Mutation_p.R165Q|RALGPS1_uc011mab.2_Missense_Mutation_p.R165Q|RALGPS1_uc011mac.2_Missense_Mutation_p.R165Q|RALGPS1_uc004bqq.4_Missense_Mutation_p.R165Q	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	165	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.R165*(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTTTTAAATCGAAAAGACAAG	0.368000														9			10		0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917532	32917532	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:32917532C>T	uc003ocm.2	-	2	594	c.508G>A	c.(508-510)Gga>Aga	p.G170R	HLA-DMA_uc011dqm.1_3'UTR	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	170						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						GGCCCAAATCCTTCCACAGGG	0.483000														30			13		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136198	114136198	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:114136198C>T	uc001kzu.3	+	0	243	c.131C>T	c.(130-132)cCc>cTc	p.P44L	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					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)		GATGCGGCCCCCTCGCAGGGT	0.602000														11			16		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745802	32745802	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:32745802C>T	uc001bux.3	+	11	1456	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	LCK_uc001buy.3_Missense_Mutation_p.P440S|LCK_uc001buz.3_Missense_Mutation_p.P470S|LCK_uc010ohc.1_Missense_Mutation_p.P484S|LCK_uc001bva.3_Missense_Mutation_p.P447S	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	440	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CGGCCGCATCCCTTACCCAGG	0.507000			T	TRB@	T-ALL									15			15		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45919679	45919679	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:45919679C>T	uc001nbr.3	+	1	470	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	MAPK8IP1_uc010rgp.1_Missense_Mutation_p.L33F	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	49					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGATGAAGACCTCTCGGAGAT	0.557000														14			7		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782690	55782690	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:55782690C>T	uc010qhy.1	-	19	2898	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	PCDH15_uc010qhq.2_Missense_Mutation_p.E835K|PCDH15_uc010qhr.2_Missense_Mutation_p.E830K|PCDH15_uc021pqv.1_Missense_Mutation_p.E830K|PCDH15_uc021pqw.1_Missense_Mutation_p.E842K|PCDH15_uc010qht.2_Missense_Mutation_p.E837K|PCDH15_uc021pqx.1_Missense_Mutation_p.E830K|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E830K|PCDH15_uc021pqz.1_Missense_Mutation_p.E808K|PCDH15_uc010qhv.1_Missense_Mutation_p.E830K|PCDH15_uc010qhw.1_Missense_Mutation_p.E793K|PCDH15_uc010qhx.1_Missense_Mutation_p.E759K|PCDH15_uc010qhz.1_Missense_Mutation_p.E830K|PCDH15_uc010qia.1_Missense_Mutation_p.E808K|PCDH15_uc001jju.1_Missense_Mutation_p.E830K|PCDH15_uc010qib.1_Missense_Mutation_p.E808K|PCDH15_uc001jjw.3_Missense_Mutation_p.E830K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	830	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A834A(1)|p.G835W(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCAAATTCTCTTCAACAAGG	0.408000										HNSCC(58;0.16)				12			26		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399671	40399671	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:40399671G>A	uc003oph.1	-	1	1647	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	394						cell junction|integral to membrane|postsynaptic membrane		p.K393fs*39(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGAGAGGCGGGACTTGGGGG	0.672000														57			20		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3111974	3111974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:3111974C>T	uc011ask.2	-	12	1842	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	IL5RA_uc010hbq.3_Missense_Mutation_p.E305K|IL5RA_uc010hbr.3_Missense_Mutation_p.E191K|IL5RA_uc010hbs.3_Missense_Mutation_p.E400K|IL5RA_uc011asl.2_Silent_p.R371R|IL5RA_uc010hbp.3_Missense_Mutation_p.E130K	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	400					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.T399T(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ACTTCAATTTCCGTCTCACTG	0.398000														58			45		0	0	1	0	0
DQ656008	0	broad.mit.edu	37	11	5142675	5142675	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:5142675C>T	uc001maa.3	-	3		c.724G>A								Homo sapiens clone Affy08256A04, mRNA sequence.																		TAGAGAATTTCCAATCAGAGC	0.433000														41			25		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47511163	47511163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:47511163C>T	uc002leb.2	-	7	1159	c.871G>A	c.(871-873)Gga>Aga	p.G291R	MYO5B_uc021ukb.1_Missense_Mutation_p.G290R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	291	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTGTCTCCTCCCTGTGATGTA	0.522000														22			20		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47880400	47880400	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:47880400C>T	uc010xyn.2	+	12	2992	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	DHX34_uc010xyo.1_Silent_p.F10F	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	881						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCCTCAGCTTCGTGTCCCTGC	0.632000														18			12		0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89588562	89588562	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:89588562C>T	uc003hrw.1	+	12	1532	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	HERC3_uc011cdn.1_Missense_Mutation_p.P338S|HERC3_uc011cdo.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	456					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	p.P456T(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCCCAAAATCCCTGGGATTGA	0.313000														10			7		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42174878	42174878	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:42174878C>T	uc001zos.3	-	9	2179	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	651					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGGCTTCCTCCTCCTCACAG	0.662000														3			9		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934627	44934628	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:44934627_44934628TC>GT	uc002oze.1	-	5	762_763	c.328_329GA>AC	c.(328-330)gaa>ACa	p.E110T	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.E104T	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGCCACCTCTTCCCAGATTTTG	0.441000														23			17		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588695	247588695	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:247588695C>T	uc001icr.3	+	4	2088	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	NLRP3_uc001ics.3_Silent_p.F650F|NLRP3_uc001icu.3_Silent_p.F650F|NLRP3_uc001icw.3_Silent_p.F650F|NLRP3_uc001icv.3_Silent_p.F650F|NLRP3_uc010pyw.2_Silent_p.F648F|NLRP3_uc001ict.1_Silent_p.F648F	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	650					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGACTATTTCCCCAAGATTG	0.493000														15			13		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221817	5221817	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:5221817G>A	uc010qyz.2	-	0	114	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGAAGGGGATGGAAAGCC	0.483000														54			33		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400391	43400391	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:43400391T>A	uc003ouy.1	+	2	888	c.673T>A	c.(673-675)Tcc>Acc	p.S225T	ABCC10_uc003ouz.1_Missense_Mutation_p.S182T	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	225						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	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)			GTCACGCTTTTCCTATGCCTG	0.642000														97			37		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090714	91090714	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:91090714G>A	uc004efk.2	+	0	1056	c.211G>A	c.(211-213)Gat>Aat	p.D71N	PCDH11X_uc004efl.2_Missense_Mutation_p.D71N|PCDH11X_uc010nmv.2_Missense_Mutation_p.D71N|PCDH11X_uc004efm.2_Missense_Mutation_p.D71N|PCDH11X_uc004efn.2_Missense_Mutation_p.D71N|PCDH11X_uc004efo.2_Missense_Mutation_p.D71N|PCDH11X_uc004efh.2_Missense_Mutation_p.D71N|PCDH11X_uc004efj.1_Missense_Mutation_p.D71N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	71	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAGACCGGAGATGTGCCACT	0.463000														55			24		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008416	121008416	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:121008416C>T	uc010rzo.2	+	9	3228	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1076					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGACCATTCCCTGCAAGGATG	0.572000														27			9		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954320	30954320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:30954320C>T	uc003nsh.2	+	1	619	c.368C>T	c.(367-369)tCt>tTt	p.S123F	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S107F	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	123	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.602000														172			75		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690418	99690418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:99690418C>T	uc001pga.3	+	3	703	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	CNTN5_uc009ywv.2_Missense_Mutation_p.P67S|CNTN5_uc001pfz.3_Missense_Mutation_p.P67S|CNTN5_uc021qpb.1_Missense_Mutation_p.P67S|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	67					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGCTTCTTCACCCAGCTGGCT	0.423000														28			7		0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57484473	57484473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:57484473C>T	uc002aec.3	+	6	792	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	TCF12_uc010ugm.1_Missense_Mutation_p.H222Y|TCF12_uc010ugn.1_Missense_Mutation_p.H166Y|TCF12_uc002aea.3_Missense_Mutation_p.H170Y|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.H170Y|TCF12_uc002aed.3_Missense_Mutation_p.H170Y	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	170					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GAGACCACTCCATGACTCTGC	0.473000			T	TEC	extraskeletal myxoid chondrosarcoma									33			17		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1389811	1389812	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:1389811_1389812GG>AA	uc001aft.2	+	3	1304_1305	c.309_310GG>AA	c.(307-312)ctgggg>ctAAgg	p.G104R		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	104							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGCTCGGCTGGGGAAGCCGTC	0.673000														4			6		0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15663086	15663086	+	Silent	SNP	A	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:15663086A>C	uc004cxc.2	-	3	526	c.270T>G	c.(268-270)ccT>ccG	p.P90P		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	Homo sapiens transmembrane protein 27 (TMEM27), mRNA.	90					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					GATTTTTTGAAGGGTCTGTAA	0.398000														23			19		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90347724	90347724	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:90347724G>A	uc002bop.4	-	4	1314	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	341	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCACTCACCTGATTTTGGGAG	0.597000														56			28		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414309	105414309	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:105414309G>A	uc010axc.1	-	6	7599	c.7479C>T	c.(7477-7479)ttC>ttT	p.F2493F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.F2393F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2493						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGACACCCCGAATGACGGCA	0.607000														183			113		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74270882	74270882	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:74270882C>T	uc003hgs.4	+	1	202	c.129C>T	c.(127-129)ttC>ttT	p.F43F	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Silent_p.F43F|ALB_uc011cbf.2_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	43	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.F43V(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAAAATTTCAAAGCCTTGT	0.308000														15			13		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50782595	50782595	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:50782595C>T	uc001zym.4	+	14	2607	c.2107C>T	c.(2107-2109)Cct>Tct	p.P703S	USP8_uc001zyl.4_Missense_Mutation_p.P703S|USP8_uc001zyn.4_Missense_Mutation_p.P703S|USP8_uc010ufh.2_Missense_Mutation_p.P597S|USP8_uc001zyp.4_5'Flank	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	703					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCCACAGATTCCTGCTGAGCG	0.512000														46			36		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825161	4825161	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:4825161G>A	uc021qcs.1	-	0	450	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGCATCACGATGGTCCCCA	0.572000														36			29		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117749276	117749276	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:117749276C>T	uc001twn.2	-	2	1558	c.847G>A	c.(847-849)Gag>Aag	p.E283K	NOS1_uc021reo.1_5'Flank|NOS1_uc001twm.2_Missense_Mutation_p.E283K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	283					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTACCTGCTCCTTCTCTGAA	0.562000														5			7		0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86602438	86602438	+	Silent	SNP	G	A	A	rs148657129		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:86602438G>A	uc002fjq.3	+	0	1582	c.1497G>A	c.(1495-1497)acG>acA	p.T499T		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	499					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACGACTGCACGAAATACTGAC	0.647000									Late-onset Hereditary Lymphedema					21			12		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76734939	76734939	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:76734939C>T	uc003pik.1	-	4	664	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	178					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTTCACCAGGCTCTCCCAATG	0.338000														8			4		0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45013411	45013411	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:45013411G>A	uc004dgg.2	-	3	780	c.705C>T	c.(703-705)ccC>ccT	p.P235P		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	235						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						CCAGGTACTTGGGCAGCGGCC	0.557000														11			9		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19390897	19390897	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:19390897G>A	uc022btq.1	-	21	2982	c.2982C>T	c.(2980-2982)tcC>tcT	p.S994S	MAP3K15_uc004czj.2_Silent_p.S429S|MAP3K15_uc004czk.2_Silent_p.S469S|MAP3K15_uc004czi.2_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	994							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGTCCTCCGGGGACGAGGCCA	0.612000														47			28		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158238851	158238851	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:158238851C>T	uc003ipm.4	+	4	1167	c.708C>T	c.(706-708)atC>atT	p.I236I	GRIA2_uc011cit.2_Silent_p.I189I|GRIA2_uc021xtr.1_Silent_p.I236I|GRIA2_uc003ipl.4_Silent_p.I236I|GRIA2_uc003ipk.4_Silent_p.I189I|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	236					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACCACTACATCATTGCAAATC	0.249000														14			6		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124934394	124934394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:124934394G>A	uc021rga.1	-	6	899	c.782C>T	c.(781-783)tCc>tTc	p.S261F	NCOR2_uc021rgb.1_Missense_Mutation_p.S261F|NCOR2_uc010tbb.2_Missense_Mutation_p.S261F|NCOR2_uc010tbc.2_Missense_Mutation_p.S261F|NCOR2_uc021rgc.1_Missense_Mutation_p.S261F|NCOR2_uc010tba.2_Missense_Mutation_p.S261F|NCOR2_uc001ugj.1_Missense_Mutation_p.S261F|NCOR2_uc001ugk.1_Missense_Mutation_p.S261F	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	261	Interaction with SIN3A/B (By similarity).				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCGGGTGTCGGAGGGCTGGTT	0.622000														16			11		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186946727	186946727	+	Silent	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:186946727A>G	uc001gsc.3	+	15	1972	c.1767A>G	c.(1765-1767)gaA>gaG	p.E589E	PLA2G4A_uc010pos.2_Silent_p.E529E	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	589	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TCCCATAGGAACTTCTACTTG	0.403000														20			9		0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316866	11316866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:11316866C>T	uc004cus.3	+	5	453	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.H115Y|AMELX_uc004cuu.3_Missense_Mutation_p.H99Y	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	115					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AATCCAACACCACCAGCCAAA	0.642000														48			32		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65835464	65835464	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:65835464C>T	uc001ogy.1	+	19	2418	c.2378C>T	c.(2377-2379)gCc>gTc	p.A793V	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	793					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AAGAGAACAGCCACTGTTGGA	0.512000											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			32		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22951144	22951144	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:22951144C>T	uc021urt.1	-	2	344	c.189G>A	c.(187-189)tgG>tgA	p.W63*		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.V62F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTCATATTCCAAGGCTCTT	0.378000														15			7		0	0	1	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423623	142423623	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:142423623C>T	uc010lol.1	+	1	312	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGGAATTTCCCCCTGATCC	0.498000														19			17		0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927325	28927325	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:28927325G>A	uc003jgz.1	+	0		c.349G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		TGAAGGTAATGAAACAGAAGT	0.413000														27			17		0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890537	63890537	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:63890537G>A	uc003jtj.3	+	4	464	c.464_splice	c.e4-1	p.G155_splice	RGS7BP_uc011cqu.2_Splice_Site_p.G22_splice	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	155					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCTCCCTTAGGAAAGGAACCT	0.473000														8			46		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424571	56424571	+	Silent	SNP	G	A	A	rs142264094	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:56424571G>A	uc010ygg.2	-	4	637	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	204							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATGTATTACGGATATATACGT	0.498000														58			43		0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190904341	190904341	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:190904341G>A	uc011clg.2	-	3	644	c.426C>T	c.(424-426)acC>acT	p.T142T				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	214					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										GCAGTTTTAGGGTCCTGGAAC	0.537000														55			5		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798234	75798234	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:75798234G>A	uc002bal.3	-	6	1258	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	250						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGGGTAGGAACTGGAAAT	0.537000														20			10		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161431	123161431	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:123161431C>T	uc003ieh.3	+	26	4639	c.4594C>T	c.(4594-4596)Cgt>Tgt	p.R1532C	KIAA1109_uc003iei.1_Missense_Mutation_p.R1285C|KIAA1109_uc010ins.1_Missense_Mutation_p.R875C|KIAA1109_uc003iek.2_Missense_Mutation_p.R151C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1532					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCATTGCATCGTCCCCTTGA	0.383000														46			25		0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744300	744300	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:744300G>A	uc002wed.4	-	2	1254	c.915C>T	c.(913-915)acC>acT	p.T305T	SLC52A3_uc002wee.2_Silent_p.T305T	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	305					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										AGGCCACCAGGGTATAGATGA	0.642000														38			23		0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74756199	74756199	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:74756199G>A	uc001xpr.2	-	13	1595	c.1443C>T	c.(1441-1443)gtC>gtT	p.V481V	ABCD4_uc001xps.2_Silent_p.V322V|ABCD4_uc010tur.2_Silent_p.V377V	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	481	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGTCGGGGTAGACCTCCTTCA	0.552000														13			3		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152801762	152801762	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:152801762G>A	uc004fht.1	+	0	183	c.57G>A	c.(55-57)cgG>cgA	p.R19R	ATP2B3_uc004fhs.1_Silent_p.R19R	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	19					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGCAGCGGGATGTCCCCC	0.642000														3			4		0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949525	61949525	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:61949525C>T	uc002jch.3	-	4	730	c.615G>A	c.(613-615)atG>atA	p.M205I	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.M110I	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	205					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						GGCACTGCACCATGCGCAGGA	0.587000														58			25		0	0	1	0	0
GATA5	140628	broad.mit.edu	37	20	61041534	61041534	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:61041534G>A	uc002ycx.1	-	3	835	c.773C>T	c.(772-774)tCg>tTg	p.S258L		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	Homo sapiens GATA binding protein 5 (GATA5), mRNA.	258					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CTCCCCCTCCGAGTTCCGCCG	0.701000														5			3		0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890396	43890396	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:43890396G>A	uc001zsc.3	+	7	1274	c.882G>A	c.(880-882)gaG>gaA	p.E294E	CKMT1B_uc010uds.2_Silent_p.E325E|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc010bdj.3_Non-coding_Transcript|CKMT1B_uc010udy.1_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	294	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTCAGGTGGAGAGACTTATCC	0.473000														73			52		0	0	1	0	0
IPW	3653	broad.mit.edu	37	15	25331747	25331747	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:25331747C>T	uc001yyb.4	+	2		c.356C>T			IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Intron|IPW_uc001yyd.3_Intron|IPW_uc001yye.1_Non-coding_Transcript|SNORD116-20_uc001yyf.3_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		ATACCGTCATCCTCGTCGAAC	0.468000														110			47		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642220	57642220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:57642220G>A	uc002qny.3	+	3	2533	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	USP29_uc021vci.1_Missense_Mutation_p.G726E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	726					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTCCAGAAGGATCTCAAGGA	0.428000														21			13		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72205785	72205785	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:72205785G>A	uc001xms.3	+	21	5683	c.5322G>A	c.(5320-5322)gaG>gaA	p.E1774E	SIPA1L1_uc001xmt.3_Silent_p.E1753E|SIPA1L1_uc001xmu.3_Silent_p.E1752E|SIPA1L1_uc001xmv.3_Silent_p.E1773E|SIPA1L1_uc010ttm.2_Silent_p.E1227E|DKFZp686G1344_uc021rvu.1_5'Flank	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1774					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCTGCGAGAGGACAACCTGA	0.537000														35			19		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20795139	20795139	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:20795139G>A	uc010kuh.3	+	27	3903	c.3666G>A	c.(3664-3666)ttG>ttA	p.L1222L	ABCB5_uc003suw.4_Silent_p.L777L	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	777					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACGCAGATTTGATAGTGGTTC	0.453000														18			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077720	9077720	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9077720C>T	uc002mkp.3	-	2	9930	c.9726G>A	c.(9724-9726)gtG>gtA	p.V3242V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3243	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						TGACTGGTTCCACTGTGGTCT	0.532000														57			46		0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2515513	2515513	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:2515513C>T	uc003gfb.3	+	7	888	c.540C>T	c.(538-540)atC>atT	p.I180I	RNF4_uc010icj.3_3'UTR|RNF4_uc003gfc.3_Silent_p.I180I	NM_002938	NP_002929	P78317	RNF4_HUMAN	Homo sapiens ring finger protein 4 (RNF4), transcript variant 2, mRNA.	180					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	PML body|cytoplasm	DNA binding|SUMO polymer binding|androgen receptor binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				GGAAAAAGATCAACCACAAAC	0.493000														30			31		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54872617	54872617	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:54872617G>A	uc003dhf.3	+	15	1541	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G404E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G232E	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	498	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ATTCTTCTGGGAGTGGTTGGC	0.388000														46			31		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560697	44560697	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:44560697C>T	uc002lcr.1	-	0	1292	c.939G>A	c.(937-939)tcG>tcA	p.S313S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	313					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTTCTTGTTCGAGTGACTGT	0.617000														86			50		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653788	89653788	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:89653788A>C	uc001kfb.3	+	1	1118	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	29	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.Y27fs*1(3)|p.Y27_N212>Y(2)|p.I28M(1)|p.I28fs*17(1)|p.Y29fs*25(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCAGATATTTATCCAAACATT	0.294000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				6			11		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156786131	156786131	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:156786131A>T	uc021ygm.1	+	23	2927	c.2789A>T	c.(2788-2790)gAa>gTa	p.E930V	CYFIP2_uc011ddn.2_Missense_Mutation_p.E905V|CYFIP2_uc011ddo.2_Missense_Mutation_p.E735V|CYFIP2_uc021ygn.1_Missense_Mutation_p.E930V|CYFIP2_uc021ygo.1_Missense_Mutation_p.E930V|CYFIP2_uc003lwt.3_Missense_Mutation_p.E834V|CYFIP2_uc011ddp.2_Missense_Mutation_p.E665V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	956					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATGGAGGAACTGCTAAAG	0.463000														39			26		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233398649	233398649	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:233398649G>A	uc002vsw.3	+	9	1060	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	CHRND_uc010zmg.2_Silent_p.L337L|CHRND_uc010zmh.2_Silent_p.L158L	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	352					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGCTCTTCCTGGAGACCCTGC	0.592000														14			32		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969351	5969351	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:5969351C>T	uc010qzt.2	+	0	775	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACCATCCTTCTGGTTTT	0.522000														81			56		0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12294322	12294322	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:12294322G>A	uc003nae.4	+	2	716	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	EDN1_uc003nad.3_Missense_Mutation_p.E128K|EDN1_uc003naf.4_Missense_Mutation_p.E127K	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	128					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AGCAGGAAAAGAACTCAGGTG	0.428000														57			16		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052665	17052665	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:17052665G>A	uc011awc.2	+	2	1899	c.1803G>A	c.(1801-1803)gtG>gtA	p.V601V	PLCL2_uc011awd.2_Silent_p.V483V	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	609					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGTGCCTGTGAAGCGATTTC	0.438000														22			14		0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129373651	129373651	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:129373651G>A	uc004evm.3	-	5	601	c.398C>T	c.(397-399)tCa>tTa	p.S133L	ZNF280C_uc010nrf.2_Missense_Mutation_p.S133L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	133	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCCAACTTGTGAATTCTTTGT	0.294000														15			8		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494201	111494201	+	Silent	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:111494201A>T	uc001eaa.3	-	1	1561	c.1305T>A	c.(1303-1305)gcT>gcA	p.A435A	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGCCATGGAAGCAAGCTGGG	0.393000														62			40		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233225830	233225830	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:233225830C>T	uc001hvl.2	-	22	4288	c.4053G>A	c.(4051-4053)gtG>gtA	p.V1351V	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1351						integral to membrane		p.V1351L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCAGAATTTCACTGGCCTGA	0.423000														21			8		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6599013	6599013	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:6599013C>T	uc003gjf.1	+	7	1267	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MAN2B2_uc003gje.1_Missense_Mutation_p.R411C|MAN2B2_uc011bwf.1_Missense_Mutation_p.R360C	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	411					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCAGCAGCTTCGCTGGGCCGT	0.632000														29			25		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117977619	117977619	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:117977619G>A	uc001two.2	-	9	1560	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	531					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCTGGCGAGGAGGGCGT	0.632000														35			21		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21427487	21427487	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:21427487C>T	uc002kuq.3	+	31	4077	c.3991C>T	c.(3991-3993)Cgc>Tgc	p.R1331C	LAMA3_uc002kur.3_Missense_Mutation_p.R1331C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1331	Domain III B.|Laminin EGF-like 10.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCCTCCCCGCACGGTCAG	0.617000														34			20		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135965	40135965	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:40135965C>T	uc021qgf.1	-	0	1878	c.1878G>A	c.(1876-1878)ttG>ttA	p.L626L	LRRC4C_uc001mxc.1_Silent_p.L622L|LRRC4C_uc001mxd.1_Silent_p.L622L|LRRC4C_uc001mxa.1_Silent_p.L626L|LRRC4C_uc001mxb.1_Silent_p.L622L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	626					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCATTCGGATCAATAACGGTT	0.308000														21			22		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945813	66945813	+	Silent	SNP	G	A	A	rs145107014		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:66945813G>A	uc002eql.3	-	12	1973	c.1779C>T	c.(1777-1779)agC>agT	p.S593S	CDH16_uc010cdy.3_Silent_p.S593S|CDH16_uc021tjx.1_Silent_p.S593S|CDH16_uc002eqm.3_Silent_p.S496S	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	593	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGAGGGTTCGGCTGATGGGGT	0.627000														30			28		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589659	156589659	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:156589659C>T	uc003lwn.3	-	1	1717	c.1617G>A	c.(1615-1617)agG>agA	p.R539R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	539						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCTGAGGCTCCTTAAAAAAG	0.458000														46			42		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502563	140502563	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140502563G>A	uc003lip.1	+	0	983	c.983G>A	c.(982-984)gGa>gAa	p.G328E		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	328	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCTTTCTGGAAAAGGCACT	0.418000														99			60		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539195	41539195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:41539195C>T	uc002yyq.1	-	15	3420	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	990	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGTGAACTTCCTGAGGTGGA	0.532000														10			22		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235902	23235902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:23235902C>T	uc001wgn.2	+	0	172	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	OXA1L_uc010tnc.2_Missense_Mutation_p.P58S|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	p.P58S(2)|p.P58P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAGTCCTCTTCCGGGCAAAAT	0.607000														66			43		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924229	24924229	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:24924229G>A	uc001ywo.3	+	0	3689	c.3215G>A	c.(3214-3216)gGg>gAg	p.G1072E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1072					cell differentiation|multicellular organismal development|spermatogenesis			p.G1072E(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCACCACAAGGGGCTAGCAAC	0.542000														38			24		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589270	140589270	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140589270T>G	uc003liz.3	+	0	980	c.791T>G	c.(790-792)gTc>gGc	p.V264G	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	264	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGTGACCGTCTCAGCCTGG	0.423000														52			47		0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2446398	2446398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:2446398C>T	uc002wfz.1	-	2	386	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SNRPB_uc002wga.1_Missense_Mutation_p.E75K|SNRPB_uc010zpv.2_5'UTR|SNRPB_uc002wgb.3_Missense_Mutation_p.E75K|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	75					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding	p.G74G(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						ACCAGATTCTCCCCTCGCAGC	0.522000														27			28		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86377599	86377599	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:86377599A>G	uc003ydk.2	+	1	313	c.133A>G	c.(133-135)Aag>Gag	p.K45E		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	45					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCCTTCCCTGAAGCCCCTGTC	0.517000														25			15		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91295039	91295039	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:91295039T>C	uc002bpr.3	+	3	919	c.822T>C	c.(820-822)aaT>aaC	p.N274N	BLM_uc010uqh.2_Silent_p.N274N|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Silent_p.N274N	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	274					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAAGAAGAATTTGGAAGAAG	0.333000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					23			6		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68777091	68777091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:68777091C>T	uc003hdr.1	-	9	1356	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R409Q	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	412	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						AATCCAGTTTCGGTAATAAGT	0.378000														41			27		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77651399	77651399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:77651399G>A	uc011bgk.2	+	20	3548	c.2905G>A	c.(2905-2907)Gca>Aca	p.A969T	ROBO2_uc021xat.1_Missense_Mutation_p.A981T|ROBO2_uc003dpy.4_Missense_Mutation_p.A965T|ROBO2_uc003dpz.3_Missense_Mutation_p.A969T|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.A92T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	965					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGATAAAACAGCAACGATGCT	0.458000														29			14		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237972324	237972324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:237972324G>A	uc001hyl.1	+	99	14542	c.14422G>A	c.(14422-14424)Gat>Aat	p.D4808N	RYR2_uc010pyb.1_Missense_Mutation_p.D241N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4808					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D4806Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAATGTGACGATATGCTAAC	0.338000														54			27		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151406	73151406	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:73151406C>T	uc004aid.3	-	24	4831	c.4587G>A	c.(4585-4587)agG>agA	p.R1529R	TRPM3_uc004ahu.3_Silent_p.R1371R|TRPM3_uc004ahv.3_Silent_p.R1331R|TRPM3_uc004ahw.3_Silent_p.R1401R|TRPM3_uc004ahx.3_Silent_p.R1388R|TRPM3_uc004ahy.3_Silent_p.R1391R|TRPM3_uc004ahz.3_Silent_p.R1378R|TRPM3_uc004aia.3_Silent_p.R1376R|TRPM3_uc004aib.3_Silent_p.R1366R|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1554						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATAATAGCTCCTTGAGGGGG	0.448000														13			31		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5327602	5327602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:5327602C>T	uc003sod.3	+	1	316	c.155C>T	c.(154-156)gCt>gTt	p.A52V	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.A52V|SLC29A4_uc003soe.3_Missense_Mutation_p.A52V	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	52					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGCGTCCCAGCTTTCACGGAT	0.657000														11			7		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52427426	52427426	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:52427426C>T	uc011bef.2	+	65	10812	c.10551C>T	c.(10549-10551)ctC>ctT	p.L3517L	DNAH1_uc003ddv.3_Silent_p.L375L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3582					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCGCAGCCTCTTTGAGAAGC	0.532000														29			17		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541857	55541857	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:55541857C>T	uc003xsd.1	+	3	5563	c.5415C>T	c.(5413-5415)ctC>ctT	p.L1805L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1805					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTCAGAACTCGAGGAACTGA	0.443000														6			6		0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75051376	75051376	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:75051376G>C	uc003udk.4	-	12	3044	c.2159C>G	c.(2158-2160)cCa>cGa	p.P720R		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	962	Pore side (Potential).			P -> L (in Ref. 2; BC082993).	mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGTAAGGGCTGGCTTGGCGGC	0.657000														20			8		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16980669	16980669	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:16980669C>T	uc002ney.2	+	13	2324	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P	SIN3B_uc002nez.2_Silent_p.P735P|SIN3B_uc010xpi.1_Silent_p.P325P	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	767					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCACAAGCCCCTGGACGATG	0.647000														30			15		0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836180	68836180	+	Missense_Mutation	SNP	G	A	A	rs41539891		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:68836180G>A	uc004dxs.3	+	0	270	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	EDA_uc011mpj.2_Missense_Mutation_p.E10K|EDA_uc004dxr.3_Missense_Mutation_p.E10K|EDA_uc004dxm.1_Missense_Mutation_p.E10K|EDA_uc004dxn.1_Missense_Mutation_p.E10K|EDA_uc004dxp.1_Missense_Mutation_p.E10K|EDA_uc004dxq.1_Missense_Mutation_p.E10K	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	10					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GGAGCGCAGGGAACTCCTGCC	0.721000														11			7		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1645433	1645433	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:1645433G>A	uc003wpl.3	+	10	2774	c.2677G>A	c.(2677-2679)Gac>Aac	p.D893N	DLGAP2_uc003wpm.3_Missense_Mutation_p.D879N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	972					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCGGCTCAACGACTGGAAGAT	0.607000														33			20		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763549	77763549	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:77763549C>T	uc003yau.2	+	9	4779	c.4392C>T	c.(4390-4392)ccC>ccT	p.P1464P	ZFHX4_uc003yaw.1_Silent_p.P1419P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1419						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1464P(2)|p.P1464H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTTGCCCGTGAATGGAG	0.507000										HNSCC(33;0.089)				13			4		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49430390	49430390	+	Missense_Mutation	SNP	C	T	T	rs146394582		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:49430390C>T	uc002efr.3	+	3	494	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	151										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AAACCCATTCCGTCGACAAAG	0.493000														23			12		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39620353	39620353	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:39620353C>T	uc002hwr.3	-	4	1034	c.973G>A	c.(973-975)Gag>Aag	p.E325K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	325	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCCTGCAGCTCGATCTCCAGC	0.592000														27			12		0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43198601	43198601	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:43198601G>A	uc002iib.3	-	1	416	c.302C>T	c.(301-303)cCg>cTg	p.P101L		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	101	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	TGGCGCACGCGGGATGCGCCG	0.731000														10			10		0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238605	205238605	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:205238605C>T	uc021pia.1	+	2	1930	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	TMCC2_uc010prf.2_Silent_p.P347P|TMCC2_uc001hca.3_Silent_p.P200P|TMCC2_uc001hcb.2_Silent_p.P185P|TMCC2_uc001hcc.2_Silent_p.P46P|TMCC2_uc001hcd.3_Silent_p.P192P	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	425						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGTCCAAGCCCCGGGAGTTTG	0.672000														46			19		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076622	57076622	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:57076622G>A	uc001njr.3	-	4	3875	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V	TNKS1BP1_uc001njs.3_Missense_Mutation_p.A1188V|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.A639V	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1188	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCCACGGCACTCTCCCT	0.617000														76			51		0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52217175	52217175	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:52217175G>A	uc002pxn.1	-	3	1276	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	HAS1_uc010epc.1_Silent_p.F14F|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Silent_p.F414F|HAS1_uc002pxp.1_Silent_p.F413F	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	414					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.L420L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGCCGCCACGAAGAAGGGGA	0.672000														18			7		0	0	1	0	0
TMEM54	113452	broad.mit.edu	37	1	33360931	33360931	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:33360931C>T	uc001bwi.1	-	4	683	c.569G>A	c.(568-570)tGg>tAg	p.W190*	TMEM54_uc001bwj.1_Nonsense_Mutation_p.W137*|TMEM54_uc001bwk.1_Nonsense_Mutation_p.W170*	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	Homo sapiens transmembrane protein 54 (TMEM54), mRNA.	190						integral to membrane		p.P189S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTCCCCCACCAGGGCCTCAG	0.642000														12			5		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170633	53170633	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:53170633G>A	uc001sax.3	-	0	497	c.443C>T	c.(442-444)cCt>cTt	p.P148L		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	148	Head.				cytoskeleton organization	keratin filament	structural molecule activity	p.G147G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAAGCCCCCAGGGCCAAAGcc	0.582000														16			13		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107015508	107015508	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:107015508G>A	uc001kyi.1	+	23	3513	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1096						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTCCAGTTTGAGCTGAAGCC	0.458000														9			12		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903203	76903203	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:76903203C>T	uc001oyb.2	+	30	4304	c.4032C>T	c.(4030-4032)ctC>ctT	p.L1344L	MYO7A_uc010rsm.1_Silent_p.L1333L|MYO7A_uc001oyc.2_Silent_p.L1344L|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.L555L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1344	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTGGAGGCTCTTCTTCCGCA	0.647000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			17		0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54665994	54665994	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:54665994G>A	uc001cxa.4	+	0	155	c.78G>A	c.(76-78)ccG>ccA	p.P26P	CYB5RL_uc001cwy.4_5'Flank|CYB5RL_uc009vzo.3_5'Flank|CYB5RL_uc001cwx.4_5'Flank|MRPL37_uc009vzp.3_5'UTR	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	26					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TCGGGGCCCCGAGACGCGGGG	0.687000														45			32		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216405466	216405466	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:216405466G>A	uc001hku.1	-	13	3209	c.2822C>T	c.(2821-2823)tCt>tTt	p.S941F	USH2A_uc001hkv.3_Missense_Mutation_p.S941F	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	941	Laminin EGF-like 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGCCTGGAGAAATATAAAA	0.343000										HNSCC(13;0.011)				25			25		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68993058	68993058	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:68993058G>A	uc003xxv.1	+	16	1890	c.1863G>A	c.(1861-1863)aaG>aaA	p.K621K	PREX2_uc003xxu.1_Silent_p.K621K|PREX2_uc011lez.1_Silent_p.K556K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	621	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGTAGAAAAGGGATCTAATG	0.274000														13			6		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164525	151164525	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:151164525G>A	uc011bod.2	-	3	3244	c.3244C>T	c.(3244-3246)Cca>Tca	p.P1082S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1082					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P1082R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCACTTGGAAAAGACAAT	0.483000														67			26		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525597	176525597	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:176525597G>A	uc001gkz.3	+	1	1303	c.139G>A	c.(139-141)Gga>Aga	p.G47R	PAPPA2_uc001gky.1_Missense_Mutation_p.G47R|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	47					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGTTGGAAGGAGAACGTTG	0.557000														34			33		0	0	1	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68338067	68338067	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:68338067C>T	uc002evw.2	-	2	579	c.540G>A	c.(538-540)gaG>gaA	p.E180E		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	Homo sapiens solute carrier family 7, member 6 opposite strand (SLC7A6OS), mRNA.	180					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CTGGTCCATCCTCAGACACAG	0.478000														60			38		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923500	9923500	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:9923500C>T	uc010uym.2	-	9	2097	c.1787G>A	c.(1786-1788)gGg>gAg	p.G596E	GRIN2A_uc002czo.4_Missense_Mutation_p.G596E|GRIN2A_uc010uyn.2_Missense_Mutation_p.G439E|GRIN2A_uc002czr.4_Missense_Mutation_p.G596E	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	596					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAAGAAGGCCCATGGGGTGC	0.478000														10			14		0	0	1	0	0
SGMS2	166929	broad.mit.edu	37	4	108816868	108816868	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:108816868C>T	uc003hyo.3	+	1	798	c.159C>T	c.(157-159)acC>acT	p.T53T	SGMS2_uc003hyl.4_Silent_p.T53T|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Silent_p.T53T	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	53					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	GAAAAGGCACCAAAAAGTACC	0.443000														25			13		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39463875	39463875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:39463875G>A	uc003xni.3	+	2	237	c.182G>A	c.(181-183)gGa>gAa	p.G61E	ADAM18_uc003xnh.3_Missense_Mutation_p.G61E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G61E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	61					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTACATCTCGGAAAACAGTAA	0.284000														18			6		0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186336952	186336952	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:186336952C>T	uc003ixo.2	-	4	520	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	UFSP2_uc003ixq.2_Missense_Mutation_p.E25K	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	135						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTTTCCCTTTCAATGATGGGC	0.373000														24			21		0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20358697	20358697	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:20358697G>A	uc002gxa.1	-	4	524	c.459C>T	c.(457-459)gtC>gtT	p.V153V	LGALS9B_uc002gwz.1_Silent_p.V153V|LGALS9B_uc010vzh.1_Silent_p.V65V	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	153							sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAACGGGGACTGTGCGGG	0.587000														2			13		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612233	189612233	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:189612233A>G	uc003fry.2	+	13	2074	c.1985A>G	c.(1984-1986)aAc>aGc	p.N662S	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.N568S|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.N483S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	662	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AATGACTTCAACTTTGACATG	0.552000										HNSCC(45;0.13)				41			20		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723347	58723347	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:58723347G>A	uc001nnh.2	+	6	899	c.849G>A	c.(847-849)atG>atA	p.M283I	GLYATL1_uc001nnf.3_Missense_Mutation_p.M252I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.M252I|GLYATL1_uc001nnj.2_Missense_Mutation_p.M252I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	252						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGCGATACATGAAATATCTGC	0.453000														17			9		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286642	240286642	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:240286642T>C	uc010pye.2	+	1	2004	c.1779T>C	c.(1777-1779)ttT>ttC	p.F593F	FMN2_uc010pyd.2_Silent_p.F593F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	593					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCTTCGTTTGATGTAAGTA	0.448000														23			15		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295638	20295638	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:20295638G>A	uc010tkv.2	+	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATAAGAGAATTCATCCT	0.388000														137			34		0	0	1	0	0
REEP4	80346	broad.mit.edu	37	8	21997708	21997708	+	Silent	SNP	G	A	A	rs146312249		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:21997708G>A	uc003xau.1	-	2	612	c.159C>T	c.(157-159)atC>atT	p.I53I	REEP4_uc010ltt.1_Silent_p.I53I|REEP4_uc011kyz.1_Silent_p.I53I	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	Homo sapiens receptor accessory protein 4 (REEP4), mRNA.	53						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TGTCTGTAACGATCTCTGCTG	0.597000														35			16		0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428510	128428510	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:128428510G>A	uc003ysf.3	+	0	654	c.399G>A	c.(397-399)ccG>ccA	p.P133P	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	133						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AGCAAAACCCGGAGAAGTCCC	0.577000														10			13		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167983673	167983673	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:167983673T>G	uc011cjq.1	-	1	298	c.241A>C	c.(241-243)Act>Cct	p.T81P	SPOCK3_uc021xuf.1_Missense_Mutation_p.T72P|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Missense_Mutation_p.T72P|SPOCK3_uc011cjs.1_Missense_Mutation_p.T21P|SPOCK3_uc003irj.1_Missense_Mutation_p.T69P|SPOCK3_uc011cjt.1_Intron|SPOCK3_uc011cjp.2_Missense_Mutation_p.T69P|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.T69P|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	72					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GGACTCCAAGTGCGGAAATAA	0.294000														26			16		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568371	140568371	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140568371C>A	uc003liw.1	+	1	1477	c.1477C>A	c.(1477-1479)Cag>Aag	p.Q493K		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	494	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCCGCCCCAGGACCCACA	0.657000														165			86		6.88379e-33	7.02872e-33	1	1	0
KCNQ5	56479	broad.mit.edu	37	6	73904739	73904739	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:73904739G>A	uc011dyh.2	+	14	2805	c.2458G>A	c.(2458-2460)Gac>Aac	p.D820N	KCNQ5_uc011dyi.2_Missense_Mutation_p.D811N|KCNQ5_uc010kat.3_Missense_Mutation_p.D792N|KCNQ5_uc003pgk.3_Missense_Mutation_p.D801N|KCNQ5_uc011dyj.2_Missense_Mutation_p.D691N|KCNQ5_uc011dyk.2_Missense_Mutation_p.D551N	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	801					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCTCACCAAGGACCGTTCTAT	0.488000														11			14		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105912892	105912892	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:105912892A>T	uc002tcq.3	-	3	1043	c.959T>A	c.(958-960)cTt>cAt	p.L320H	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.L90H|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.L320H	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	320					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCTTGCTAGAAGATCCTGTAT	0.408000														11			19		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42154373	42154373	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:42154373G>A	uc001zos.3	-	43	7731	c.7398C>T	c.(7396-7398)agC>agT	p.S2466S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2501					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTTCCACAGGGCTGCGAGGAG	0.627000														8			3		0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67457672	67457672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:67457672C>T	uc002aqj.3	+	2	780	c.482C>T	c.(481-483)cCc>cTc	p.P161L	SMAD3_uc010ujr.2_Missense_Mutation_p.P56L|SMAD3_uc010ujs.2_Missense_Mutation_p.P117L|SMAD3_uc010ujt.2_5'Flank	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	161	Linker.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CATTCCATCCCCGAAAACACT	0.632000														106			50		0	0	1	0	0
COQ4	51117	broad.mit.edu	37	9	131085313	131085313	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:131085313G>A	uc004bur.4	+	1	436	c.89G>A	c.(88-90)aGg>aAg	p.R30K	TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Missense_Mutation_p.R30K|COQ4_uc010mxy.3_Missense_Mutation_p.R6K	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	30					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CTCCGGGCTAGGAGCGACGGC	0.706000														12			26		0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216491	78216491	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:78216491C>T	uc022bzl.1	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I	P2RY10_uc004ede.3_Silent_p.I158I|P2RY10_uc004edf.3_Silent_p.I158I	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	158						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I158I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCTGGATCGTTGTGGGGA	0.493000														33			30		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924376	226924376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:226924376G>A	uc010pvo.2	-	1	1124	c.784C>T	c.(784-786)Cct>Tct	p.P262S	ITPKB_uc001hqh.3_Missense_Mutation_p.P262S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	262							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGACTGGCAGGGATACCCTTC	0.597000														35			12		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126056	58126056	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:58126056G>A	uc010rke.2	-	0	487	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R163H(2)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAGAGAGGCGAAATGTATCT	0.413000														18			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070708	9070708	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9070708G>A	uc002mkp.3	-	2	16942	c.16738C>T	c.(16738-16740)Ctt>Ttt	p.L5580F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5582	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						TCCCAGGGAAGGATACCCTGT	0.507000														75			49		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306741	41306741	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:41306741C>T	uc002xkg.3	-	6	1102	c.918G>A	c.(916-918)tgG>tgA	p.W306*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.W306*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	306	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGGCTTGATCCACAGGTATG	0.547000														17			12		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806256	97806256	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:97806256C>T	uc011bgs.2	+	0	240	c.240C>T	c.(238-240)acC>acT	p.T80T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CCTCTATAACCCCTAGGATGC	0.413000														82			49		0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860231	23860231	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:23860231C>T	uc002wtr.1	-	0	150	c.83G>A	c.(82-84)aGg>aAg	p.R28K		NM_001900	NP_001891	P28325	CYTD_HUMAN	Homo sapiens cystatin D (CST5), mRNA.	28						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGCCAAGGTCCTAGATTGGGC	0.562000														58			42		0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98600485	98600485	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:98600485A>G	uc003dte.3	-	1	695	c.332T>C	c.(331-333)gTt>gCt	p.V111A	DCBLD2_uc003dtd.3_Missense_Mutation_p.V111A|DCBLD2_uc003dtf.1_Non-coding_Transcript	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	111	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTTGATGCGAACTCTCTCTCC	0.408000														61			36		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381566	81381566	+	Silent	SNP	C	T	T	rs137853235		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:81381566C>T	uc003uhl.3	-	4	660	c.495G>A	c.(493-495)tcG>tcA	p.S165S	HGF_uc003uhm.3_Intron|HGF_uc003uhn.1_Silent_p.S165S|HGF_uc003uho.1_Intron|HGF_uc003uhp.3_Silent_p.S165S	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	165	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCCGATAGCTCGAAGGCAAAA	0.403000														29			26		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61388181	61388181	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:61388181G>A	uc002ljk.4	+	7	903	c.732G>A	c.(730-732)atG>atA	p.M244I	SERPINB11_uc010xes.2_Missense_Mutation_p.M70I|SERPINB11_uc010dqd.3_Missense_Mutation_p.M131I|SERPINB11_uc002ljj.4_Missense_Mutation_p.M131I|SERPINB11_uc010dqe.3_Missense_Mutation_p.M44I|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	245					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AATTAAGCATGATTATTCTGC	0.373000														9			3		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128540237	128540237	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:128540237C>T	uc003qbk.3	-	5	1065	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	PTPRK_uc010kfc.3_Missense_Mutation_p.R233Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R233Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R233Q|PTPRK_uc003qbl.1_Missense_Mutation_p.R103Q|PTPRK_uc011ebv.1_Missense_Mutation_p.R233Q	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	233	Ig-like C2-type.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTCTCCATTTCGTCTCTGCAA	0.353000														7			20		0	0	1	0	0
FAM70A	55026	broad.mit.edu	37	X	119410842	119410842	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:119410842G>A	uc004eso.4	-	7	872	c.645C>T	c.(643-645)atC>atT	p.I215I	FAM70A_uc004esp.4_Silent_p.I191I|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	215						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						AGAGGTGGATGATATCTTGGC	0.557000														66			41		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600884	29600884	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:29600884G>T	uc001usl.4	+	0	2137	c.2079G>T	c.(2077-2079)aaG>aaT	p.K693N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	683	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACGAAGAGAAGGCAGCAGGTG	0.587000														36			6		0.248553	0.248553	1	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130218616	130218616	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:130218616G>A	uc004evz.3	+	5	1110	c.765G>A	c.(763-765)ggG>ggA	p.G255G	ARHGAP36_uc004ewa.3_Silent_p.G243G|ARHGAP36_uc004ewb.3_Silent_p.G224G|ARHGAP36_uc004ewc.3_Silent_p.G119G	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	255	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.V254M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCGCAGTGGGGATTTTTACCC	0.488000														42			29		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38462568	38462568	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:38462568T>C	uc002yvz.3	+	5	567	c.462T>C	c.(460-462)atT>atC	p.I154I	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.3_Silent_p.I154I|TTC3_uc002ywb.3_Silent_p.I154I|TTC3_uc010gnf.3_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.I154I	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	154					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TATTGAGAATTGGTTGTAAAA	0.358000														6			7		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22166979	22166979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:22166979C>T	uc010vbq.2	+	31	3593	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_Missense_Mutation_p.S244F|VWA3A_uc010bxe.1_Missense_Mutation_p.S268F	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	1166						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAGGCCCAATCCTTCAGGTAT	0.577000														39			38		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35453107	35453107	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:35453107A>G	uc003xjr.2	+	3	830	c.502A>G	c.(502-504)Agg>Ggg	p.R168G	UNC5D_uc003xjs.2_Missense_Mutation_p.R163G	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	168	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCACAAGGAAGGGAAGTTCC	0.483000														46			33		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750777	234750777	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:234750777G>A	uc002vvg.3	-	7	715	c.649C>T	c.(649-651)Cct>Tct	p.P217S	HJURP_uc010znd.2_Missense_Mutation_p.P156S|HJURP_uc010zne.2_Missense_Mutation_p.P125S	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	217					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGATGCAAAGGATCCCATTCT	0.493000														9			23		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370177	17370177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:17370177C>T	uc002nfs.1	-	6	1080	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.G259S|USHBP1_uc010eam.1_Missense_Mutation_p.G251S	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	323							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCACAGCGGCCCTTGTATCCC	0.567000														20			14		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640469	7640469	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:7640469G>A	uc001qsz.3	-	6	1763	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	CD163_uc001qta.3_Silent_p.F545F|CD163_uc009zfw.2_Silent_p.F545F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	545	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTCACACTGGAATTCTTCAG	0.532000														31			12		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177041199	177041199	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:177041199G>A	uc003iuj.3	+	4	864	c.561G>A	c.(559-561)ggG>ggA	p.G187G	WDR17_uc003ium.4_Silent_p.G163G|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	187										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACCAAAAGGGGAAAGTTGTGT	0.348000														38			23		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32843249	32843249	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:32843249G>C	uc003amn.2	-	2	324	c.324C>G	c.(322-324)aaC>aaG	p.N108K	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	108						extracellular region	lipopolysaccharide binding|phospholipid binding										CAGTGCCATGGTTGGTTAGCG	0.448000														33			18		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10705065	10705065	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:10705065G>A	uc001aro.3	-	17	4097	c.3777C>T	c.(3775-3777)ctC>ctT	p.L1259L		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGTGCCAGGGGAGCTTGGTGG	0.602000														58			36		0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30078327	30078327	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:30078327C>T	uc003npg.1	-	3	752	c.642G>A	c.(640-642)ggG>ggA	p.G214G	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	214						mitochondrion	ligase activity|zinc ion binding	p.A213T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CATAGTGTTTCCCCGCTTCCG	0.512000														98			37		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80369246	80369246	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:80369246G>A	uc003kha.2	+	4	912	c.862G>A	c.(862-864)Gac>Aac	p.D288N	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.D116N	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	288	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.D288D(1)|p.D287D(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAGCCACGACGACGTCAGCAG	0.453000														20			11		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600384	29600384	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:29600384G>A	uc001usl.4	+	0	1637	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	517						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAGAATGCAGATAAGATTGA	0.507000														44			13		0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124979378	124979378	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:124979378C>T	uc004blx.4	-	4	723	c.651G>A	c.(649-651)atG>atA	p.M217I	LHX6_uc022bmw.1_Missense_Mutation_p.M1I|LHX6_uc010mvw.3_Missense_Mutation_p.M188I|LHX6_uc022bmx.1_Missense_Mutation_p.M206I|LHX6_uc004bly.4_Missense_Mutation_p.M217I	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	188					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						GGTTCTCAATCATGGTGTCGT	0.652000														15			25		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802051	68802051	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:68802051C>T	uc021xag.1	-	3	742	c.249G>A	c.(247-249)gtG>gtA	p.V83V	FAM19A4_uc021xah.1_Silent_p.V83V	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	83						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TTGTGCCCGCCACCTGTCCCG	0.537000														31			17		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50250648	50250648	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:50250648C>T	uc002ppm.3	-	4	672	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	221							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCCCTTACCTCCAGCAGGGCA	0.557000														33			4		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201751991	201751991	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:201751991C>T	uc021phi.1	+	5	2698	c.2351C>T	c.(2350-2352)cCt>cTt	p.P784L	NAV1_uc001gwu.3_Missense_Mutation_p.P784L|NAV1_uc001gwv.1_Missense_Mutation_p.P292L|NAV1_uc001gww.2_Missense_Mutation_p.P393L|NAV1_uc001gwx.3_Missense_Mutation_p.P393L|NAV1_uc001gwy.1_Missense_Mutation_p.P165L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	784					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCACCAACCCCTCTCAGGTAC	0.542000														30			16		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298807	125298807	+	Silent	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:125298807G>T	uc004euk.2	-	0	1274	c.1101C>A	c.(1099-1101)acC>acA	p.T367T		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	367										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AACCATGGCCGGTGCCCACAG	0.657000														42			30		2.65835e-16	2.70761e-16	1	1	0
CFI	3426	broad.mit.edu	37	4	110662121	110662121	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:110662121G>A	uc011cft.2	-	13	1912	c.1704C>T	c.(1702-1704)acC>acT	p.T568T	CFI_uc003hzq.3_Silent_p.T357T|CFI_uc003hzr.4_Silent_p.T560T	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	560	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGCCACTTTGGTGTAAACAC	0.418000														73			56		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78202140	78202140	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:78202140G>A	uc001vki.3	+	27	1857	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	SCEL_uc010thx.2_Missense_Mutation_p.G521R|SCEL_uc001vkj.3_Missense_Mutation_p.G543R	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	563	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAACAAGAATGGAAGGTAAAG	0.234000														32			10		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112241749	112241749	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:112241749G>A	uc001tst.3	+	11	1589	c.1493G>A	c.(1492-1494)gGg>gAg	p.G498E	ALDH2_uc010syi.2_Missense_Mutation_p.G451E	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	498					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GGCGAGTACGGGCTGCAGGCA	0.582000			T	HMGA2	leiomyoma									8			3		0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136385356	136385356	+	Missense_Mutation	SNP	C	T	T	rs149158465	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:136385356C>T	uc011mdk.2	-	1	292	c.190G>A	c.(190-192)Gac>Aac	p.D64N		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	64						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						TCCAGGATGTCGTGACGCATG	0.577000														10			18		0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230365	155230365	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:155230365G>A	uc001fjs.3	-	2	464	c.230C>T	c.(229-231)cCc>cTc	p.P77L	SCAMP3_uc001fjt.3_Missense_Mutation_p.P51L	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	77					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGTTCTGTGGGGCTGAGCTT	0.607000														53			19		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562556	52562556	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:52562556C>T	uc003den.3	-	5	589	c.549_splice	c.e5-1	p.R183_splice	NT5DC2_uc003dem.3_Splice_Site_p.R16_splice|NT5DC2_uc010hmi.3_Splice_Site_p.R158_splice|NT5DC2_uc010hmj.3_Intron|NT5DC2_uc003deo.3_Splice_Site_p.R146_splice	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	146							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTGGAGGCCCCTGAGCAGGCC	0.597000														23			15		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51783792	51783792	+	Silent	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:51783792G>T	uc010ufy.2	-	19	5161	c.4936C>A	c.(4936-4938)Cga>Aga	p.R1646R	DMXL2_uc002abf.3_Silent_p.R1646R|DMXL2_uc010bfa.3_Silent_p.R1010R	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1646						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATGCATCTTCGAAGCGTGTTA	0.383000														30			31		1.45844e-13	1.47998e-13	1	1	0
MYO7A	4647	broad.mit.edu	37	11	76910700	76910700	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:76910700G>A	uc001oyb.2	+	34	4961	c.4689G>A	c.(4687-4689)gcG>gcA	p.A1563A	MYO7A_uc010rsm.1_Silent_p.A1514A|MYO7A_uc001oyc.2_Silent_p.A1525A|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.A736A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1563	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGGGGAGCGAAAACGACGG	0.632000														14			6		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58197441	58197442	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:58197441_58197442CC>TT	uc001sqj.2	-	13	1711_1712	c.1682_1683GG>AA	c.(1681-1683)ggg>gAA	p.G561E	AVIL_uc009zqe.2_Missense_Mutation_p.G554E|AVIL_uc001sqk.1_Missense_Mutation_p.G139E	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	561	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCCGCTCATCCCCACTAGACCC	0.569000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			14		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48522991	48522991	+	Missense_Mutation	SNP	C	T	T	rs139657764		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:48522991C>T	uc002pht.3	+	4	549	c.371C>T	c.(370-372)tCt>tTt	p.S124F		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	124	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGGGGAAATTCTCTCAGGAAG	0.463000														21			14		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18747451	18747451	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:18747451C>T	uc001rdt.3	+	28	4028	c.3912C>T	c.(3910-3912)ttC>ttT	p.F1304F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.F1345F|PIK3C2G_uc010sic.2_Silent_p.F1123F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1304	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTAGCTTTTTCCTCTCTGAGG	0.289000														15			11		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089265	57089265	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:57089265T>A	uc002qnl.4	+	5	2144	c.1468T>A	c.(1468-1470)Ttc>Atc	p.F490I	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGGGAAAGCTTTCCGGCAGAG	0.443000														28			19		0	0	1	0	0
ABCA17P	650655	broad.mit.edu	37	16	2474740	2474740	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:2474740C>T	uc002cqc.1	+	14		c.2909C>T								Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene (ABCA17P), non-coding RNA.																		TGGAGGAGTTCAAGGCCTTCG	0.667000														11			4		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775180	23775180	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:23775180G>A	uc003sws.4	+	6	574	c.507G>A	c.(505-507)ttG>ttA	p.L169L	STK31_uc003swt.4_Silent_p.L146L|STK31_uc011jze.2_Silent_p.L169L|STK31_uc010kuq.3_Silent_p.L146L	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	169							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGGGAGCTTGATTTTTGAAA	0.388000														28			23		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420335	53420335	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:53420335C>T	uc001vhi.3	-	0	2441	c.2237G>A	c.(2236-2238)tGg>tAg	p.W746*	PCDH8_uc001vhj.3_Nonsense_Mutation_p.W746*	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	746					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGGCGTGTCCCATTGCAGCAC	0.721000														59			6		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206772888	206772888	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:206772888G>A	uc001heh.2	-	9	1340	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	EIF2D_uc009xbw.2_Silent_p.H253H	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	377					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TATCTGGAGGGTGATAGGGCT	0.542000														33			20		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326071	152326071	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:152326071C>T	uc001ezw.4	-	2	4264	c.4191G>A	c.(4189-4191)gaG>gaA	p.E1397E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1397							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCAGTGGCCTCTCCTGTCT	0.507000														106			52		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105113	168105113	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:168105113C>T	uc002udx.3	+	8	7300	c.7211C>T	c.(7210-7212)tCt>tTt	p.S2404F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S2229F|XIRP2_uc010fpq.3_Missense_Mutation_p.S2182F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2229					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCTCGAACTCTCAGAATTCT	0.443000														4			24		0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37875454	37875454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:37875454C>T	uc003ass.2	-	3	753	c.490G>A	c.(490-492)Gac>Aac	p.D164N	MFNG_uc011anj.2_Missense_Mutation_p.D150N|MFNG_uc011ani.2_Missense_Mutation_p.D42N|CARD10_uc003ast.1_Non-coding_Transcript	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	164					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					ACATAGACGTCGCGGGCCAGC	0.627000														52			13		0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104120425	104120425	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:104120425G>A	uc010ouo.2	+	20	3008	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	AMY2B_uc001duq.3_Missense_Mutation_p.G435E|AMY2B_uc001dur.3_Missense_Mutation_p.G435E|AMY2B_uc001dus.1_Non-coding_Transcript	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	435					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.G435R(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTGGCTTTTGGGAGAGGAAAC	0.363000														107			58		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92257970	92257970	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:92257970C>T	uc001pdj.4	+	1	3480	c.3463C>T	c.(3463-3465)Cct>Tct	p.P1155S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1155	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATATATTATCCTGTTGTCAT	0.443000										TCGA Ovarian(4;0.039)				14			9		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623950	137623950	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:137623950G>A	uc004cfe.3	+	8	1748	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	456	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGCCAAAAGGGAGAACCAGC	0.547000														14			16		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137734050	137734050	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:137734050G>A	uc003lcy.1	+	9	3215	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	KDM3B_uc010jew.1_Silent_p.E661E|KDM3B_uc011cys.1_Silent_p.E37E	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1005					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E1005Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TAATGTCTGAGAAGGAGGCCA	0.478000														29			18		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155028558	155028558	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:155028558C>T	uc001fgr.1	+	8	848	c.747C>T	c.(745-747)ttC>ttT	p.F249F	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Silent_p.F233F|ADAM15_uc010peu.1_Silent_p.F266F|ADAM15_uc001fgx.1_Silent_p.F249F|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.F249F|ADAM15_uc001fgs.1_Silent_p.F249F|ADAM15_uc010pev.1_Silent_p.F259F|ADAM15_uc001fgu.1_Silent_p.F249F|ADAM15_uc001fgv.1_Silent_p.F249F|ADAM15_uc001fgw.1_Silent_p.F249F	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	249	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.F249L(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTTTCAGTTCTTCCGGCCCC	0.627000														37			16		0	0	1	0	0
SPINK6	404203	broad.mit.edu	37	5	147594500	147594500	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:147594500C>T	uc003lpa.3	+	3	533	c.230C>T	c.(229-231)cCt>cTt	p.P77L	SPINK6_uc021yff.1_Missense_Mutation_p.P77L	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.	77	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAAGCATCCTGGAAAATGC	0.378000														21			12		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2186472	2186473	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:2186472_2186473CC>TT	uc001lvq.3	-	12	1435_1436	c.1416_1417GG>AA	c.(1414-1419)aaggac>aaAAac	p.D473N	TH_uc001lvp.3_Missense_Mutation_p.D469N|TH_uc001lvr.3_Missense_Mutation_p.D442N|TH_uc010qxj.2_Missense_Mutation_p.D446N|TH_uc001lvs.3_Missense_Mutation_p.D348N|TH_uc001lvt.3_Missense_Mutation_p.D352N	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	473					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTGAGCTTGTCCTTGGCGTCAC	0.629000														43			27		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50248559	50248559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:50248559C>T	uc002ppm.3	-	6	1098	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	363							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGAAGCCGTCGACCCTGCCG	0.706000														21			6		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126792921	126792921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:126792921G>A	uc003kuh.4	+	25	3696	c.3334G>A	c.(3334-3336)Gac>Aac	p.D1112N	MEGF10_uc003kui.4_Missense_Mutation_p.D1112N	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1112	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTGTCATTATGACCTGCTGCC	0.512000														24			21		0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123505236	123505236	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:123505236C>T	uc004euf.4	+	3	743	c.382C>T	c.(382-384)Cca>Tca	p.P128S	SH2D1A_uc004euh.4_Missense_Mutation_p.P125S|SH2D1A_uc004eug.4_Non-coding_Transcript|SH2D1A_uc010nqw.3_Non-coding_Transcript|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Non-coding_Transcript	NM_002351	NP_002342	O60880	SH21A_HUMAN	Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.	128					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCTGAAAGCCCCATGAAGAAA	0.269000														13			8		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70641224	70641224	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:70641224G>A	uc004dzu.4	+	28	4498	c.4447G>A	c.(4447-4449)Gag>Aag	p.E1483K	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.E1504K|TAF1_uc004dzv.4_Missense_Mutation_p.E657K|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_5'Flank	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1483	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAACTCAAAGAGGTAAGACA	0.403000														15			8		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070779	129070779	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:129070779A>T	uc003kvb.1	+	21	3449	c.3449A>T	c.(3448-3450)aAt>aTt	p.N1150I	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1150					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATTAATGTAAATACCATAACA	0.348000														33			16		0	0	1	0	0
BRMS1L	84312	broad.mit.edu	37	14	36300691	36300691	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:36300691C>T	uc001wtl.3	+	1	344	c.218C>T	c.(217-219)aCc>aTc	p.T73I	BRMS1L_uc010tpx.1_Missense_Mutation_p.T25I	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	73					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AAACAGTTTACCGATCTCAAA	0.348000														11			8		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64597253	64597253	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:64597253G>A	uc001obs.4	-	29	3657	c.3657C>T	c.(3655-3657)atC>atT	p.I1219I		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1219	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCAGCTCACGGATGCGGCGCT	0.711000														18			7		0	0	1	0	0
CXorf56	63932	broad.mit.edu	37	X	118676541	118676541	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:118676541C>T	uc004erk.2	-	4	519	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	CXorf56_uc004erj.2_Missense_Mutation_p.R98Q|CXorf56_uc011mtu.2_Missense_Mutation_p.R133Q	NM_022101	NP_001164040	Q9H5V9	CX056_HUMAN	Homo sapiens chromosome X open reading frame 56 (CXorf56), transcript variant 1, mRNA.	147							protein binding			cervix(1)|endometrium(2)|lung(7)	10						GTCTTTGGTCCGTTTGGTCAT	0.507000														38			15		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79512820	79512820	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:79512820G>A	uc002kaq.3	-	5	2335	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	C17orf70_uc002kao.1_Silent_p.I403I|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Silent_p.I603I	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	754					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCACTCCCTGGATGGAAGATA	0.642000														5			9		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27455915	27455916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:27455915_27455916CC>TT	uc002dor.2	+	6	1174_1175	c.626_627CC>TT	c.(625-627)ccc>cTT	p.P209L	IL21R_uc002doq.2_Missense_Mutation_p.P187L|IL21R_uc002dos.2_Missense_Mutation_p.P187L	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	187	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.P187L(2)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCCCTCCTCCCCCTGGAGTTCC	0.594000			T	BCL6	NHL									25			22		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634774	32634774	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:32634774C>T	uc003zrg.1	-	0	894	c.804G>A	c.(802-804)ggG>ggA	p.G268G	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	268					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGACATTCTTCCCTGGTCCAA	0.493000														47			18		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141797438	141797438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:141797438G>A	uc003vwy.3	+	42	5104	c.5050G>A	c.(5050-5052)Gat>Aat	p.D1684N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1684	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGCTGGTATGATTACTACAC	0.413000														18			7		0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154020553	154020553	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:154020553G>A	uc004fmp.2	-	1	264	c.110C>T	c.(109-111)tCg>tTg	p.S37L	MPP1_uc011mzv.2_Missense_Mutation_p.S7L|MPP1_uc010nvg.2_Missense_Mutation_p.S37L|MPP1_uc011mzw.2_Missense_Mutation_p.S37L|MPP1_uc010nvh.2_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	37					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAATGGATGCGATACAGCCTG	0.532000														28			28		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808599	77808599	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:77808599G>A	uc002jxe.3	-	4	1005	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	281	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACCTCGCCGGACTTGATCTT	0.582000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			103		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45920565	45920565	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:45920565G>A	uc001jce.3	+	5	918	c.819G>A	c.(817-819)ttG>ttA	p.L273L	ALOX5_uc009xmt.3_Silent_p.L273L|ALOX5_uc010qfg.2_Silent_p.L273L|ALOX5_uc021ppr.1_Silent_p.L273L	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	273	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	AGCTCAGCTTGGAGCAGGAGG	0.627000														4			9		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83344332	83344332	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:83344332C>T	uc001paj.2	-	13	1850	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	DLG2_uc001pai.2_Missense_Mutation_p.R413Q|DLG2_uc010rsy.1_Missense_Mutation_p.R483Q|DLG2_uc021qof.1_Missense_Mutation_p.R555Q|DLG2_uc010rsz.1_Missense_Mutation_p.R516Q|DLG2_uc010rta.1_Missense_Mutation_p.R516Q|DLG2_uc001pak.2_Missense_Mutation_p.R621Q|DLG2_uc010rtb.1_Missense_Mutation_p.R483Q|DLG2_uc001pal.1_Missense_Mutation_p.R516Q|DLG2_uc010rsx.1_5'UTR|DLG2_uc010rsw.1_5'UTR	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	516						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATCTGCTCTCGTAGGTCATG	0.488000														21			14		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71050529	71050529	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:71050529C>T	uc001swi.2	-	12	2249	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.G367E|PTPRR_uc009zrs.3_Missense_Mutation_p.G406E|PTPRR_uc010stq.2_Missense_Mutation_p.G500E	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	612	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCCACAACTCCTTCTTCTTT	0.423000														42			24		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:20248603G>A	uc010tku.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(2)|p.P40T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000														209			47		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232663	71232663	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:71232663C>T	uc003hfg.1	+	2	438	c.357C>T	c.(355-357)ttC>ttT	p.F119F	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	119	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCATTTTTCCCTGTAAATT	0.512000														27			20		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398163	77398163	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:77398163G>A	uc002ffc.4	-	4	1313	c.894C>T	c.(892-894)ctC>ctT	p.L298L	ADAMTS18_uc010chc.1_5'Flank|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.	298	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGCCACCACGAGGGTTTCCA	0.483000														14			11		0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746708	145746708	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:145746708C>T	uc003zdk.2	+	3	1502	c.1328C>T	c.(1327-1329)cCt>cTt	p.P443L	LRRC14_uc003zdl.2_Missense_Mutation_p.P443L	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	443										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGCCGCCGCCTGCCTCTGTC	0.627000														23			20		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2163267	2163267	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:2163267G>A	uc002cos.1	-	11	3089	c.2880C>T	c.(2878-2880)ggC>ggT	p.G960G	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.G960G	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	960	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCATGTCCGAGCCGGCCTCCA	0.607000														59			31		0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382856	68382856	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:68382856G>A	uc022byl.1	-	0	226	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	PJA1_uc004dxg.3_Missense_Mutation_p.R76C|PJA1_uc004dxh.3_Missense_Mutation_p.R76C|PJA1_uc004dxi.3_Missense_Mutation_p.R21C|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	76							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CAACTACGACGAGTAGTGGAA	0.517000														49			45		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799934	67799934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:67799934G>A	uc001vik.3	-	1	3331	c.2639C>T	c.(2638-2640)tCt>tTt	p.S880F	PCDH9_uc001vil.3_Missense_Mutation_p.S880F|PCDH9_uc010thl.2_Missense_Mutation_p.S880F|PCDH9_uc001vin.3_Missense_Mutation_p.S880F	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	880					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTCAAAAGAGAGCTTTTGGG	0.453000														121			24		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30309545	30309545	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:30309545C>T	uc010jrz.3	+	8	1378	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.R326C|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.R326C|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.R326C|TRIM39-RPP21_uc010jsa.2_Missense_Mutation_p.R326C	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	238						intracellular	zinc ion binding										GTCAGAGGATCGTAAGAGCGT	0.562000														19			18		0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46085648	46085648	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:46085648C>T	uc003bgm.2	+	1	439	c.173C>T	c.(172-174)tCt>tTt	p.S58F	ATXN10_uc011aqt.2_Intron|ATXN10_uc003bgn.2_5'UTR	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	58					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		AAGAAATCTTCTCATGCTGTT	0.403000														41			21		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34083126	34083126	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:34083126G>A	uc001bxm.1	-	37	6096	c.5919C>T	c.(5917-5919)ttC>ttT	p.F1973F	CSMD2_uc001bxn.1_Silent_p.F1933F|CSMD2_uc001bxo.1_Silent_p.F846F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1933	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCACACTGGAAAGACACCA	0.587000														18			11		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400510	9400510	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:9400510C>T	uc021wam.1	+	21	2087	c.2072C>T	c.(2071-2073)tCt>tTt	p.S691F	PLCB4_uc010gbw.1_Missense_Mutation_p.S691F|PLCB4_uc010gbx.3_Missense_Mutation_p.S703F|PLCB4_uc021wal.1_Missense_Mutation_p.S691F|PLCB4_uc002wnh.3_Missense_Mutation_p.S538F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	691	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACCCCTTCTCTGAAACTCCT	0.438000														53			31		0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52096927	52096927	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:52096927C>T	uc003jos.3	+	1	1684	c.699C>T	c.(697-699)ctC>ctT	p.L233L	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	233					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ACAAACTGCTCCTGGAAAACC	0.443000														25			10		0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312345	86312345	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:86312345G>A	uc002bly.3	-	1	900	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	KLHL25_uc021stw.1_Missense_Mutation_p.L233F	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	233						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						ACGCTGCGGAGGAGCTCGGGC	0.652000														16			9		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231751	7231751	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:7231751C>T	uc010wzk.2	+	0	615	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	205										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGAGAGCATCCAGCACCTGG	0.562000														32			14		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027036	37027036	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:37027036G>A	uc004ddl.2	+	0	605	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	185										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCTGTGGGGAATTCTCCCC	0.647000														15			8		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546884	11546884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:11546884C>T	uc010shk.1	-	2	163	c.128G>A	c.(127-129)gGa>gAa	p.G43E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTGTTGCCTCCTTGTGGGGG	0.522000														114			62		0	0	1	0	0
PAGE5	90737	broad.mit.edu	37	X	55249119	55249119	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:55249119G>A	uc004duj.3	+	3	558	c.316G>A	c.(316-318)Ggt>Agt	p.G106S	PAGE5_uc004duk.3_Missense_Mutation_p.G86S	NM_130467	NP_001013453	Q96GU1	GGEE1_HUMAN	Homo sapiens P antigen family, member 5 (prostate associated) (PAGE5), transcript variant 1, mRNA.	106										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						ACCTGGAGATGGTCCTGATGT	0.413000														55			31		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009205	201009205	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:201009205C>T	uc001gvv.3	-	43	5603	c.5376G>A	c.(5374-5376)ctG>ctA	p.L1792L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1792					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCCCTCGAACCAGAGCCTGCA	0.622000														25			17		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538328	31538328	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:31538328G>A	uc010dmi.3	-	6	1409	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	NOL4_uc010xbs.2_Nonsense_Mutation_p.R86*|NOL4_uc002kxr.4_Nonsense_Mutation_p.R207*|NOL4_uc010xbt.2_Nonsense_Mutation_p.R297*|NOL4_uc010dmh.3_Nonsense_Mutation_p.R297*|NOL4_uc010xbu.2_Nonsense_Mutation_p.R371*|NOL4_uc002kxt.4_Nonsense_Mutation_p.R371*|NOL4_uc010xbv.1_Nonsense_Mutation_p.R120*	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	371						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCAGCTCCTCGGTCTACACTC	0.458000														66			33		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019941	111019941	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:111019941G>A	uc004epl.1	-	10	3441	c.2522C>T	c.(2521-2523)tCt>tTt	p.S841F		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	841					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTCTTGAGAGAAGGACCCAT	0.468000														50			31		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27880861	27880861	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:27880861C>T	uc003xgm.4	-	18	2507	c.2364G>A	c.(2362-2364)aaG>aaA	p.K788K		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	788						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GGGGGCCAGCCTTGCTGGGGG	0.532000														18			10		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817214	77817214	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:77817214C>T	uc003hki.3	-	0	1789	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	597																	CACTCATGCTCCCTGGCATCT	0.567000														23			20		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39664327	39664327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:39664327C>T	uc002okj.1	+	5	1236	c.775C>T	c.(775-777)Cct>Tct	p.P259S	PAK4_uc002okl.1_Missense_Mutation_p.P259S|PAK4_uc002okn.1_Missense_Mutation_p.P259S|PAK4_uc002okm.1_Missense_Mutation_p.P106S|PAK4_uc002oko.1_Missense_Mutation_p.P106S|PAK4_uc002okp.1_Missense_Mutation_p.P169S	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	259	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TGCCCCCAGCCCTGGAGTGCT	0.761000														4			3		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156593013	156593013	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:156593013T>C	uc003lwn.3	-	0	267	c.167A>G	c.(166-168)aAa>aGa	p.K56R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	56						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTCCCTTTTTGTTTATCTG	0.478000														34			19		0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39377005	39377005	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:39377005C>T	uc010oio.1	-	3	741	c.737G>A	c.(736-738)gGa>gAa	p.G246E	RHBDL2_uc010oin.1_Missense_Mutation_p.G166E|RHBDL2_uc001ccu.1_Missense_Mutation_p.G166E	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	166					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGCAATCACTCCTGCCAGGTA	0.453000														13			12		0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27657221	27657221	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:27657221C>T	uc001bnr.4	+	1	258	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	TMEM222_uc021ojt.1_Non-coding_Transcript|TMEM222_uc001bns.4_Non-coding_Transcript|TMEM222_uc001bnt.4_Non-coding_Transcript	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN	Homo sapiens transmembrane protein 222 (TMEM222), transcript variant 1, mRNA.	69						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GTGGTTTTTCCCCATCATCGG	0.572000														70			45		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118239074	118239074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:118239074G>A	uc004era.4	-	6	949	c.949C>T	c.(949-951)Cca>Tca	p.P317S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	317										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATAACAGGTGGGATGATGCTG	0.428000														40			41		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746424	17746424	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:17746424A>T	uc011mix.2	+	6	4536	c.4198A>T	c.(4198-4200)Aat>Tat	p.N1400Y	NHS_uc004cxx.3_Missense_Mutation_p.N1379Y|NHS_uc004cxy.3_Missense_Mutation_p.N1223Y|NHS_uc004cxz.3_Missense_Mutation_p.N1202Y|NHS_uc004cya.3_Missense_Mutation_p.N1102Y	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1379						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GACCCAAGGAAATGTGGATGA	0.393000														10			8		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184041252	184041252	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:184041252C>T	uc003fnp.3	+	14	2416	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	EIF4G1_uc003fno.2_Silent_p.I656I|EIF4G1_uc010hxw.2_Silent_p.I551I|EIF4G1_uc010hxx.3_Silent_p.I722I|EIF4G1_uc003fnt.3_Silent_p.I426I|EIF4G1_uc010hxy.3_Silent_p.I722I|EIF4G1_uc003fnq.3_Silent_p.I628I|EIF4G1_uc003fnr.3_Silent_p.I551I|EIF4G1_uc003fns.3_Silent_p.I675I|EIF4G1_uc003fnv.4_Silent_p.I716I|EIF4G1_uc003fnw.3_Silent_p.I722I|EIF4G1_uc003fnx.3_Silent_p.I520I|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	715	MIF4G.|eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACGCAAGATCATTGCCACAG	0.547000														94			51		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62130278	62130278	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:62130278G>A	uc002jdz.2	-	16	2228	c.2115C>T	c.(2113-2115)atC>atT	p.I705I		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	705	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCATGGCCTTGATCTTGCCGT	0.532000														6			12		0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37281614	37281614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:37281614C>T	uc003onn.3	+	9	1258	c.1112C>T	c.(1111-1113)cCa>cTa	p.P371L	TBC1D22B_uc010jwt.3_Non-coding_Transcript|TBC1D22B_uc003ono.1_Missense_Mutation_p.P29L|TBC1D22B_uc003onp.3_Missense_Mutation_p.P29L	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	371	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TTTGCACAACCAGGAATCCAG	0.458000														97			23		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8384476	8384477	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:8384476_8384477GG>AA	uc001apb.3	+	0	87_88	c.87_88GG>AA	c.(85-90)acgggc>acAAgc	p.G30S		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	30					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGTCACGGGCTACTCGGG	0.668000														49			37		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44109471	44109471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:44109471C>T	uc002ikc.3	-	13	3503	c.3032G>A	c.(3031-3033)cGa>cAa	p.R1011Q	KANSL1_uc002ikd.3_Missense_Mutation_p.R1011Q|KANSL1_uc010dav.3_Missense_Mutation_p.R1010Q|KANSL1_uc010wkb.2_Missense_Mutation_p.R342Q|KANSL1_uc010wkc.2_Missense_Mutation_p.R279Q	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	1011						MLL1 complex	protein binding										GGCTAAGTGTCGCGGAGTGTC	0.602000														41			19		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64520776	64520776	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:64520776G>A	uc003jtp.3	-	16	2980	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.F343F	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	722	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AATCATTGAAGAACCCTTCAA	0.512000														15			8		0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009102	88009102	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:88009102C>T	uc022bzq.1	+	0	687	c.687C>T	c.(685-687)ttC>ttT	p.F229F	CPXCR1_uc004efd.4_Silent_p.F229F|CPXCR1_uc004efc.4_Silent_p.F229F	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	229						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AATGTAGATTCCGTGCTATTG	0.378000														16			5		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162680617	162680617	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:162680617C>T	uc003iqh.3	-	5	1109	c.673G>A	c.(673-675)Gat>Aat	p.D225N	FSTL5_uc003iqi.3_Missense_Mutation_p.D224N|FSTL5_uc010iqv.3_Missense_Mutation_p.D224N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	225	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTAAAATCATCATATTTCAAT	0.333000														25			14		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27949654	27949654	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:27949654C>T	uc001boj.3	-	2	373	c.227_splice	c.e2-1	p.G76_splice	FGR_uc001bok.3_Splice_Site_p.G76_splice|FGR_uc001bol.3_Splice_Site_p.G76_splice|FGR_uc001bom.3_Splice_Site_p.G76_splice	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	76					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G76G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCACCCCAATCCCTGCAGAGT	0.572000														13			3		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43572121	43572121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:43572121C>T	uc001zrf.1	-	9	1385	c.1380G>A	c.(1378-1380)atG>atA	p.M460I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	460					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.M460I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GAGAAGCCTTCATGAAGACAG	0.587000														46			27		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220368696	220368696	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:220368696G>A	uc010puk.1	-	10	1148	c.984C>T	c.(982-984)tcC>tcT	p.S328S	RAB3GAP2_uc021pjf.1_Silent_p.S328S|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	328					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGCAACATGGGATAATAATG	0.308000														38			26		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144990869	144990870	+	Silent	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:144990869_144990870GG>AA	uc003zaf.1	-	31	13700_13701	c.13530_13531CC>TT	c.(13528-13533)gccctg>gcTTtg	p.4510_4511AL>AL	PLEC_uc003zab.1_Silent_p.4373_4374AL>AL|PLEC_uc003zac.1_Silent_p.4377_4378AL>AL|PLEC_uc003zad.2_Silent_p.4373_4374AL>AL|PLEC_uc003zae.1_Silent_p.4341_4342AL>AL|PLEC_uc003zag.1_Silent_p.4351_4352AL>AL|PLEC_uc003zah.2_Silent_p.4359_4360AL>AL|PLEC_uc003zaj.2_Silent_p.4400_4401AL>AL	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4510	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCTTCTTCAGGGCCTGGGCGG	0.663000														34			16		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619575	141619575	+	Silent	SNP	C	T	T	rs142578561	by1000genomes	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:141619575C>T	uc003vwu.1	+	0	900	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCATAGAGGCCCTTCGGGATG	0.428000														31			14		0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23729011	23729011	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:23729011C>T	uc003swo.4	+	2	452	c.363C>T	c.(361-363)ccC>ccT	p.P121P	FAM221A_uc003swq.4_Silent_p.P121P|FAM221A_uc003swr.4_Silent_p.P63P|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	121																	GTAGCCAGCCCATTCGCTGCA	0.493000														30			9		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247419471	247419471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:247419471C>T	uc010pyu.2	+	0	98	c.98C>T	c.(97-99)cCt>cTt	p.P33L		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	33					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TTTAATTTTCCTTCTAAGATG	0.333000														29			28		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155215137	155215137	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:155215137G>A	uc021xge.1	-	13	2107	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S	PLCH1_uc021xgd.1_Silent_p.S610S|PLCH1_uc021xgf.1_Silent_p.S592S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	610	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGCGGCCACGGAGTTTGTGT	0.443000														42			13		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307312	39307312	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:39307312A>T	uc021wwc.1	-	1	825	c.785T>A	c.(784-786)aTt>aAt	p.I262N	CX3CR1_uc021wwa.1_Missense_Mutation_p.I230N|CX3CR1_uc021wwb.1_Missense_Mutation_p.I230N|CX3CR1_uc003cjl.3_Missense_Mutation_p.I230N|CX3CR1_uc021wwd.1_Missense_Mutation_p.I230N	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	230					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GATCAGTTTAATGGCTTTGGC	0.443000														31			19		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117044002	117044002	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:117044002C>T	uc011mtp.2	-	5	770	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	KLHL13_uc004eqk.3_Missense_Mutation_p.E159K|KLHL13_uc004eql.3_Missense_Mutation_p.E210K|KLHL13_uc011mtn.2_Missense_Mutation_p.E50K|KLHL13_uc011mto.2_Missense_Mutation_p.E204K|KLHL13_uc011mtq.2_Missense_Mutation_p.E194K|KLHL13_uc004eqm.3_Missense_Mutation_p.E168K|KLHL13_uc022cde.1_Missense_Mutation_p.E194K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	210	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTATCCACTTCGGTTAGATTG	0.388000														40			20		0	0	1	0	0
FTSJD2	23070	broad.mit.edu	37	6	37446927	37446927	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:37446927C>T	uc003ons.3	+	22	2524	c.2271C>T	c.(2269-2271)ccC>ccT	p.P757P		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	757	Interaction with POLR2A.|WW.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						CATCAGAGCCCTGGACTATGG	0.512000														33			10		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985814	50985814	+	Missense_Mutation	SNP	G	A	A	rs150938467	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:50985814G>A	uc002lfe.2	+	23	4221	c.3605G>A	c.(3604-3606)aGc>aAc	p.S1202N	DCC_uc010dpf.2_Missense_Mutation_p.S837N	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1202					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S1202I(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAAGCAAAAGCACCTCTCAT	0.478000														37			26		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53975559	53975559	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:53975559G>A	uc001cvr.1	-	7	2067	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	500	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGGGCTCTGGAAGGGTGGGT	0.692000														4			3		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132438840	132438840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:132438840G>A	uc004exc.1	-	6	1417	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	GPC4_uc011mvg.1_Missense_Mutation_p.S332F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	402					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GCTCGGAAGGGAGGACCAGAA	0.423000														46			34		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35743124	35743124	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:35743124G>A	uc021rid.1	+	25	4768	c.4234_splice	c.e25-1	p.G1412_splice	NBEA_uc021ric.1_Intron|NBEA_uc010abi.3_Intron	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1412						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATGTCCAGGGTTCTAAGGT	0.249000														38			9		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958438	50958438	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:50958438C>T	uc002psf.2	+	18	2139	c.2088C>T	c.(2086-2088)acC>acT	p.T696T		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	696	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCACAGAGACCACCTATGAGT	0.547000														24			17		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55028623	55028623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:55028623C>T	uc001sgi.1	-	0	41	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	1					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TGGTAAATTTCATTCTTTGGG	0.512000														22			16		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72950432	72950432	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:72950432G>A	uc002jmj.4	-	13	1814	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	C17orf28_uc002jmi.3_5'UTR|C17orf28_uc010wrs.2_Silent_p.I354I	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	555						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TGCGCTTGCGGATGATGGCGT	0.677000														1			5		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428837	19428837	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:19428837C>T	uc010tcj.1	-	0		c.17273G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		cctcggcctcccaaagtgctg	0.453000														21			3		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631937	116631937	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:116631937C>G	uc003yny.3	-	2	966	c.388G>C	c.(388-390)Gct>Cct	p.A130P	TRPS1_uc011lhy.2_Missense_Mutation_p.A121P|TRPS1_uc003ynz.3_Missense_Mutation_p.A117P|TRPS1_uc010mcy.3_Missense_Mutation_p.A117P	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	117					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R130I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCCCCAGCAGCTGGAGATGAG	0.537000									Langer-Giedion syndrome					33			28		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59011961	59011961	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:59011961T>C	uc002qtc.2	-	4	1405	c.1295A>G	c.(1294-1296)tAc>tGc	p.Y432C	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	432					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGTGGAGCCGTAGACTTCCCA	0.602000														25			15		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513345	4513345	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:4513345G>A	uc002mar.1	-	2	585	c.585C>T	c.(583-585)gtC>gtT	p.V195V	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	195	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGCCCCCATGACCCCAGTAG	0.597000														66			47		0	0	1	0	0
PRAMEF14	729528	broad.mit.edu	37	1	13669144	13669144	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:13669144C>T	uc009vnw.1	-	3	1225	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	Homo sapiens PRAME family member 14 (PRAMEF14), mRNA.	348										large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAACAGGTCCTTCAGGGCA	0.542000														72			41		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32185834	32185834	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:32185834G>A	uc003obb.3	-	8	1701	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P521L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	521	EGF-like 13; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTTCAGGCAGGGAGCTGAGGC	0.622000														19			7		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586954	42586954	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:42586954C>T	uc003xpi.1	+	4	632	c.504C>T	c.(502-504)tcC>tcT	p.S168S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	168					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGAACTGCTCCATGAAGTTTG	0.478000														21			9		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450013	105450013	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:105450013C>T	uc022cca.1	+	0	588	c.588C>T	c.(586-588)ttC>ttT	p.F196F	MUM1L1_uc004emg.2_Silent_p.F196F|MUM1L1_uc004emf.2_Silent_p.F196F	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	196										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCGAGACTTTCCCTTCACTTT	0.393000														7			5		0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56374802	56374802	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:56374802C>T	uc002eit.4	+	6	1677	c.780C>T	c.(778-780)ttC>ttT	p.F260F	GNAO1_uc002eiu.4_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	260					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				ACAAATGGTTCACAGACACGT	0.483000														151			108		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515851	51515851	+	Silent	SNP	C	T	T	rs140080586		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:51515851C>T	uc010ric.2	+	0	570	c.570C>T	c.(568-570)acC>acT	p.T190T		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCACTGACACCCATATGCTGG	0.458000														42			28		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827039	143827039	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:143827039C>T	uc011kua.2	+	0	834	c.834C>T	c.(832-834)agC>agT	p.S278S		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTTTTACAGCCTTTTCAATC	0.552000														83			49		0	0	1	0	0
ARMCX4	100131755	broad.mit.edu	37	X	100699069	100699069	+	RNA	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:100699069T>G	uc004eho.2	+	2		c.214T>G								Homo sapiens armadillo repeat containing, X-linked 4 (ARMCX4), transcript variant 2, non-coding RNA.											lung(1)	1						TTCTGCTGTCTTTGGAACTTT	0.443000														21			9		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626134	48626134	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:48626134C>T	uc003ctz.2	-	18	2529	c.2528G>A	c.(2527-2529)cGa>cAa	p.R843Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	843	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCAGTCACTCGCACTGAGTA	0.612000														34			20		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34101229	34101229	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:34101229G>A	uc003oir.4	-	0	408	c.45C>T	c.(43-45)ccC>ccT	p.P15P	GRM4_uc011dsn.2_Silent_p.P15P|GRM4_uc010jvh.3_Silent_p.P15P|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Intron	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	15					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	p.P15S(1)		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)	GCAGGCAAAGGGGCAGCCGGG	0.627000														38			7		0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890536	63890536	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:63890536G>A	uc003jtj.3	+	4	464	c.464_splice	c.e4-1	p.G155_splice	RGS7BP_uc011cqu.2_Splice_Site_p.G22_splice	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	155					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCCTCCCTTAGGAAAGGAACC	0.473000														30			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179655490	179655490	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:179655490C>T	uc021vsy.1	-	10	1970	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002unb.2_Missense_Mutation_p.G582E|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	582							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)			TTCTTGAGCTCCCGGGACTGT	0.418000														17			28		0	0	1	0	0
C12orf5	57103	broad.mit.edu	37	12	4461505	4461505	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:4461505C>T	uc001qmp.3	+	5	540	c.461C>T	c.(460-462)tCc>tTc	p.S154F		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	Homo sapiens chromosome 12 open reading frame 5 (C12orf5), mRNA.	154						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GAACAGTTTTCCCAAGGATCT	0.358000														30			18		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33647708	33647708	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:33647708C>T	uc021ywr.1	+	30	4246	c.4022C>T	c.(4021-4023)tCg>tTg	p.S1341L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1341					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GATAAGGCATCGCTGGCCCAC	0.632000														27			9		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155263367	155263367	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:155263367C>T	uc001fkb.4	-	7	1170	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	PKLR_uc001fka.4_Missense_Mutation_p.M346I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	377					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCTTGGTAATCATGCTCTCCA	0.582000														18			12		0	0	1	0	0
PHF16	9767	broad.mit.edu	37	X	46918377	46918377	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:46918377G>A	uc004dgx.3	+	10	2421	c.2370G>A	c.(2368-2370)agG>agA	p.R790R	PHF16_uc004dgy.3_Silent_p.R790R	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	790					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TCAGGGTAAGGAAAGATAGCT	0.458000														13			10		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554308	140554308	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140554308G>A	uc003lit.3	+	0	2066	c.1892G>A	c.(1891-1893)aGc>aAc	p.S631N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	631	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S631S(1)		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)			AGGCTGCTGAGCGAGCGCGAC	0.687000														151			31		0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55779873	55779873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:55779873G>A	uc004dup.3	+	7	1396	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	RRAGB_uc004duq.3_Missense_Mutation_p.E221K	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Homo sapiens Ras-related GTP binding B (RRAGB), transcript variant RAGBl, mRNA.	249					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TCAGCAGCTGGAAATGAACCT	0.393000														16			10		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685814	248685814	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:248685814C>T	uc001ien.1	+	0	867	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I288I(1)		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)			ACCCCATTATCTACACTCTGA	0.443000														20			19		0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112303645	112303645	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:112303645C>T	uc001ebs.3	+	5	1217	c.860C>T	c.(859-861)cCt>cTt	p.P287L	DDX20_uc010owf.2_Missense_Mutation_p.P49L|DDX20_uc001ebt.3_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	287					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCATACCCTTTGGCACAT	0.343000														35			14		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42426860	42426860	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:42426860G>C	uc002igp.1	+	2	424	c.205G>C	c.(205-207)Gcc>Ccc	p.A69P	GRN_uc002igq.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	69			A -> T.		signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACTGCTCTGCCGGCCACTC	0.577000														43			41		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51692428	51692428	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:51692428G>A	uc002aba.3	+	6	1026	c.857G>A	c.(856-858)gGa>gAa	p.G286E	GLDN_uc002abb.3_Missense_Mutation_p.G162E	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	286					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACCTTGGTTGGAAAAGCTGAT	0.413000														22			18		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117706351	117706351	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:117706351C>T	uc004eqp.2	+	10	1164	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	DOCK11_uc004eqq.2_Silent_p.F133F	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	367					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATAAACGTTTCCTGGTGAATT	0.348000														38			29		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256780	52256780	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:52256780G>A	uc003ddb.3	-	4	2053	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L	TLR9_uc003dda.2_Silent_p.L518L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	518					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTCAGCGGCAGGAACTGGGAG	0.622000														32			11		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992636	21992636	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:21992636C>T	uc001wbe.3	-	1	1508	c.1226G>A	c.(1225-1227)cGt>cAt	p.R409H	SALL2_uc010tly.2_Missense_Mutation_p.R407H|SALL2_uc010tlz.1_Missense_Mutation_p.R272H|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.R274H|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	409							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R409H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGTGGTAAAACGGTTTCCACA	0.537000														20			16		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077024	144077024	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:144077024G>A	uc003wel.3	+	14	4787	c.4669G>A	c.(4669-4671)Gag>Aag	p.E1557K	ARHGEF5_uc003wem.3_Missense_Mutation_p.E358K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1557	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CTCAGACGGGGAGCGAGGCTG	0.567000														70			51		0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79786768	79786768	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:79786768G>A	uc003hlk.3	+	9	1291	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Silent_p.K375K	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	375						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAAGACCAAAGGCCAACTCTG	0.413000														30			25		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198678839	198678839	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:198678839G>A	uc001gur.1	+	10	1231	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	PTPRC_uc001gut.1_Missense_Mutation_p.E190K|PTPRC_uc009wzf.1_Missense_Mutation_p.E239K|PTPRC_uc021pgy.1_Missense_Mutation_p.E305K|PTPRC_uc010ppg.1_Missense_Mutation_p.E287K	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	351					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGATAATAAAGAAATTAAATT	0.254000														19			11		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110908998	110908998	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:110908998G>A	uc003hzy.4	+	16	3042	c.2590G>A	c.(2590-2592)Gat>Aat	p.D864N	EGF_uc011cfu.2_Missense_Mutation_p.D822N|EGF_uc011cfv.2_Missense_Mutation_p.D864N|EGF_uc010imk.3_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	864	EGF-like 6.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATTTGCTGGGGATGGAAAACT	0.423000														32			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106552566	106552566	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:106552566C>T	uc021ser.1	-	1994		c.36601G>A								Parts of antibodies, mostly variable regions.																		CCCCCAGACTCCACCAGCTGC	0.542000														46			9		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529312	113529312	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:113529312A>C	uc003ynu.3	-	27	4866	c.4707T>G	c.(4705-4707)atT>atG	p.I1569M	CSMD3_uc003yns.3_Missense_Mutation_p.I841M|CSMD3_uc003ynt.3_Missense_Mutation_p.I1529M|CSMD3_uc011lhx.2_Missense_Mutation_p.I1465M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1569	Sushi 8.					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						TTTCTACCTGAATGCAGGTTA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				31			17		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														21			5		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179757755	179757755	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:179757755C>T	uc003mlw.1	-	5	577	c.479G>A	c.(478-480)aGa>aAa	p.R160K		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	160	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTCAGTTTCTCTGTTGTCGAA	0.428000														22			10		0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79279631	79279631	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:79279631C>T	uc010nmg.1	+	3	560	c.426C>T	c.(424-426)atC>atT	p.I142I	TBX22_uc004edi.1_Silent_p.I22I|TBX22_uc004edj.1_Silent_p.I142I	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	142					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGTGGCCATCGATGTGGTGC	0.527000														24			21		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241946	87241946	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:87241946C>T	uc003ydq.1	-	0	659	c.561G>A	c.(559-561)aaG>aaA	p.K187K	SLC7A13_uc003ydr.1_Silent_p.K187K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	187						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CTACATTCTCCTTTTTCCCTC	0.408000														39			21		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656009	19656009	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:19656009G>A	uc002nmw.4	+	7	2758	c.2673G>A	c.(2671-2673)cgG>cgA	p.R891R	CILP2_uc002nmv.4_Silent_p.R885R	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	885						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCAGCCTGCGGGAATGCCAGG	0.677000														33			24		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459537	107459537	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:107459537G>A	uc002tdq.3	-	1	1016	c.897C>T	c.(895-897)gtC>gtT	p.V299V	ST6GAL2_uc002tdr.3_Silent_p.V299V|ST6GAL2_uc002tds.3_Silent_p.V299V	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	299					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						CTGCAGACATGACGACAGCGC	0.687000														2			3		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371221	240371221	+	Missense_Mutation	SNP	C	T	T	rs71297737		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:240371221C>T	uc010pye.2	+	5	3346	c.3121C>T	c.(3121-3123)Ccc>Tcc	p.P1041S	FMN2_uc010pyd.2_Missense_Mutation_p.P1037S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1037	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1180S(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCCCCACTTCCCGGAGCGGG	0.726000														23			12		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147733596	147733596	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:147733596G>A	uc004fcp.3	+	1	603	c.124G>A	c.(124-126)Gat>Aat	p.D42N	AFF2_uc004fco.3_Missense_Mutation_p.D42N|AFF2_uc004fcq.3_Missense_Mutation_p.D42N|AFF2_uc004fcr.3_Missense_Mutation_p.D42N|AFF2_uc011mxb.2_Missense_Mutation_p.D42N|AFF2_uc004fcs.3_Missense_Mutation_p.D42N	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	42					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGAAGACGATCTCTTTTC	0.378000														46			42		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609807	117609807	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:117609807C>T	uc003pxp.1	-	42	7091	c.6892G>A	c.(6892-6894)Gaa>Aaa	p.E2298K	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2298					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)		CCACAAGATTCAGATTCCTGG	0.468000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									9			18		0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947217	101947217	+	Splice_Site	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:101947217A>T	uc011cen.1	-	14	2045	c.1370_splice	c.e14-1	p.A457_splice	PPP3CA_uc003hvu.2_Splice_Site_p.A447_splice|PPP3CA_uc010ilj.2_Splice_Site_p.A405_splice|PPP3CA_uc003hvt.2_Splice_Site_p.A434_splice|PPP3CA_uc003hvs.2_Splice_Site_p.A390_splice|PPP3CA_uc010ilk.2_Splice_Site_p.A225_splice	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	457					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ATCCTTTGATAGCTAAACAGA	0.428000														23			8		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11997355	11997355	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:11997355G>A	uc001ila.3	-	12	3200	c.2726C>T	c.(2725-2727)tCc>tTc	p.S909F	UPF2_uc001ilb.3_Missense_Mutation_p.S909F|UPF2_uc001ilc.3_Missense_Mutation_p.S909F|UPF2_uc009xiz.2_Missense_Mutation_p.S909F	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	909	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGGGTCCAGGGAACTTGGAGA	0.418000														7			15		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39975475	39975475	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:39975475C>T	uc002hxv.2	+	4	1066	c.741C>T	c.(739-741)ccC>ccT	p.P247P	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	247	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAGTGATCCCCCCACAGGCCT	0.612000														72			19		0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153197787	153197787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:153197787G>A	uc004fjm.1	-	4	434	c.323C>T	c.(322-324)tCc>tTc	p.S108F	NAA10_uc004fjn.1_Missense_Mutation_p.S108F|NAA10_uc011mzg.1_Missense_Mutation_p.S108F	NM_003491	NP_003482	P41227	NAA10_HUMAN	Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA.	108	N-acetyltransferase.				DNA packaging|N-terminal protein amino acid acetylation|internal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GACATGCAGGGAGACATATTT	0.582000														16			12		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784547	8784547	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:8784547C>T	uc002knr.2	+	5	1579	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	SOGA2_uc002knq.2_Silent_p.L479L|SOGA2_uc010dkw.1_Silent_p.L317L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	830																	ACAGCTTCCTCCATGATGCGG	0.682000														111			57		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207518	81207518	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:81207518C>T	uc003hmd.3	+	2	736	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	167					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGAGCGTTTTCAAGAAAATAG	0.403000														60			37		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716293	23716293	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:23716293G>A	uc002dma.4	-	7	1078	c.909C>T	c.(907-909)ttC>ttT	p.F303F	ERN2_uc010bxp.3_Silent_p.F303F|ERN2_uc010bxq.1_Silent_p.F111F	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	255					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGAGGGCGAGGAAATGCAGAG	0.662000														37			20		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101015	92101015	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:92101015G>A	uc010tif.2	+	2	530	c.164_splice	c.e2-1	p.G55_splice		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	55						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTGTTCCAGGACCTGATCTT	0.413000														27			53		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55583112	55583112	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:55583112G>A	uc010qhy.1	-	34	4790	c.4395C>T	c.(4393-4395)ttC>ttT	p.F1465F	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.F1460F|PCDH15_uc021pqz.1_Silent_p.F1435F|PCDH15_uc010qhv.1_Silent_p.F1455F|PCDH15_uc010qhw.1_Silent_p.F1418F|PCDH15_uc010qhx.1_Silent_p.F1389F|PCDH15_uc010qhz.1_Silent_p.F1460F|PCDH15_uc010qia.1_Silent_p.F1438F|PCDH15_uc001jju.1_Silent_p.F1458F|PCDH15_uc010qib.1_Silent_p.F1435F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1458					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTAGAGAAGGAAAAGACTTG	0.348000										HNSCC(58;0.16)				3			10		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622851	38622851	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:38622851G>A	uc021wvo.1	-	15	2851	c.2799C>T	c.(2797-2799)ctC>ctT	p.L933L	SCN5A_uc021wvk.1_Silent_p.L933L|SCN5A_uc021wvl.1_Silent_p.L933L|SCN5A_uc021wvm.1_Silent_p.L933L|SCN5A_uc021wvn.1_Silent_p.L933L|SCN5A_uc021wvp.1_Silent_p.L933L|SCN5A_uc021wvq.1_Silent_p.L933L|SCN5A_uc021wvr.1_Silent_p.L933L|SCN5A_uc021wvs.1_Silent_p.L933L|SCN5A_uc021wvt.1_Silent_p.L933L|SCN5A_uc021wvu.1_Silent_p.L933L|SCN5A_uc021wvv.1_Silent_p.L933L|SCN5A_uc021wvj.1_Silent_p.L799L|SCN5A_uc021wvi.1_Silent_p.L799L|SCN5A_uc021wvw.1_Silent_p.L544L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	933					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)	AGGCCAGGAAGAGATTCAGGA	0.577000														3			3		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744147	140744147	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140744147T>G	uc003lju.2	+	0	250	c.250T>G	c.(250-252)Ttg>Gtg	p.L84V	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_uc011das.2_Missense_Mutation_p.L84V	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	84	Cadherin 1.				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)			AAGCGGCAGCTTGGTCACCGC	0.587000														50			36		0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789349	92789349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:92789349C>T	uc001dot.2	+	7	981	c.872C>T	c.(871-873)cCt>cTt	p.P291L	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	291						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGTGAACTTCCTTTACAGAAA	0.363000														41			21		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175772343	175772343	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:175772343C>T	uc003mds.4	+	11	2921	c.2514C>T	c.(2512-2514)gtC>gtT	p.V838V	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Silent_p.V423V|C5orf25_uc003mdv.3_Silent_p.V299V			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	838												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	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;0.000178)	Kidney(146;0.119)		AGCCTCTTGTCCCCCAACTCC	0.557000														32			16		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408375	29408375	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:29408375G>A	uc011dlp.2	+	0	660	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCGCTTAATGAACTGCAGAT	0.562000														132			57		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80655845	80655845	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:80655845G>A	uc001szd.3	+	17	1965	c.1959G>A	c.(1957-1959)gtG>gtA	p.V653V		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.									p.C653F(1)|p.V653V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCCCAGTGGTGGACCCCTGTA	0.393000														30			13		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066500	73066500	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:73066500G>A	uc004ebm.1	-	0		c.6089C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TGCTGGAAGGGAAAAGTGGGG	0.473000														25			18		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3661037	3661037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:3661037G>A	uc002fwo.4	-	8	1082	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	328	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CATTTTGGGGGAGTTGATGAC	0.587000														40			99		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688779	26688779	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:26688779G>A	uc003acb.3	+	1	698	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	SEZ6L_uc003acd.3_Missense_Mutation_p.G168R|SEZ6L_uc011akd.2_Missense_Mutation_p.G168R|SEZ6L_uc003ace.3_Missense_Mutation_p.G168R|SEZ6L_uc011akc.2_Missense_Mutation_p.G168R|SEZ6L_uc003acc.3_Missense_Mutation_p.G168R|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	168						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGCCCACCGGGGGACCCGGA	0.672000														33			26		0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694448	143694449	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:143694448_143694449GG>AA	uc022bca.1	-	0	1184_1185	c.1184_1185CC>TT	c.(1183-1185)ccc>cTT	p.P395L	ARC_uc003ywn.1_Missense_Mutation_p.P395L	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	395					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCCTCTACTCGGGCTGGGTCCG	0.708000														2			2		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103987	53103987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:53103987G>A	uc003tpz.3	+	0	639	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	208										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGGCAGGCGGAACCTGCAG	0.667000														50			34		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3425305	3425306	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:3425305_3425306GG>AA	uc003ggw.3	+	12	4075_4076	c.3171_3172GG>AA	c.(3169-3174)acggag>acAAag	p.E1058K	RGS12_uc003ggv.3_Missense_Mutation_p.E1058K|RGS12_uc003ggy.1_Missense_Mutation_p.E456K|RGS12_uc003ggz.3_Missense_Mutation_p.E410K|RGS12_uc010icu.1_Missense_Mutation_p.E257K|RGS12_uc011bvs.2_Missense_Mutation_p.E400K|RGS12_uc003gha.3_Missense_Mutation_p.E400K|RGS12_uc010icv.3_Missense_Mutation_p.E257K|RGS12_uc003ghb.2_Missense_Mutation_p.E257K	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1058	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCCGTCACGGAGGTGCTGCG	0.624000														23			11		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47425236	47425236	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:47425236G>A	uc010ekv.3	+	0	3304	c.3304G>A	c.(3304-3306)Gaa>Aaa	p.E1102K		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	1102					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.E1102Q(1)									GAATGAAGAAGAAAACATATA	0.502000														16			10		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766616	88766616	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:88766616G>A	uc021xpx.1	+	3	701	c.689G>A	c.(688-690)aGa>aAa	p.R230K	MEPE_uc021xpu.1_Missense_Mutation_p.R199K|MEPE_uc021xpv.1_Missense_Mutation_p.R86K|MEPE_uc021xpw.1_Missense_Mutation_p.R86K|MEPE_uc010ikn.3_Missense_Mutation_p.R86K|MEPE_uc003hqy.3_Missense_Mutation_p.R199K|MEPE_uc021xpy.1_Missense_Mutation_p.R86K	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	199					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGCCTCAAAGAGATTCCCAA	0.368000														28			17		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507821	1507821	+	Missense_Mutation	SNP	G	A	A	rs145974595		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:1507821G>A	uc002qwr.3	+	13	2574	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.E830K|TPO_uc002qwx.3_Missense_Mutation_p.E773K|TPO_uc002qwu.3_Missense_Mutation_p.E773K|TPO_uc010yio.2_Missense_Mutation_p.E657K|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	830	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGACCCCTACGAGTTAGGAGA	0.562000														12			20		0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55741983	55741983	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:55741983G>A	uc002qjv.3	-	21	2909	c.2826C>T	c.(2824-2826)tcC>tcT	p.S942S	TMEM86B_uc002qjt.3_5'Flank|TMEM86B_uc002qju.3_5'Flank|PPP6R1_uc002qjw.4_Silent_p.S880S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	880					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						ACACTCACTGGGAGCCTGGGG	0.657000														15			7		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080594	5080594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:5080594C>T	uc010qyw.2	-	0	264	c.264G>A	c.(262-264)tgG>tgA	p.W88*		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W88*(2)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGGTTGATCCAGAAGATTC	0.498000														12			8		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27463918	27463918	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:27463918A>T	uc003xfy.2	-	3	550	c.403T>A	c.(403-405)Ttc>Atc	p.F135I	CLU_uc003xfw.2_Missense_Mutation_p.F124I|CLU_uc003xfx.2_Missense_Mutation_p.F124I|CLU_uc003xfz.2_Missense_Mutation_p.F124I	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	124					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGTGCGTAGAACTTCATGCAG	0.577000														57			43		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732780	179732780	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:179732780G>A	uc002une.2	-	15	2665	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	CCDC141_uc002unf.1_Silent_p.V328V	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	274	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGATGATGTCGACTCCTAAGG	0.498000														9			15		0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27380580	27380580	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:27380580C>T	uc002hdr.1	+	3	953	c.627C>T	c.(625-627)ctC>ctT	p.L209L		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	209					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	p.Q208H(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CCAACCAGCTCCTCCGTCCCC	0.547000														41			18		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073159	31073159	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:31073159A>T	uc021tgt.1	-	3	1515	c.1159T>A	c.(1159-1161)Ttc>Atc	p.F387I	ZNF668_uc010cag.2_Missense_Mutation_p.F364I|ZNF668_uc010caf.3_Missense_Mutation_p.F364I|ZNF668_uc002eao.3_Missense_Mutation_p.F364I	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCACAGCGGAAGGGCCGCTGG	0.672000														70			49		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712649	140712649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140712649G>A	uc003lji.2	+	0	2398	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D800N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	810					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)			TTTACTTGAAGACAAAAAGGA	0.413000														29			26		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17084250	17084250	+	Splice_Site	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:17084250T>A	uc010ock.2	-	13	1768	c.1768_splice	c.e13+1	p.G590_splice	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Splice_Site_p.G190_splice					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGCTCTTACCTTTGGTCTCAC	0.602000														256			28		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923097	43923097	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:43923097C>T	uc010wka.2	+	0	842	c.825C>T	c.(823-825)gaC>gaT	p.D275D	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	275						integral to membrane	aspartic-type endopeptidase activity										TCTTCTATGACCACTTTGTCT	0.572000														90			36		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388641	80388641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:80388641C>T	uc003kha.2	+	9	1462	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	471	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.S471F(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAAGTACCTTCCGTTGAGAGG	0.373000														37			18		0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121020	18121020	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:18121020C>T	uc002nhv.3	+	5	1008	c.865C>T	c.(865-867)Cca>Tca	p.P289S	ARRDC2_uc002nhu.3_Missense_Mutation_p.P284S	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	289										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGTGGATATCCCAGGAACGTC	0.637000														33			25		0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373342	62373342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:62373342C>T	uc002ygq.3	+	3	567	c.512C>T	c.(511-513)cCg>cTg	p.P171L	SLC2A4RG_uc002ygr.3_Missense_Mutation_p.P66L|SLC2A4RG_uc011abj.2_Missense_Mutation_p.P66L|SLC2A4RG_uc002ygs.3_Intron	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	171						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCGTCCACCCCGTCACCCCCA	0.682000														25			11		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518223	8518223	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:8518223C>T	uc003zkk.3	-	20	1911	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	PTPRD_uc003zkp.3_Missense_Mutation_p.E390K|PTPRD_uc003zkq.3_Missense_Mutation_p.E390K|PTPRD_uc003zkr.3_Missense_Mutation_p.E384K|PTPRD_uc003zks.3_Missense_Mutation_p.E380K|PTPRD_uc022bdj.1_Missense_Mutation_p.E387K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	390	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACCCTGAATTCATAATCCGAG	0.507000										TSP Lung(15;0.13)				56			34		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2163265	2163265	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:2163265G>T	uc002cos.1	-	11	3091	c.2882C>A	c.(2881-2883)tCg>tAg	p.S961*	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Nonsense_Mutation_p.S961*	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	961	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACCATGTCCGAGCCGGCCTC	0.607000														56			30		2.87052e-16	2.92191e-16	1	1	0
C12orf56	115749	broad.mit.edu	37	12	64668686	64668686	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:64668686G>A	uc021qzu.1	-	10	1579	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.P367S|C12orf56_uc001srz.3_Missense_Mutation_p.P9S|C12orf56_uc001sry.3_Missense_Mutation_p.P109S	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	530										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTTACGATGGGAGGACAGCTT	0.368000														22			25		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196927044	196927045	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:196927044_196927045CC>TT	uc001gtq.1	+	3	531_532	c.454_455CC>TT	c.(454-456)cct>TTt	p.P152F	CFHR2_uc001gtr.1_Missense_Mutation_p.P28F	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	152	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						ATGTGGGCCCCCTCCACCTATT	0.386000														36			16		0	0	1	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73933975	73933975	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:73933975G>A	uc003pgm.4	-	1	253	c.209C>T	c.(208-210)aCt>aTt	p.T70I	KHDC1_uc011dyl.1_Non-coding_Transcript	NM_001126063	NP_001119535	Q5JSQ8	KHDCL_HUMAN	Homo sapiens KH homology domain containing 1-like (KHDC1L), mRNA.	70										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						TCCGACTACAGTCACACGTGT	0.552000														1			4		0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48604768	48604768	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:48604768C>T	uc010xdp.2	+	11	2128	c.1590C>T	c.(1588-1590)caC>caT	p.H530H	SMAD4_uc002lfb.4_Silent_p.H375H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	530	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.L529fs*7(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTCACTTACACCGGGCCCTCC	0.483000														30			8		0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51641707	51641707	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:51641707G>A	uc004dpn.3	+	10	2170	c.1980G>A	c.(1978-1980)agG>agA	p.R660R	MAGED1_uc004dpm.3_Silent_p.R604R|MAGED1_uc004dpo.3_Silent_p.R604R	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	604	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GAGATCTAAGGAAACTTCTCA	0.448000										Multiple Myeloma(10;0.10)				10			6		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024367	6024367	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:6024367C>T	uc010qzv.2	-	0	12	c.12G>A	c.(10-12)gtG>gtA	p.V4V		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTTTAAAATCACTGTCATCA	0.333000														31			19		0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102799292	102799292	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:102799292C>T	uc010qpx.2	+	10	1100	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	SFXN3_uc001ksp.3_Missense_Mutation_p.H310Y	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	Homo sapiens sideroflexin 3 (SFXN3), mRNA.	310					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGCTCAGATCCATGAGCAAAA	0.537000														16			38		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373193	373193	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:373193G>A	uc001lpb.3	+	5	547	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	180						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGACTAGGAGACGTCCAGTT	0.642000														18			10		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760068	133760068	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:133760068C>T	uc004bzw.3	+	10	2394	c.2391C>T	c.(2389-2391)gtC>gtT	p.V797V	ABL1_uc004bzv.3_Silent_p.V816V	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	797	Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTGATGAGGTCTTCAAAGACA	0.637000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									2			4		0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31239361	31239361	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:31239361G>T	uc001zfh.1	-	13	1618	c.1520C>A	c.(1519-1521)tCc>tAc	p.S507Y	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.S88Y|MTMR10_uc010azx.1_Missense_Mutation_p.S259Y|MTMR10_uc001zfi.1_Missense_Mutation_p.S259Y|MTMR10_uc001zfj.3_Missense_Mutation_p.S425Y	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	Homo sapiens myotubularin related protein 10 (MTMR10), mRNA.	507	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CTGGTGAGGGGAGTTGAACAG	0.468000														66			26		1.7881e-09	1.80784e-09	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107417842	107417843	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:107417842_107417843CC>TA	uc004enw.4	-	30	3071_3072	c.2968_2969GG>TA	c.(2968-2970)gga>TAa	p.G990*	COL4A6_uc004env.4_Nonsense_Mutation_p.G989*|COL4A6_uc011msn.2_Nonsense_Mutation_p.G989*|COL4A6_uc010npk.3_Nonsense_Mutation_p.G989*	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	990	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G989E(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCAGCCTCTCCTTTGTCACCT	0.545000									Alport syndrome with Diffuse Leiomyomatosis					23			6		0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43025923	43025923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:43025923G>A	uc003ots.1	-	1	268	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_Missense_Mutation_p.P49S|MRPL2_uc010jyi.3_Missense_Mutation_p.P84L|MRPL2_uc003ott.4_Missense_Mutation_p.P49S|KLC4_uc003otu.3_5'Flank|KLC4_uc003otv.1_5'Flank|KLC4_uc011dvd.1_5'Flank|KLC4_uc003otw.1_5'Flank|KLC4_uc003otx.1_5'Flank|KLC4_uc003oty.1_5'Flank|KLC4_uc003otz.1_5'Flank	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	49					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGGCGGCAGGGGAGCAACATC	0.468000														66			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063547	9063547	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9063547T>C	uc002mkp.3	-	2	24103	c.23899A>G	c.(23899-23901)Aaa>Gaa	p.K7967E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7969	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E7966K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCTAGTTTTTTCCAGAAGG	0.468000														19			13		0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202396218	202396218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:202396218G>A	uc001gya.2	+	4	902	c.752G>A	c.(751-753)tGg>tAg	p.W251*	PPP1R12B_uc001gxy.3_Nonsense_Mutation_p.W251*|PPP1R12B_uc009xae.2_Nonsense_Mutation_p.W251*|PPP1R12B_uc009xad.2_Nonsense_Mutation_p.W57*	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	251					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TATGATGGCTGGACTCCCCTC	0.413000														35			19		0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11725687	11725687	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:11725687C>T	uc002msk.2	+	2	384	c.176C>T	c.(175-177)cCc>cTc	p.P59L		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTCAAAATTCCCAGGAGAAAT	0.289000														10			3		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596840	142596840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:142596840G>A	uc004fbw.3	-	1	318	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	77								p.S77F(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATTGATGGAGTTCTCTTG	0.393000														55			30		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285607	48285607	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:48285607C>T	uc010rht.2	+	0	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCTACTTATCCTTTGTGGAGA	0.488000														31			15		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169571592	169571592	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:169571592G>A	uc002uec.1	+	6	815	c.691G>A	c.(691-693)Gga>Aga	p.G231R	CERS6_uc002ueb.1_Missense_Mutation_p.G231R	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	231	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGCCCGAGTAGGAACGCTGGT	0.378000														12			32		0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27071098	27071098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:27071098G>A	uc002ylp.1	+	4	1049	c.504G>A	c.(502-504)tgG>tgA	p.W168*	JAM2_uc011ace.1_Nonsense_Mutation_p.W168*|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Nonsense_Mutation_p.W132*	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	168	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						AATACACATGGTTTAAGGATG	0.453000														17			17		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118362005	118362005	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:118362005C>T	uc001pta.3	+	13	4814	c.4791C>T	c.(4789-4791)tcC>tcT	p.S1597S	MLL_uc001ptb.3_Silent_p.S1597S|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1597					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GGGTCCATTCCAAATGTGAGA	0.378000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									46			23		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197480064	197480064	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:197480064G>A	uc021pgu.1	-	22	2192	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CACCACAGAGGAAAGCCAGGT	0.413000														14			12		0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110567014	110567014	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:110567014C>T	uc003ynf.3	+	3	454	c.219C>T	c.(217-219)atC>atT	p.I73I	EBAG9_uc010mcn.1_Non-coding_Transcript|EBAG9_uc003yng.3_Silent_p.I73I	NM_198120	NP_936056	O00559	RCAS1_HUMAN	Homo sapiens estrogen receptor binding site associated, antigen, 9 (EBAG9), transcript variant 2, mRNA.	73					apoptosis|regulation of cell growth	Golgi membrane|focal adhesion|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GTGTAAAGATCGAAGGAGGGA	0.408000														21			19		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528531	57528531	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:57528531G>A	uc011kdi.1	+	3	476	c.364G>A	c.(364-366)Gat>Aat	p.D122N		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGGACAGGAGGATTTACAAGT	0.378000														19			11		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510938	48510938	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:48510938G>A	uc010rhx.2	+	0	594	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTTAGTGGTGGCCAATGGAG	0.448000														58			56		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39911445	39911445	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:39911445C>T	uc010xuz.2	+	12	1677	c.1352C>T	c.(1351-1353)cCt>cTt	p.P451L	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P392L|PLEKHG2_uc002olj.3_Missense_Mutation_p.P451L|PLEKHG2_uc010xva.2_Missense_Mutation_p.P258L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	451					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTTGGGTCTCCTCGACCTCGA	0.567000														64			34		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110036356	110036356	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:110036356T>C	uc010rwc.2	+	5	2549	c.2549T>C	c.(2548-2550)tTc>tCc	p.F850S	ZC3H12C_uc009yxw.3_Missense_Mutation_p.F849S|ZC3H12C_uc010rwd.2_Missense_Mutation_p.F850S|ZC3H12C_uc001pkr.4_Missense_Mutation_p.F818S	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	849							endonuclease activity|nucleic acid binding|zinc ion binding	p.F849F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGCAACATCTTCCCCCCTGAC	0.512000														2			3		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222301232	222301232	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:222301232G>A	uc002vmq.3	-	12	2275	c.2233C>T	c.(2233-2235)Cgt>Tgt	p.R745C	EPHA4_uc002vmr.2_Missense_Mutation_p.R745C|EPHA4_uc010zlm.1_Missense_Mutation_p.R686C	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	745	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCCAGATCACGATGCACATAG	0.493000														11			25		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149762847	149762847	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:149762847G>A	uc001esp.4	+	5	949	c.899G>A	c.(898-900)gGa>gAa	p.G300E	HIST2H2BF_uc010pbj.2_Intron	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	300					interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGGCAGTGGGAATAATGTTT	0.383000														29			10		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41684366	41684366	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:41684366G>A	uc003gvz.4	+	25	4151	c.3734G>A	c.(3733-3735)gGa>gAa	p.G1245E	LIMCH1_uc003gwe.4_Missense_Mutation_p.G784E|LIMCH1_uc003gvu.4_Missense_Mutation_p.G861E|LIMCH1_uc003gvv.4_Missense_Mutation_p.G861E|LIMCH1_uc003gvw.4_Missense_Mutation_p.G860E|LIMCH1_uc003gvx.4_Missense_Mutation_p.G873E|LIMCH1_uc003gvy.4_Missense_Mutation_p.G689E|LIMCH1_uc003gwa.4_Missense_Mutation_p.G701E|LIMCH1_uc011byu.2_Missense_Mutation_p.G694E|LIMCH1_uc003gwc.4_Missense_Mutation_p.G706E|LIMCH1_uc003gwd.4_Missense_Mutation_p.G694E|LIMCH1_uc011byv.2_Missense_Mutation_p.G611E|LIMCH1_uc011byw.2_Missense_Mutation_p.G160E	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	861					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATAGACCTGGGAAACTGTCAA	0.363000														15			3		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356532	10356532	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:10356532C>T	uc002gmn.3	-	23	3159	c.3048G>A	c.(3046-3048)atG>atA	p.M1016I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1016					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.M1016V(1)|p.M1016T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTCCTCCTCCATCTGCAGGT	0.493000														30			73		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039582	2039582	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:2039582C>T	uc003zhc.3	+	3	571	c.472C>T	c.(472-474)Cca>Tca	p.P158S	SMARCA2_uc003zhd.3_Missense_Mutation_p.P158S|SMARCA2_uc010mha.3_Missense_Mutation_p.P149S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	158					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGCCCTCATCCCAGGTGATCC	0.582000														54			21		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899864	151899864	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:151899864C>T	uc022chj.1	-	0	937	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.E313K|MAGEA12_uc022chi.1_Missense_Mutation_p.E313K|MAGEA12_uc004fgc.3_Missense_Mutation_p.E313K	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	313										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTCTTCCCCCTCTCTA	0.552000														78			26		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64880766	64880766	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:64880766C>T	uc010wqi.2	+	4	795	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CACNG5_uc010wqj.2_Silent_p.F186F|CACNG5_uc021uby.1_Non-coding_Transcript	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	186					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)			CCATCTCCTTCCTTTTAACGG	0.562000														41			29		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845337	107845337	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:107845337C>T	uc003hyi.3	-	3	1259	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	185	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTCTGATGATCGTAGGCAGGG	0.453000														11			10		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157559020	157559020	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:157559020T>C	uc001fqw.3	-	2	417	c.281A>G	c.(280-282)aAc>aGc	p.N94S	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	94	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCGCACAGGGTTACTTCGTGG	0.498000														28			17		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692216	20692216	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:20692216C>T	uc010tlc.2	+	0	348	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGTTGCTTCCTGCAATTCT	0.408000														52			32		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64569175	64569175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:64569175C>T	uc003jtp.3	-	11	2426	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.E159K	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	538	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ACCCCTTTTTCAATATTCCCA	0.418000														56			37		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12364662	12364662	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:12364662T>C	uc001atv.3	+	25	6457	c.6316T>C	c.(6316-6318)Ttc>Ctc	p.F2106L	VPS13D_uc001atw.3_Missense_Mutation_p.F2106L|VPS13D_uc001atx.3_Missense_Mutation_p.F1294L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2106					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAGGGGCAGTTCACGATGCC	0.567000														22			20		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99537975	99537975	+	Silent	SNP	G	A	A	rs62637599		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:99537975G>A	uc001vnt.2	-	19	2305	c.2250C>T	c.(2248-2250)gtC>gtT	p.V750V	DOCK9_uc001vnw.2_Silent_p.V749V|DOCK9_uc021rlw.1_Silent_p.V749V|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.V750V|DOCK9_uc010tis.1_Silent_p.V749V|DOCK9_uc010tit.1_Silent_p.V750V|DOCK9_uc010afu.1_Silent_p.V565V	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	750	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGTTTCAACGACATCCCTCT	0.403000														21			36		0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122809	41122809	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:41122809C>T	uc003xnt.3	-	2	1134	c.822G>A	c.(820-822)aaG>aaA	p.K274K		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	274	NTR.				DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GGCTCTTCACCTTGCGGCCCA	0.507000														34			26		0	0	1	0	0
PRKX	5613	broad.mit.edu	37	X	3592716	3592716	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:3592716G>A	uc010nde.3	-	1	639	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	86	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCTTTAGGCGGATGACGTCGG	0.567000														42			25		0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154736692	154736692	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:154736692C>T	uc004fnn.3	-	5	1033	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	TMLHE_uc004fnp.4_Missense_Mutation_p.E288K	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	Homo sapiens trimethyllysine hydroxylase, epsilon (TMLHE), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	288					carnitine biosynthetic process	mitochondrial matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTCAAATTCCTCAGGTGCC	0.408000														63			39		0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593658	156593658	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:156593658C>T	uc001fpn.1	+	3	552	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	HAPLN2_uc010phq.1_Missense_Mutation_p.R49C	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA.	49	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCACTCTCATCGTGGGGCCAC	0.687000														8			5		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696570	48696570	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:48696570G>A	uc003cuf.1	-	2	3708	c.3708C>T	c.(3706-3708)agC>agT	p.S1236S	CELSR3_uc003cul.3_Silent_p.S1166S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1166	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGAGCACAGGGCTGTTGTCAT	0.542000														40			16		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13612411	13612411	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:13612411G>A	uc011avc.2	+	1	938	c.556G>A	c.(556-558)Gag>Aag	p.E186K	FBLN2_uc011auz.2_Missense_Mutation_p.E212K|FBLN2_uc011avb.2_Missense_Mutation_p.E186K|FBLN2_uc011ava.2_Missense_Mutation_p.E186K	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	186	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGATGCCGAGGAGGGTGACCC	0.672000														16			6		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037700	75037700	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:75037700C>T	uc001dgg.3	-	13	3913	c.3694G>A	c.(3694-3696)Ggg>Agg	p.G1232R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1232	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGGATCAGCCCCTCAGGGGCC	0.632000														40			36		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716281	52716281	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:52716281C>T	uc002pyp.3	+	5	1020	c.725C>T	c.(724-726)gCc>gTc	p.A242V	PPP2R1A_uc010ydk.2_Missense_Mutation_p.A187V|PPP2R1A_uc010epm.1_Missense_Mutation_p.A282V|PPP2R1A_uc002pyq.3_Missense_Mutation_p.A63V	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	242	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATCTGGAGGCCCTGGTGATG	0.637000			Mis		clear cell ovarian carcinoma									30			12		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101970947	101970947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:101970947G>A	uc022cbh.1	+	0	1150	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.E384K|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.E384K|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.E384K|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.E384K|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.E384K|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.E384K|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.E384K	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	384						cytoplasm	protein binding										GTTTGAGGAGGAAGTCATTAT	0.502000														36			17		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203839	5203839	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:5203839G>A	uc009xhz.2	-	2		c.441C>T								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AATGGTACATGAATAATGAAG	0.413000														11			10		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242079977	242079977	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:242079977G>A	uc002wao.2	-	2	521	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PASK_uc010zol.2_Intron|PASK_uc010zom.2_Missense_Mutation_p.P130S|PASK_uc010fzl.2_Missense_Mutation_p.P130S|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Missense_Mutation_p.P130S|PASK_uc002waq.3_Missense_Mutation_p.P130S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	130	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCTTGTTAGGGTTGCACACA	0.572000														4			10		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823753	38823753	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:38823753C>T	uc003avs.1	-	1	482	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	KCNJ4_uc003avt.1_Missense_Mutation_p.V129M|KCNJ4_uc021wpp.1_Missense_Mutation_p.V129M	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	129					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGCGTCTCCACCGAGAACAGG	0.692000														75			33		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865903	144865903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:144865903C>T	uc021ouh.1	-	34	5979	c.5677G>A	c.(5677-5679)Ggc>Agc	p.G1893S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.G1893S|PDE4DIP_uc001elx.4_Missense_Mutation_p.G1787S|PDE4DIP_uc001elv.4_Missense_Mutation_p.G900S|PDE4DIP_uc001ema.3_Missense_Mutation_p.G80S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1893					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACTCCAGGCCCTGACTGTAG	0.453000			T	PDGFRB	MPD									175			35		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212479	81212479	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:81212479C>T	uc002bfw.1	+	13	2102	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	KIAA1199_uc010unn.1_Silent_p.F614F	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	614										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTGCTTCTTCACGGAAGATG	0.532000														24			12		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688902	55688902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:55688902C>T	uc010sph.2	-	0	115	c.115G>A	c.(115-117)Ggg>Agg	p.G39R		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTAAGTTCCCCATCAGGCTC	0.413000														22			13		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304174	6304174	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:6304174C>T	uc003giy.3	+	7	2818	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	WFS1_uc003gix.3_Silent_p.F884F|WFS1_uc003giz.3_Silent_p.F702F	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	884	Poly-Phe.				ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCTTTTTCTTCCCATTCCTGT	0.632000														27			13		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76557804	76557804	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:76557804C>T	uc010dhp.2	-	11	1953	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	DNAH17_uc002jvv.2_Missense_Mutation_p.E312K	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACGGGTGTTCGACGTGCTTC	0.647000														10			8		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186111	153186111	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:153186111G>A	uc004fjk.2	-	4	708	c.650C>T	c.(649-651)tCc>tTc	p.S217F	ARHGAP4_uc011mzf.2_Missense_Mutation_p.S194F|ARHGAP4_uc004fjl.2_Missense_Mutation_p.S217F|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	217					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTTGAGGGAGCTCTTGCG	0.682000														17			15		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54329613	54329613	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:54329613G>A	uc003jpl.1	+	4	698	c.654G>A	c.(652-654)ttG>ttA	p.L218L		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	218	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGGGCCCCTTGATCTGTAAAG	0.458000														26			9		0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128922472	128922472	+	Silent	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:128922472G>C	uc004euu.3	+	2	401	c.219G>C	c.(217-219)ggG>ggC	p.G73G	SASH3_uc011muo.1_5'UTR	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	73										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AAAAGCTGGGGAAGAAGTGGA	0.532000														23			13		0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134483138	134483138	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:134483138C>T	uc004eys.3	+	2	623	c.458C>T	c.(457-459)cCt>cTt	p.P153L	ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.3_Missense_Mutation_p.P33L	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	153					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTAATGGGACCTGCCCAGGAG	0.562000														71			52		0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45710813	45710813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:45710813C>T	uc001zve.3	+	6	2136	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	676						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CCTGATGTCTCCTTAGAAAAC	0.343000														24			18		0	0	1	0	0
C3orf39	84892	broad.mit.edu	37	3	43121553	43121553	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:43121553G>A	uc003cmr.1	-	1	1714	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L	C3orf39_uc003cmq.1_Silent_p.L457L|C3orf39_uc021wwn.1_Silent_p.L457L	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	457						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		TGGTTTGAATGAGGGACGGGA	0.617000														26			15		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50248635	50248635	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:50248635C>T	uc002ppm.3	-	6	1022	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	337							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACCGGGCGGTCAGTGAGGACA	0.687000														10			3		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7586934	7586934	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:7586934C>T	uc001mfj.4	+	2	603	c.215C>T	c.(214-216)gCc>gTc	p.A72V		NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	72					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAGAGAGCAGCCCTCCTGAGC	0.587000														53			25		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2591196	2591196	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:2591196G>A	uc002wgf.1	+	11	1560	c.1545G>A	c.(1543-1545)ggG>ggA	p.G515G	TMC2_uc002wgg.1_Silent_p.G499G|TMC2_uc010zpw.1_Silent_p.G347G|TMC2_uc010zpx.1_Silent_p.G346G	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	515						integral to membrane		p.L514L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTTCCTGGGGAACCTCTACA	0.537000														21			15		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16012615	16012615	+	Missense_Mutation	SNP	G	A	A	rs73665227	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:16012615G>A	uc010lsu.3	-	5	974	c.910C>T	c.(910-912)Ccc>Tcc	p.P304S	MSR1_uc003wwz.3_Missense_Mutation_p.P286S|MSR1_uc003wxa.3_Missense_Mutation_p.P286S|MSR1_uc003wxb.3_Missense_Mutation_p.P286S|MSR1_uc011kxz.2_Missense_Mutation_p.P60S	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	286	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCTCCAGTGGGACCTCGATCT	0.403000														13			10		0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230003	60230003	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:60230003G>A	uc009yna.3	+	1	483	c.156G>A	c.(154-156)ttG>ttA	p.L52L	MS4A1_uc009ymy.1_Silent_p.L52L|MS4A1_uc009ymz.3_Silent_p.L52L|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Silent_p.L52L|MS4A1_uc001npq.3_Silent_p.L52L	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	52					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CTAAGACTTTGGGGGTAAGTC	0.488000														20			13		0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836052	4836052	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:4836052C>T	uc021tnz.1	+	1	228	c.153C>T	c.(151-153)atC>atT	p.I51I	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Silent_p.I51I	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	51										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						ACACAACCATCCTCCACCTGA	0.552000														25			39		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085669	35085669	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:35085669G>A	uc001ziu.1	-	2	474	c.231C>T	c.(229-231)atC>atT	p.I77I	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	77					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGTTGGTGATGATACCATGCT	0.562000														44			19		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35865053	35865053	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:35865053C>T	uc002xgp.3	+	15	2128	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	RPN2_uc002xgq.3_Silent_p.I576I	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	608					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACCTGGCCATCCTGGGCAGTG	0.522000														19			20		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298273	184298273	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:184298273G>A	uc003foz.3	+	11	2693	c.2256G>A	c.(2254-2256)atG>atA	p.M752I		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	752	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGTCCGAGATGAACTATGTGC	0.577000														60			38		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227656	75227656	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:75227656G>A	uc003yae.3	-	1	619	c.579C>T	c.(577-579)ttC>ttT	p.F193F	JPH1_uc003yaf.3_Silent_p.F193F|JPH1_uc003yag.1_Silent_p.F57F	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	193					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G192A(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGTTGAGCACGAAACCGCCGC	0.677000														29			11		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722076	141722076	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:141722076C>T	uc003vwy.3	+	6	773	c.719C>T	c.(718-720)tCg>tTg	p.S240L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	240	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGTTTGACTCGAGCATTGGG	0.522000														25			25		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958666	78958666	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:78958666G>A	uc001din.3	+	1	504	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	PTGFR_uc001dim.3_Missense_Mutation_p.G80S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	80					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TGATTTCTTTGGCCATCTCAT	0.418000														39			18		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458105	248458105	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:248458105C>T	uc010pzj.2	-	0	776	c.776G>A	c.(775-777)aGa>aAa	p.R259K		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M258L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGATTTGGGTCTCATATAGGT	0.483000														53			24		0	0	1	0	0
C8orf22	492307	broad.mit.edu	37	8	49986633	49986633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:49986633C>T	uc003xqq.4	+	2	254	c.71C>T	c.(70-72)tCa>tTa	p.S24L		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	Homo sapiens chromosome 8 open reading frame 22 (C8orf22), mRNA.	24										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGTGTTTCTTCAGTTAGTTCT	0.333000														20			10		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236143953	236143954	+	Splice_Site	DNP	CC	TT	TT	rs142491705	by1000genomes	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:236143953_236143954CC>TT	uc001hxo.3	-	17	3330	c.3228_splice	c.e17-1	p.G1076_splice	NID1_uc009xgd.3_Splice_Site_p.G943_splice|NID1_uc009xgc.3_Splice_Site_p.G157_splice	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	1076					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGTAAAGGTTCCTGGAGGAGGA	0.431000														12			4		0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249787	3249787	+	Silent	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:3249787G>C	uc021qcj.1	-	0	240	c.240C>G	c.(238-240)gtC>gtG	p.V80V	MRGPRE_uc001lxq.4_Silent_p.V80V	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	80						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAAGTCGGGGACGATGGCCA	0.617000														42			35		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094251	143094251	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:143094251C>T	uc003qjd.3	-	4	2368	c.1625G>A	c.(1624-1626)aGa>aAa	p.R542K		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAGTTGCTTCTAATAAGGGG	0.438000														10			20		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740641	141740641	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:141740641G>A	uc003vwy.3	+	20	2547	c.2493G>A	c.(2491-2493)ctG>ctA	p.L831L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	831	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAACCACTCTGGCCAGGTATA	0.473000														23			12		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91699371	91699371	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:91699371G>A	uc003ulg.3	+	26	6583	c.6358G>A	c.(6358-6360)Gaa>Aaa	p.E2120K	AKAP9_uc003ulf.3_Missense_Mutation_p.E2120K|AKAP9_uc003uli.3_Missense_Mutation_p.E1743K|AKAP9_uc003ulj.3_5'UTR	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2132	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCATCTGAAAGAAAAAACAGA	0.328000			T	BRAF	papillary thyroid									48			28		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626229	12626229	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:12626229G>A	uc002gno.2	+	4	618	c.319G>A	c.(319-321)Gat>Aat	p.D107N	MYOCD_uc002gnn.2_Missense_Mutation_p.D107N|MYOCD_uc002gnp.1_Missense_Mutation_p.D11N	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	107					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTCGCCGATGATCTCAATGA	0.458000														23			52		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569951	179569951	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:179569951G>A	uc021vsy.1	-	99	26047	c.25822C>T	c.(25822-25824)Caa>Taa	p.Q8608*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q5269*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9535							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)			TCAAATGCTTGAAGAAGACCT	0.363000														13			21		0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119177008	119177008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:119177008G>A	uc003eck.1	-	2	556	c.193C>T	c.(193-195)Cct>Tct	p.P65S	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	65						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GGCAAGTCAGGAATTTGGCAA	0.423000														16			14		0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42850638	42850638	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:42850638G>A	uc002ihh.3	+	10	835	c.835G>A	c.(835-837)Gag>Aag	p.E279K	ADAM11_uc010wjd.2_Missense_Mutation_p.E79K	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	279	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GATATACAAGGAGCAGCTCAA	0.612000														48			36		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185153439	185153439	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:185153439C>T	uc001grg.4	+	7	1317	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	SWT1_uc001grh.4_Silent_p.L401L	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	401	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGAATCATCTCAAATTTGTTA	0.269000														13			7		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32134659	32134659	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:32134659C>T	uc001rks.3	+	3	1184	c.770C>T	c.(769-771)cCa>cTa	p.P257L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	257										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TTAACTTTACCATCAAGGCAG	0.393000														36			20		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361691	107361691	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:107361691C>T	uc011lvp.2	-	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTTTCCCATTCCATTTTACTC	0.363000														7			16		0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64897788	64897788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:64897788G>A	uc001odb.3	-	11	1263	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	SYVN1_uc001odc.3_Missense_Mutation_p.P390L|SYVN1_uc009yqc.3_Missense_Mutation_p.P339L	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	390	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGGTGGAAAGGGGCCCATGGG	0.642000														5			4		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55145110	55145110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:55145110C>T	uc002qgj.3	+	8	1623	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	LILRB1_uc010erp.1_Missense_Mutation_p.S43F|LILRB1_uc002qgl.3_Missense_Mutation_p.S428F|LILRB1_uc002qgk.3_Missense_Mutation_p.S428F|LILRB1_uc002qgm.3_Missense_Mutation_p.S428F|LILRB1_uc010erq.3_Intron|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	428					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCCCAGCTCCCCGACAACA	0.602000										HNSCC(37;0.09)				13			4		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109740464	109740464	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:109740464C>T	uc021xqo.1	-	34	1923	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	COL25A1_uc003hze.1_Missense_Mutation_p.E623K|COL25A1_uc003hzd.3_Intron	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	623	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G622R(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCCCTTTTTCCCCCTTAACG	0.463000														23			11		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42426862	42426862	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:42426862C>T	uc002igp.1	+	2	426	c.207C>T	c.(205-207)gcC>gcT	p.A69A	GRN_uc002igq.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	69			A -> T.		signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACTGCTCTGCCGGCCACTCCT	0.572000														42			41		0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12749949	12749949	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:12749949C>T	uc003nah.2	+	3	550	c.177C>T	c.(175-177)ccC>ccT	p.P59P	PHACTR1_uc011dir.2_Silent_p.P59P|PHACTR1_uc010jpc.3_Silent_p.P59P|PHACTR1_uc003nag.2_Silent_p.P59P|PHACTR1_uc003nai.3_Silent_p.P59P	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	59						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ACCGGCGGCCCATCCGGAGAG	0.662000														34			15		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295725	20295725	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:20295725C>T	uc010tkv.2	+	0	118	c.118C>T	c.(118-120)Cct>Tct	p.P40S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCATCCTCCCTGGAAATTT	0.438000														246			50		0	0	1	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881266	1881266	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:1881266G>A	uc002luf.3	-	1	706	c.300C>T	c.(298-300)tcC>tcT	p.S100S	FAM108A1_uc002lud.3_Silent_p.S100S|FAM108A1_uc002lue.3_Silent_p.S100S|FAM108A1_uc002lug.3_Silent_p.S100S	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	95						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATACATGCAGGAGACGCGGT	0.667000														33			12		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369155	158369155	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:158369155G>A	uc010pih.2	-	0	102	c.102C>T	c.(100-102)ctC>ctT	p.L34L		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TCAAGTATAGGAGAAGAAAGA	0.488000														9			12		0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33353427	33353427	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:33353427G>A	uc010cti.1	-	1	388	c.164C>T	c.(163-165)tCc>tTc	p.S55F	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.S49F|RFFL_uc002hin.1_Missense_Mutation_p.S49F|RFFL_uc002hip.2_Missense_Mutation_p.S49F|RFFL_uc002hio.2_Missense_Mutation_p.S49F	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	49					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCCCCACAGGACTTGCAGCT	0.607000														17			13		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887472	9887472	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:9887472C>T	uc002koi.4	+	1	1445	c.996C>T	c.(994-996)tcC>tcT	p.S332S	TXNDC2_uc002koh.4_Silent_p.S265S|TXNDC2_uc021ugx.1_Silent_p.S265S	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	332	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCCCCAAGTCCCTAGAGGAAG	0.582000														62			33		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31893359	31893359	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:31893359C>T	uc004dda.1	-	47	7288	c.7044G>A	c.(7042-7044)agG>agA	p.R2348R	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.R1004R|DMD_uc004dcx.2_Silent_p.R1007R|DMD_uc004dcz.2_Silent_p.R2225R|DMD_uc004dcy.1_Silent_p.R2344R|DMD_uc004ddb.1_Silent_p.R2340R|DMD_uc010ngn.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2348			Missing (in DMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R2348K(1)|p.R2343R(1)|p.R1007K(1)|p.R2343K(1)|p.R1007R(1)|p.R2348R(1)|p.R2344K(1)|p.R2344R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAACTGATTCCTAATAGGAG	0.338000														15			8		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7412718	7412718	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:7412718G>A	uc003src.1	-	31	2936	c.2819C>T	c.(2818-2820)cCc>cTc	p.P940L	COL28A1_uc011jxe.1_Missense_Mutation_p.P623L	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	940	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTCAAAGTTGGGATCATTTTT	0.403000														24			18		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142487888	142487888	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:142487888G>A	uc003ywi.2	-	10	1434	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	451							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCAGACACTGGAGGAGCTCAG	0.612000														10			13		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70896023	70896023	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:70896023C>T	uc002ezr.3	-	68	11853	c.11702G>A	c.(11701-11703)gGg>gAg	p.G3901E	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3902										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)				CTGAATCTTCCCCACCGGCAC	0.547000														12			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107048861	107048861	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:107048861C>T	uc021ser.1	-	169		c.7169G>A								Parts of antibodies, mostly variable regions.																		GGACCCAGCTCATGTAGTTGC	0.592000														131			29		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900977	51900977	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:51900977C>T	uc002iua.2	+	0	739	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	195					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R195H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGAAGAGTATCGCAGGCACCT	0.577000														30			16		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152779954	152779954	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:152779954C>T	uc021zhb.1	-	19	2729	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	SYNE1_uc003qot.4_Missense_Mutation_p.E843K|SYNE1_uc003qou.4_Missense_Mutation_p.E836K|SYNE1_uc010kjb.1_Missense_Mutation_p.E819K|SYNE1_uc003qow.3_Missense_Mutation_p.E131K|SYNE1_uc003qox.1_Missense_Mutation_p.E352K|SYNE1_uc003qoz.2_Missense_Mutation_p.E268K|SYNE1_uc003qoy.2_Missense_Mutation_p.E403K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	836					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGATAATTTCATTGATTTTC	0.398000										HNSCC(10;0.0054)				14			21		0	0	1	0	0
RDM1	201299	broad.mit.edu	37	17	34245445	34245445	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:34245445G>A	uc002hkh.3	-	6	805	c.756C>T	c.(754-756)gtC>gtT	p.V252V	DQ592711_uc010wcn.1_5'Flank|RDM1_uc010cty.3_Non-coding_Transcript|RDM1_uc010ctz.3_Silent_p.V111V|RDM1_uc010cua.3_Silent_p.V229V|RDM1_uc002hkg.4_Silent_p.V196V|RDM1_uc010cub.3_Non-coding_Transcript|RDM1_uc010cuf.3_Non-coding_Transcript|RDM1_uc010cue.3_Non-coding_Transcript|RDM1_uc010cug.3_Non-coding_Transcript|RDM1_uc010cuc.3_Silent_p.V134V|RDM1_uc010cud.3_Silent_p.V219V	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA.	252					DNA recombination|DNA repair	Cajal body|PML body|cytoplasm|nucleolus	DNA binding|RNA binding|nucleotide binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGAGCAAGGGACCTGCAAAA	0.493000								Other identified genes with known or suspected DNA repair function						30			19		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629209	47629209	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:47629209G>A	uc001rpq.3	+	1	888	c.363G>A	c.(361-363)atG>atA	p.M121I	FAM113B_uc001rpn.3_Missense_Mutation_p.M121I|FAM113B_uc021qxi.1_Missense_Mutation_p.M121I	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	121							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TGGTCATCATGAATTCCTGCC	0.572000														61			53		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815246	44815246	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:44815246G>A	uc002xrm.2	-	8	2043	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	CDH22_uc010ghk.1_Silent_p.F548F	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	548	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAAGCAGAGAGAAATGAGGGT	0.577000														29			20		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967770	4967770	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:4967770C>T	uc010qys.2	-	0	561	c.561G>A	c.(559-561)atG>atA	p.M187I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAACTTCATGACATCCT	0.418000														12			21		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998311	10998311	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:10998311C>T	uc002yis.1	-	10		c.1942G>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)		TTCTGATTTTCCATCACAATC	0.363000														26			7		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10443871	10443871	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:10443871C>T	uc003bvt.3	-	3	998	c.559G>A	c.(559-561)Gag>Aag	p.E187K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E187K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E187K|ATP2B2_uc010hdp.2_Missense_Mutation_p.E187K|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	187					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTTCCTGCTCGATGCGGCTC	0.572000														112			68		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468383	66468383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:66468383C>T	uc001ojd.3	-	15	3259	c.3187G>A	c.(3187-3189)Gag>Aag	p.E1063K		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1063					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGCCGCGCCTCCCCCAGCGAC	0.677000														18			19		0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42818674	42818674	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:42818674G>A	uc002otk.1	+	2	319	c.267G>A	c.(265-267)ggG>ggA	p.G89G		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	89						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACAAGGCAGGGGACAAGGTGA	0.617000														76			57		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284912	29284912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:29284912G>A	uc001usj.3	-	3	1671	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SLC46A3_uc001usg.3_Missense_Mutation_p.R302C|SLC46A3_uc001usi.3_Missense_Mutation_p.R377C|SLC46A3_uc001ush.3_Missense_Mutation_p.R377C|SLC46A3_uc001usk.3_3'UTR	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	377					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TCAGTCGAACGAACCACTTTT	0.388000														34			41		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608162	29608162	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:29608162G>A	uc001usl.4	+	1	2434	c.2376G>A	c.(2374-2376)aaG>aaA	p.K792K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	782	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATCTGCAAAGAGCAGGATTC	0.517000														16			41		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839075	15839075	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:15839075C>T	uc002nbm.2	+	0	242	c.222C>T	c.(220-222)acC>acT	p.T74T		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCCTCTACACCGTGGCCATCA	0.622000														55			37		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327158	150327158	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:150327158C>T	uc022apv.1	-	1	553	c.73G>A	c.(73-75)Gag>Aag	p.E25K	GIMAP6_uc003whn.3_Missense_Mutation_p.E25K|GIMAP6_uc003whm.3_Missense_Mutation_p.E25K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	25							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGACAGCTCCAGCACAGGA	0.468000														72			33		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10101995	10101995	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:10101995G>A	uc003buw.3	+	18	1752	c.1674G>A	c.(1672-1674)gtG>gtA	p.V558V	FANCD2_uc003bux.1_Silent_p.V558V|FANCD2_uc003buy.1_Silent_p.V558V|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	558					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCACTTGGTGATAAGAAAGC	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					11			10		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45644818	45644818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:45644818C>T	uc001wwd.4	+	13	2960	c.2861C>T	c.(2860-2862)tCt>tTt	p.S954F	FANCM_uc010anf.3_Missense_Mutation_p.S928F|FANCM_uc001wwe.4_Missense_Mutation_p.S490F|FANCM_uc010ang.3_Missense_Mutation_p.S168F	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	954					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATGAAAAATCTGTTTCATCT	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					25			9		0	0	1	0	0
KCNE1L	23630	broad.mit.edu	37	X	108868150	108868150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:108868150G>A	uc004eoh.3	-	0	244	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	Homo sapiens KCNE1-like (KCNE1L), mRNA.	34					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						ATGCTGGGACGAGGGCCAGCG	0.657000														29			10		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600290	3600290	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:3600290C>T	uc003jde.3	+	1	1280	c.1228C>T	c.(1228-1230)Cca>Tca	p.P410S		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	410	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCCTGCACCTCCACCACCGCA	0.701000														29			16		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769190	247769190	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:247769190C>T	uc010pyz.2	+	0	303	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCGCAACTCTATATTTCTC	0.483000														100			56		0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68504126	68504126	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:68504126C>T	uc003jvp.3	+	7	678	c.591C>T	c.(589-591)atC>atT	p.I197I	CENPH_uc010ixc.3_Silent_p.I178I	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	197					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		GGATAAAGATCATACGACAAA	0.313000														22			15		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315498	12315498	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:12315498G>A	uc001mkg.1	+	2	811	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	174					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCTGGTAAAGGAGAAGTTGGG	0.537000														24			24		0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44388621	44388621	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:44388621G>A	uc003jog.1	-	0	164	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	55	Poly-Ser.				ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	p.S54S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GGAGAAGGAGGAGGAAGAAGA	0.537000														21			12		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50149388	50149388	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:50149388C>T	uc002poq.3	+	3	314	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	64					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCATGGCCTTCGATGGCGGCG	0.617000														13			16		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19452009	19452009	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:19452009C>T	uc002dgc.4	+	2	1398	c.649C>T	c.(649-651)Cca>Tca	p.P217S	TMC5_uc010vaq.2_Missense_Mutation_p.P217S|TMC5_uc002dgb.4_Missense_Mutation_p.P217S|TMC5_uc010var.2_Missense_Mutation_p.P217S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	217						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						ACCTAACTCTCCACCCTTTTT	0.453000														31			15		0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135677382	135677382	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:135677382C>T	uc002tuc.2	+	1	194	c.161C>T	c.(160-162)tCt>tTt	p.S54F	LOC100129961_uc010zbe.2_5'Flank|CCNT2_uc010zbf.2_5'UTR|CCNT2_uc002tub.2_Missense_Mutation_p.S54F|CCNT2_uc002tud.2_5'UTR	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	54					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CGTTCCAGCTCTCAGCTTACA	0.348000														8			16		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155736000	155736000	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:155736000G>A	uc001flz.2	-	20	3361	c.3264C>T	c.(3262-3264)tcC>tcT	p.S1088S	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Silent_p.S1088S|GON4L_uc009wrh.1_Silent_p.S1088S|GON4L_uc001fma.1_Silent_p.S1088S|GON4L_uc001fmb.4_Silent_p.S284S|GON4L_uc001fmc.3_Silent_p.S1088S|GON4L_uc001fmd.4_Silent_p.S1088S|GON4L_uc009wri.3_Silent_p.S674S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1088					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCAAAGTCTGGGACTCAGACA	0.572000														25			19		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944443	50944443	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:50944443T>A	uc009xog.3	-	19	2829	c.2795A>T	c.(2794-2796)cAg>cTg	p.Q932L	OGDHL_uc001jie.3_Missense_Mutation_p.Q905L|OGDHL_uc010qgt.2_Missense_Mutation_p.Q848L|OGDHL_uc010qgu.2_Missense_Mutation_p.Q696L	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	905					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTCCAGGTCCTGGCTGCTCCG	0.632000														15			34		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54143144	54143144	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:54143144G>A	uc004dsz.4	-	9	2229	c.2146C>T	c.(2146-2148)Cgg>Tgg	p.R716W	FAM120C_uc011moh.2_Missense_Mutation_p.R716W	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	716										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTCCATTCCCGAAATGTCAGT	0.493000														19			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427550	135427550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:135427550C>T	uc004ezu.1	+	5	1976	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	GPR112_uc010nsb.1_Missense_Mutation_p.S357F|GPR112_uc010nsc.1_Missense_Mutation_p.S329F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	562					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCTTAACATCCTTTTCATTT	0.418000														30			7		0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20174290	20174290	+	Silent	SNP	G	A	A	rs147566276		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:20174290G>A	uc004czu.3	-	20	2037	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	RPS6KA3_uc011mjk.2_Silent_p.I649I|RPS6KA3_uc004czv.3_Silent_p.I666I|RPS6KA3_uc011mjl.2_Silent_p.I650I|RPS6KA3_uc011mjm.2_Silent_p.I651I	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	679	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CCCAGTGGACGATCCAAGGAT	0.473000														49			39		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490067	100490067	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:100490067C>T	uc003uxd.3	-	1	1597	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	UFSP1_uc003uxc.4_5'Flank|ACHE_uc003uxe.3_Missense_Mutation_p.E481K|ACHE_uc003uxf.3_Missense_Mutation_p.E481K|ACHE_uc003uxg.3_Missense_Mutation_p.E481K|ACHE_uc003uxh.3_Missense_Mutation_p.E393K|ACHE_uc003uxi.3_Missense_Mutation_p.E481K	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	481					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AACTCGATCTCGTAGCCGTGG	0.612000														29			15		0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918392	32918392	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:32918392C>T	uc003ocm.2	-	1	363	c.277G>A	c.(277-279)Gga>Aga	p.G93R	HLA-DMA_uc011dqm.1_Missense_Mutation_p.G93R	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	93						MHC class II protein complex|integral to membrane		p.Q92H(1)|p.Q92E(1)		kidney(1)|large_intestine(2)|lung(8)	11						GGAGCATCTCCCTGTTCCTGA	0.522000														84			29		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213386	9213386	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9213386G>A	uc010xkk.2	-	0	597	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CCAGTTCACAGAAGAAGAGCG	0.468000														19			18		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993283	140993283	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:140993283C>T	uc004fbt.3	+	3	417	c.93C>T	c.(91-93)tcC>tcT	p.S31S	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	31							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGACTCCCAGTCTCCTC	0.582000										HNSCC(15;0.026)				60			33		0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118850182	118850182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:118850182G>A	uc001pui.3	+	3	640	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	FOXR1_uc001puj.3_Intron|FOXR1_uc001puk.3_Intron	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	139					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGAGGACCAGGAAGACAGCTC	0.622000														24			16		0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59225273	59225273	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:59225273C>T	uc010rku.2	+	0	840	c.840C>T	c.(838-840)ccC>ccT	p.P280P		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCATTACCCCCATGCTGAACC	0.502000														56			27		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61919372	61919372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:61919372C>T	uc001nsw.1	+	18	2883	c.2681C>T	c.(2680-2682)tCt>tTt	p.S894F	INCENP_uc001nsx.1_Missense_Mutation_p.S890F	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	894					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGCACCAGCTCTGCTGTCTGG	0.607000														30			29		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736261	12736261	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:12736261G>A	uc004cuz.2	+	15	3822	c.3316G>A	c.(3316-3318)Gga>Aga	p.G1106R	FRMPD4_uc011mij.2_Missense_Mutation_p.G1098R	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1106					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAAAAAAGTGGATTAGAAGC	0.502000														83			49		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303877	45303877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:45303877G>A	uc003jok.3	-	5	1467	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	481						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACAAAATTAGGATCCGCATT	0.388000														48			29		0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74159104	74159104	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:74159104T>C	uc003uau.3	+	20	2128	c.1758T>C	c.(1756-1758)gcT>gcC	p.A586A	GTF2I_uc003uav.3_Silent_p.A565A|GTF2I_uc003uaw.3_Silent_p.A566A|GTF2I_uc003uay.3_Silent_p.A564A|GTF2I_uc003uax.3_Silent_p.A545A	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	586					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CAGCTCAAGCTCTTGGACTCA	0.448000														13			4		0	0	1	0	0
C1orf95	375057	broad.mit.edu	37	1	226784624	226784624	+	Silent	SNP	C	T	T	rs148475965		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:226784624C>T	uc021pjx.1	+	1	429	c.324C>T	c.(322-324)atC>atT	p.I108I	C1orf95_uc021pjw.1_Silent_p.I108I	NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	Homo sapiens chromosome 1 open reading frame 95 (C1orf95), mRNA.	108						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TCACTGCCATCGTCATGGTGG	0.612000														66			43		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137302	40137302	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:40137302C>T	uc021qgf.1	-	0	541	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E177K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E177K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E181K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E177K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	181					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTTTCAATTCCCCTAAGTCT	0.438000														31			17		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027208	37027208	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:37027208G>A	uc004ddl.2	+	0	777	c.725G>A	c.(724-726)gGa>gAa	p.G242E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	242										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGAGACTGGAGTGTCCCAT	0.632000														55			26		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440111	124440111	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:124440111C>T	uc010san.2	+	0	147	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCCTCTTCCTCGGGATCTACT	0.502000														31			20		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60923774	60923774	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:60923774C>T	uc001xez.4	-	14	1329	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C14orf39_uc010apo.3_Missense_Mutation_p.D118N	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	407										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCATCACTATCATTTTCTACT	0.348000														42			23		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116075333	116075334	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:116075333_116075334CC>TT	uc001lbn.3	-	5	898_899	c.597_598GG>AA	c.(595-600)aaggac>aaAAac	p.D200N	AFAP1L2_uc001lbo.3_Missense_Mutation_p.D200N|AFAP1L2_uc010qse.2_Missense_Mutation_p.D253N|AFAP1L2_uc001lbp.3_Missense_Mutation_p.D228N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D200N	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	200	PH 1.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGCCTGTTGTCCTTGATGACAC	0.629000														7			9		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150945466	150945466	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:150945466G>A	uc003lue.4	-	0	3040	c.3027C>T	c.(3025-3027)gcC>gcT	p.A1009A	FAT2_uc010jhx.1_Silent_p.A1009A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1009	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCCTGCGGGCTAGGGGCC	0.602000														13			13		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45477989	45477989	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:45477989C>T	uc001jbp.3	+	2	1801	c.252C>T	c.(250-252)atC>atT	p.I84I	RASSF4_uc001jbo.3_Silent_p.I53I|RASSF4_uc009xmn.3_5'UTR|RASSF4_uc001jbq.3_5'UTR|RASSF4_uc001jbt.3_5'UTR			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	53					cell cycle|signal transduction		protein binding	p.S84L(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTCTGATCATCGAGGGGCTCC	0.637000														3			6		0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402702	33402703	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:33402702_33402703GG>TT	uc010oho.2	-	8	1903_1904	c.1903_1904CC>AA	c.(1903-1905)ccc>AAc	p.P635N	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Missense_Mutation_p.P634N	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	635						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCTGCAGGGGGGATCCTCTTCA	0.569000														58			29		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076535	57076535	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:57076535G>A	uc001njr.3	-	4	3962	c.3650C>T	c.(3649-3651)cCg>cTg	p.P1217L	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P1217L|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P668L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1217	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GATTCCCCCCGGCTCTTCAGA	0.592000														133			91		0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46408063	46408063	+	Silent	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:46408063G>T	uc001nct.1	-	0	45	c.45C>A	c.(43-45)tcC>tcA	p.S15S		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	15					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CCAGGCGCACGGACTGATTGC	0.577000														47			26		8.24728e-16	8.38974e-16	1	1	0
IL17RD	54756	broad.mit.edu	37	3	57135230	57135231	+	Missense_Mutation	DNP	GG	AA	AA	rs145766256		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:57135230_57135231GG>AA	uc003dil.3	-	10	1229_1230	c.1140_1141CC>TT	c.(1138-1143)ttcctc>ttTTtc	p.L381F	IL17RD_uc003dik.3_Missense_Mutation_p.L357F|IL17RD_uc010hna.3_Missense_Mutation_p.L237F|IL17RD_uc011bex.1_Missense_Mutation_p.L237F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	381	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAGTCCTGGAGGAAGTAGGCGA	0.554000														12			7		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775487	24775487	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:24775487A>T	uc003xed.4	+	2	2152	c.2119A>T	c.(2119-2121)Aag>Tag	p.K707*	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Nonsense_Mutation_p.K331*	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	707	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ggaagaagaaaaggaagtcaa	0.453000														4			3		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139907180	139907180	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:139907180G>A	uc004ckm.1	-	30	5202	c.5152C>T	c.(5152-5154)Cgc>Tgc	p.R1718C	ABCA2_uc022bpy.1_Missense_Mutation_p.R1619C|ABCA2_uc022bpz.1_Missense_Mutation_p.R1689C|ABCA2_uc011mem.1_Missense_Mutation_p.R1688C|ABCA2_uc004ckl.1_Missense_Mutation_p.R1619C|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1688					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGTCGGAAGCGGTCGGAGGTG	0.662000														7			9		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5853183	5853183	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:5853183G>A	uc003gis.3	-	4	923	c.834C>T	c.(832-834)ttC>ttT	p.F278F	CRMP1_uc003giq.3_Silent_p.F164F|CRMP1_uc003gir.3_Silent_p.F159F	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	164					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGTAGACTTGGAAGGAATTGA	0.443000														63			35		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332338	70332338	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:70332338C>T	uc001oqc.3	-	20	3974	c.3862G>A	c.(3862-3864)Gaa>Aaa	p.E1288K	SHANK2_uc010rqn.2_Missense_Mutation_p.E764K|SHANK2_uc001opz.3_Missense_Mutation_p.E759K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	975					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTTCGGTTTCGGAAACACCT	0.617000														25			15		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160061597	160061597	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:160061597G>A	uc003lym.1	-	11	1992	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	ATP10B_uc003lyp.2_Missense_Mutation_p.S382F|ATP10B_uc011deg.1_Missense_Mutation_p.S426F|ATP10B_uc003lyn.3_5'UTR|ATP10B_uc003lyo.2_Missense_Mutation_p.S354F	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	382					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACATACAAAGAGATGGGGAT	0.463000														23			10		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44364086	44364086	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:44364086G>A	uc003oxl.3	+	4	758	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	150					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGATGAACTTGAGATGCTTTC	0.383000														43			18		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86512515	86512515	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:86512515C>T	uc001dlj.3	-	11	2018	c.1943G>A	c.(1942-1944)gGg>gAg	p.G648E	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.G648E	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	648					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TACCTGTCTCCCCTTAAAacc	0.313000														20			12		0	0	1	0	0
C1orf162	128346	broad.mit.edu	37	1	112019446	112019446	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:112019446G>T	uc001ebe.3	+	2	124	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	Homo sapiens chromosome 1 open reading frame 162 (C1orf162), mRNA.	22						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCCACAGCAGCCCCAACAAC	0.448000														67			43		2.40228e-13	2.43476e-13	1	1	0
MYOC	4653	broad.mit.edu	37	1	171605754	171605754	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:171605754G>A	uc001ghu.3	-	2	848	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	MYOC_uc010pmk.2_Missense_Mutation_p.P218S	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	276	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGGTAGGTGGGCTTGGGGTCT	0.527000														31			20		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160738735	160738736	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:160738735_160738736CC>TT	uc002ubb.4	-	6	1219_1220	c.1145_1146GG>AA	c.(1144-1146)tgg>tAA	p.W382*	LY75-CD302_uc010fos.3_Nonsense_Mutation_p.W382*|LY75-CD302_uc002ubc.4_Nonsense_Mutation_p.W382*|LY75-CD302_uc010fot.2_Nonsense_Mutation_p.W382*	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	382	C-type lectin 2.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GTGCCTTATCCCAGGAATTACT	0.450000														14			28		0	0	1	0	0
RGS2	5997	broad.mit.edu	37	1	192780138	192780138	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:192780138T>C	uc001gsl.3	+	3	335	c.302T>C	c.(301-303)tTa>tCa	p.L101S		NM_002923	NP_002914	P41220	RGS2_HUMAN	Homo sapiens regulator of G-protein signaling 2, 24kDa (RGS2), mRNA.	101	Necessary to inhibit protein synthesis.|RGS.				cell cycle|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	GTPase activator activity|calmodulin binding|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						AGGGCTTTTTTAAAGTCGGAA	0.413000														38			29		0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9086545	9086545	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:9086545C>T	uc001qvd.3	+	8	2134	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	PHC1_uc010sgn.1_3'UTR|PHC1_uc001qve.3_Missense_Mutation_p.P660S	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	660					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TTCAATGCTTCCTGCCAAGGC	0.488000														15			4		0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18499348	18499348	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:18499348G>A	uc002niv.2	+	1	562	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_004864	NP_004855	Q99988	GDF15_HUMAN	Homo sapiens growth differentiation factor 15 (GDF15), mRNA.	177					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TCGTCCGCACGGCCCCAGCTG	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3			5		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506460	11506460	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:11506460G>A	uc001qzw.1	-	3	611	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	254	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGTGGGGGACCCTGAGGT	0.607000														88			84		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684184	75684184	+	Missense_Mutation	SNP	C	T	T	rs143004355	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:75684184C>T	uc010oqz.1	-	15	1703	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	SLC44A5_uc001dgt.2_Missense_Mutation_p.R507Q|SLC44A5_uc001dgs.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgr.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgu.3_Missense_Mutation_p.R507Q|SLC44A5_uc010ora.2_Missense_Mutation_p.R501Q|SLC44A5_uc010orb.2_Missense_Mutation_p.R377Q	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	507						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCGTATGGCTCGTCCAAATGC	0.433000														61			44		0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68551978	68551978	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:68551978C>T	uc001stw.1	-	1	302	c.176G>A	c.(175-177)tGg>tAg	p.W59*		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	59					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	TACCTCTTTCCAATTCTTCAA	0.348000														15			8		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83352835	83352835	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:83352835C>T	uc004eej.2	-	18	1834	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	RPS6KA6_uc011mqt.2_Missense_Mutation_p.D600N|RPS6KA6_uc011mqu.2_Missense_Mutation_p.D497N	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	600	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CAAGCAGCATCATATCCCTGT	0.308000														56			44		0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10046892	10046892	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:10046892G>A	uc004csx.4	+	3	472	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_5'Flank	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	92										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AATTAAAGCAGAAATAGCAAG	0.393000														58			39		0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446390	43446390	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:43446390G>C	uc003jny.3	-	2	725	c.582C>G	c.(580-582)ttC>ttG	p.F194L	C5orf28_uc003jnv.4_Missense_Mutation_p.F194L|C5orf28_uc003jnx.3_Missense_Mutation_p.F194L	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA.	194						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AATACATAACGAATGAACAGA	0.388000														12			17		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121107	124121107	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:124121107C>T	uc001pzx.3	+	0	685	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CCTCCACATTCGCTCCACTGA	0.463000														55			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21239339	21239339	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:21239339T>A	uc002red.3	-	20	3432	c.3304A>T	c.(3304-3306)Act>Tct	p.T1102S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1102					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)	GCGACCTCAGTAATTTTCTTG	0.473000														7			12		0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227077815	227077815	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:227077815C>T	uc009xeo.1	+	8	1294	c.867C>T	c.(865-867)ttC>ttT	p.F289F	PSEN2_uc009xep.1_Silent_p.F289F|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	289					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				AGCCCATATTCCCTGCCCTGA	0.592000														44			25		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508130	71508130	+	Silent	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:71508130T>G	uc011caw.1	+	8	1268	c.987T>G	c.(985-987)ccT>ccG	p.P329P		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	329					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAATTTTCCTTCAGGAAGAC	0.448000														34			31		0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1140777	1140777	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:1140777G>A	uc001add.3	-	1	421	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	TNFRSF18_uc001ada.3_Missense_Mutation_p.P23S|TNFRSF18_uc001adb.3_Missense_Mutation_p.P95S|TNFRSF18_uc001adc.3_Missense_Mutation_p.P95S	NM_148901	NP_683699	Q9Y5U5	TNR18_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 18 (TNFRSF18), transcript variant 2, mRNA.	95					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGCCTGGGGGACAAGGGTGG	0.657000														9			11		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70493873	70493873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:70493873G>A	uc001dep.3	+	15	1730	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	567						centrosome|focal adhesion|nucleolus	protein binding	p.R567*(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AACCTAAAACGATATCCAACT	0.323000														31			20		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62481960	62481960	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:62481960A>G	uc002jei.3	-	4	1093	c.995T>C	c.(994-996)gTt>gCt	p.V332A	POLG2_uc021ubq.1_Missense_Mutation_p.V65A|POLG2_uc010deg.2_Missense_Mutation_p.V332A	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	332					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AACACAAGGAACCACATTTTT	0.408000														28			12		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328996	3328996	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:3328996C>T	uc001akf.3	+	8	2317	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	PRDM16_uc001ake.3_Silent_p.L745L|PRDM16_uc009vlh.3_Silent_p.L446L|PRDM16_uc001akc.3_Silent_p.L745L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	745	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCGAGCCCTCGCCCACAACT	0.647000			T	EVI1	"""MDS, AML"""									52			26		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307396	46307396	+	Silent	SNP	C	T	T	rs76939117		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:46307396C>T	uc003cpl.2	+	2	1877	c.846C>T	c.(844-846)ttC>ttT	p.F282F	CCR3_uc003cpg.2_Silent_p.F249F|CCR3_uc003cpk.2_Silent_p.F270F|CCR3_uc003cpi.2_Silent_p.F249F|CCR3_uc010hjb.2_Silent_p.F267F|CCR3_uc003cpj.2_Silent_p.F249F|CCR3_uc021wwz.1_Silent_p.F249F	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	249					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CGGTGTTTTTCATTTTCTGGA	0.458000														13			13		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63173899	63173899	+	Missense_Mutation	SNP	C	T	T	rs145263061		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:63173899C>T	uc002jfe.3	+	8	835	c.632C>T	c.(631-633)cCg>cTg	p.P211L	RGS9_uc021ubw.1_Missense_Mutation_p.P211L|RGS9_uc010dem.3_Missense_Mutation_p.P211L|RGS9_uc002jfd.3_Missense_Mutation_p.P211L	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	211					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.P211L(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GTGACCAATCCGAATGAAGTC	0.488000														25			31		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111711374	111711374	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:111711374T>C	uc003puy.4	-	5	1013	c.672A>G	c.(670-672)atA>atG	p.I224M	REV3L_uc003pux.4_Missense_Mutation_p.I146M|REV3L_uc003puz.4_Missense_Mutation_p.I146M	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	224					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACCTTCCAATATTAAAGAGC	0.308000								DNA polymerases (catalytic subunits)						7			15		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809008	7809008	+	Missense_Mutation	SNP	G	A	A	rs148485547		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:7809008G>A	uc002mht.2	-	5	1065	c.998C>T	c.(997-999)tCa>tTa	p.S333L	CD209_uc010xju.1_Missense_Mutation_p.S172L|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Missense_Mutation_p.S309L|CD209_uc002mhs.2_Missense_Mutation_p.S263L|CD209_uc002mhu.2_Missense_Mutation_p.S241L|CD209_uc010dvq.2_Missense_Mutation_p.S327L|CD209_uc002mhq.2_Missense_Mutation_p.S333L|CD209_uc002mhv.2_Missense_Mutation_p.S309L|CD209_uc002mhx.2_Missense_Mutation_p.S289L|CD209_uc002mhw.2_Missense_Mutation_p.S197L|CD209_uc010dvr.2_Missense_Mutation_p.S97L	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	333	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAACAGAGGTGAGCCGTCCAC	0.527000														37			11		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10298675	10298675	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:10298675G>A	uc002gmm.2	-	33	4832	c.4737C>T	c.(4735-4737)atC>atT	p.I1579I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1579					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTTTCTGCGATTTTTCTAT	0.418000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					7			17		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84043400	84043400	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:84043400C>T	uc002fhg.1	-	9	1297	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	433					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGAACATCTCCCAGACCGCT	0.622000														18			11		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172100375	172100375	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:172100375G>A	uc001gie.3	+	13	1782	c.1606G>A	c.(1606-1608)Gga>Aga	p.G536R	DNM3_uc001gid.4_Missense_Mutation_p.G536R|DNM3_uc009wwb.2_Missense_Mutation_p.G536R|DNM3_uc001gif.3_Missense_Mutation_p.G536R	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	546	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGGCTCGAAGGGATACTGGTT	0.433000														9			5		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85515512	85515512	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:85515512C>T	uc001tac.3	+	15	3526	c.3415C>T	c.(3415-3417)Ctc>Ttc	p.L1139F	LRRIQ1_uc021rbo.1_Missense_Mutation_p.L1017F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1139	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTGAGAATCCTCAATGGCAA	0.378000														17			10		0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75134884	75134884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:75134884C>T	uc001owm.2	-	4	1415	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.	252										lung(2)|stomach(1)	3						TGCTGGTGACCGCAGGCTCCA	0.592000														30			23		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817561	24817561	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:24817561A>G	uc002dmm.3	+	15	4400	c.4286A>G	c.(4285-4287)cAg>cGg	p.Q1429R	TNRC6A_uc010bxs.3_Missense_Mutation_p.Q1176R|TNRC6A_uc002dmn.3_Missense_Mutation_p.Q1127R|TNRC6A_uc002dmo.3_Missense_Mutation_p.Q1068R|TNRC6A_uc002dmp.3_Missense_Mutation_p.Q30R|TNRC6A_uc002dmq.3_Missense_Mutation_p.Q96R	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1429					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCGCAGAGTCAGAGAAGCGTG	0.502000														19			13		0	0	1	0	0
TMEM47	83604	broad.mit.edu	37	X	34648488	34648488	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:34648488G>A	uc004ddh.3	-	2	747	c.488C>T	c.(487-489)tCg>tTg	p.S163L	TMEM47_uc010ngs.3_Non-coding_Transcript	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	Homo sapiens transmembrane protein 47 (TMEM47), mRNA.	163						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACCCCCAAACGAAAATATAGT	0.428000														29			18		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907626	39907626	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:39907626C>T	uc010xuz.2	+	6	1055	c.730C>T	c.(730-732)Cat>Tat	p.H244Y	PLEKHG2_uc010xuy.2_Missense_Mutation_p.H185Y|PLEKHG2_uc002olj.3_Missense_Mutation_p.H244Y|PLEKHG2_uc010xva.2_Missense_Mutation_p.H51Y	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	244	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCAAGTACCATCTGCTGCT	0.657000														37			20		0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515331	54515331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:54515331G>A	uc002qct.3	+	3	1261	c.671G>A	c.(670-672)gGc>gAc	p.G224D	CACNG6_uc002qcu.3_Missense_Mutation_p.G178D|CACNG6_uc002qcv.3_Missense_Mutation_p.G153D	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	224						voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.C223C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGGGCTGCGGCGTGGGGGCC	0.706000														55			29		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307998	140307998	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140307998C>T	uc003lih.2	+	0	1697	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.I507I	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	531	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGCCATCACTGCCAAAA	0.512000														42			32		0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86518725	86518725	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:86518725C>T	uc021qok.1	+	0	40	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Silent_p.L14L|PRSS23_uc001pcb.3_Silent_p.L14L	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	14					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTCTTCTTTCTGCTCTGTGC	0.567000														60			36		0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374321	23374321	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:23374321G>A	uc001whg.3	-	7	907	c.708C>T	c.(706-708)atC>atT	p.I236I	RBM23_uc001whh.3_Silent_p.I220I|RBM23_uc001whi.3_Silent_p.I202I|RBM23_uc010tne.2_Silent_p.I66I|RBM23_uc001whj.3_5'UTR|RBM23_uc001whk.1_Silent_p.I236I	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	236	RRM 1.				mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CCTGTACAATGATAGGCACTC	0.527000														21			17		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128321020	128321020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:128321020G>A	uc003kuy.3	+	2	1072	c.676G>A	c.(676-678)Gga>Aga	p.G226R	SLC27A6_uc003kuz.3_Missense_Mutation_p.G226R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	226					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTTACCTCTGGAACAACAGG	0.428000														5			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829627	106829627	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:106829627G>A	uc021ser.1	-	518		c.15276C>T			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTCCGCGGCGGTCACAGAGC	0.572000														127			75		0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68572406	68572406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:68572406C>T	uc003jvs.4	+	10	1082	c.901C>T	c.(901-903)Cca>Tca	p.P301S	CDK7_uc021xzo.1_Missense_Mutation_p.P301S|CDK7_uc003jvt.4_Missense_Mutation_p.P260S	NM_001799	NP_001790	P50613	CDK7_HUMAN	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.	301					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell division|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	ATP binding|DNA-dependent ATPase activity|RNA polymerase II carboxy-terminal domain kinase activity|androgen receptor binding|cyclin-dependent protein kinase activity|protein C-terminus binding|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TCGGCCAGGGCCAACACCTGG	0.403000								Nucleotide excision repair (NER)						21			14		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322946	134322946	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:134322946C>T	uc010hty.3	-	10	1523	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Silent_p.E466E	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	487						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TAATGCCCTCCTCCACGCTGA	0.612000														10			4		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881818	38881818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:38881818C>T	uc003jln.2	+	3	772	c.370C>T	c.(370-372)Cct>Tct	p.P124S	OSMR_uc003jlm.2_Missense_Mutation_p.P124S	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	124					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGCCAAGTTCCCTGAGCCAAA	0.448000														26			12		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568606	61568606	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:61568606G>A	uc002jau.2	+	18	2810	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	ACE_uc010wpj.2_Missense_Mutation_p.D352N|ACE_uc010ddv.2_Missense_Mutation_p.D153N|ACE_uc002jav.2_Missense_Mutation_p.D352N|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.D172N	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	926	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGAGGCTGATGATTTCTTCAC	0.632000														26			29		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447616	82447616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:82447616C>T	uc001dit.4	+	17	3368	c.3187C>T	c.(3187-3189)Cag>Tag	p.Q1063*	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Nonsense_Mutation_p.Q1063*|LPHN2_uc001div.3_Nonsense_Mutation_p.Q1063*|LPHN2_uc009wcd.3_Nonsense_Mutation_p.Q1063*|LPHN2_uc001diw.3_Nonsense_Mutation_p.Q647*|LPHN2_uc009wce.1_Nonsense_Mutation_p.Q164*	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1076					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATGCTTTCCAGGGAGTGTT	0.378000														40			22		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171455	39171455	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:39171455C>T	uc004abi.3	-	7	1483	c.1244G>A	c.(1243-1245)gGt>gAt	p.G415D	CNTNAP3_uc004abj.3_Missense_Mutation_p.G415D|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.G415D|CNTNAP3_uc011lqs.1_Missense_Mutation_p.G415D	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	415	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACTCCCTGAACCACGTCGAAG	0.502000														36			24		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49323652	49323652	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:49323652G>A	uc003cwq.2	-	15	2158	c.2079C>T	c.(2077-2079)acC>acT	p.T693T	USP4_uc003cwp.2_Silent_p.T423T|USP4_uc003cwr.2_Silent_p.T646T	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	693					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCTTCTTTTGGGTGGTCTCAC	0.473000														30			21		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42361152	42361152	+	Silent	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:42361152A>G	uc001wvm.3	+	3	3283	c.2085A>G	c.(2083-2085)gcA>gcG	p.A695A	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	695						integral to membrane		p.A695P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTAAAAGAGCACATATAAAGC	0.443000										HNSCC(30;0.082)				6			9		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196794618	196794618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:196794618G>A	uc001gtn.3	+	1	184	c.70G>A	c.(70-72)Gat>Aat	p.D24N	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	24	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AACATTTTGTGATTTTCCAAA	0.279000														15			5		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121383805	121383805	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:121383805C>T	uc001pxx.3	+	6	1162	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	345					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACAAGACATCCTATTAATGT	0.522000														21			18		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118230538	118230538	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:118230538G>A	uc004era.4	-	7	1185	c.1185C>T	c.(1183-1185)acC>acT	p.T395T		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	395										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AACAGCCCTGGGTGGTGGCTG	0.498000														17			12		0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43176825	43176825	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:43176825C>T	uc002ihz.3	+	7	955	c.937C>T	c.(937-939)Cac>Tac	p.H313Y		NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	313					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GAAGTTCTCCCACCTGAGCAG	0.577000											OREG0024470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			21		0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27369096	27369096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:27369096G>A	uc003njf.1	+	2	1465	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	ZNF391_uc021ypw.1_Missense_Mutation_p.R316Q	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R316Q(3)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGCTTCAGTCGAAGCTCATCC	0.463000														32			12		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	59341	59341	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:59341G>A	uc003fzv.1	+	1	178	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ZNF718_uc003fzt.4_Missense_Mutation_p.D8N|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AACATTCAGGGATGTGGCCAT	0.418000														218			25		0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44259765	44259765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:44259765G>A	uc003tkq.2	-	22	2107	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	CAMK2B_uc003tkp.2_Missense_Mutation_p.R509C|CAMK2B_uc003tkr.2_Missense_Mutation_p.R485C|CAMK2B_uc003tks.2_Missense_Mutation_p.R484C|CAMK2B_uc003tku.2_Missense_Mutation_p.R470C|CAMK2B_uc003tkv.2_Missense_Mutation_p.R446C|CAMK2B_uc003tkt.2_Missense_Mutation_p.R459C|CAMK2B_uc003tkw.2_Missense_Mutation_p.R416C|CAMK2B_uc010kyc.2_Missense_Mutation_p.R509C|CAMK2B_uc003tkn.2_Missense_Mutation_p.R266C	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	633					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGGCTGGTGCGGGGCCGGCCC	0.672000														7			4		0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27012113	27012113	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:27012113C>T	uc003acy.1	-	1	241	c.171G>A	c.(169-171)ggG>ggA	p.G57G		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	57	N-terminal arm.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCCTGTAGTTCCCAGGAGGCA	0.617000														23			17		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898670	103898670	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:103898670C>A	uc001kum.3	+	3	563	c.524C>A	c.(523-525)cCa>cAa	p.P175Q	PPRC1_uc001kun.3_Missense_Mutation_p.P55Q|PPRC1_uc010qqj.2_Missense_Mutation_p.P175Q|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding	p.P175P(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGGACACCCCCAGAACGTGAC	0.542000														9			17		1.45105e-14	1.47521e-14	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58620522	58620522	+	Silent	SNP	G	A	A	rs145116433		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:58620522G>A	uc002env.3	-	6	857	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.L188L|CNOT1_uc002enx.3_Silent_p.L188L|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	188					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCCCAAAGAGGAGATGGGAGA	0.488000														172			94		0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107216802	107216803	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:107216802_107216803CC>TT	uc011cvc.2	-	7	2307_2308	c.1900_1901GG>AA	c.(1900-1902)gga>AAa	p.G634K	FBXL17_uc003kon.4_Missense_Mutation_p.G236K	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	634										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAGGGTGGCTCCTTGGTCTGTG	0.450000														50			37		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536432	74536432	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:74536432G>A	uc002axo.3	+	1	522	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	246							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCCTCCATGGGGCTACCAAC	0.617000														43			25		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357368	38357368	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:38357368C>T	uc010abx.3	-	1	338	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.A35T|TRPC4_uc001uws.3_Missense_Mutation_p.A35T|TRPC4_uc010tey.2_Missense_Mutation_p.A35T|TRPC4_uc010abw.3_Missense_Mutation_p.A35T|TRPC4_uc010aby.3_Missense_Mutation_p.A35T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	35					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCAAGTAGGCTTTTTCTGAT	0.383000														135			34		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243377	6243377	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:6243377C>T	uc002kmz.4	-	6	536	c.376G>A	c.(376-378)Gat>Aat	p.D126N	L3MBTL4_uc002kmy.4_Missense_Mutation_p.D126N|L3MBTL4_uc010dkt.3_Missense_Mutation_p.D126N	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	126					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTCCAAAAATCATAGCAACTT	0.388000														31			10		0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132425303	132425303	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:132425303C>T	uc003kyj.3	+	10	1575	c.1294C>T	c.(1294-1296)Ctt>Ttt	p.L432F		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	432					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTAAAGTTCTTACATTTTA	0.388000														12			6		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47644047	47644047	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:47644047C>T	uc003gxm.3	-	15	2181	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V	CORIN_uc011bzf.2_Silent_p.V557V|CORIN_uc011bzg.2_Silent_p.V629V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	696	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGAGGAGTTCACATTTATAG	0.448000														16			16		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	A	A	rs34553661		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:55782888G>A	uc010qhy.1	-	19	2700	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	PCDH15_uc010qhq.2_Missense_Mutation_p.R769C|PCDH15_uc010qhr.2_Missense_Mutation_p.R764C|PCDH15_uc021pqv.1_Missense_Mutation_p.R764C|PCDH15_uc021pqw.1_Missense_Mutation_p.R776C|PCDH15_uc010qht.2_Missense_Mutation_p.R771C|PCDH15_uc021pqx.1_Missense_Mutation_p.R764C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R764C|PCDH15_uc021pqz.1_Missense_Mutation_p.R742C|PCDH15_uc010qhv.1_Missense_Mutation_p.R764C|PCDH15_uc010qhw.1_Missense_Mutation_p.R727C|PCDH15_uc010qhx.1_Missense_Mutation_p.R693C|PCDH15_uc010qhz.1_Missense_Mutation_p.R764C|PCDH15_uc010qia.1_Missense_Mutation_p.R742C|PCDH15_uc001jju.1_Missense_Mutation_p.R764C|PCDH15_uc010qib.1_Missense_Mutation_p.R742C|PCDH15_uc001jjw.3_Missense_Mutation_p.R764C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	764	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)				9			17		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358364	66358364	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:66358364T>C	uc001oiq.4	-	0	2191	c.2123A>G	c.(2122-2124)aAa>aGa	p.K708R	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	708										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAGGCGGGCTTTGGAGCTATA	0.547000														52			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076306	9076306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:9076306G>A	uc002mkp.3	-	2	11344	c.11140C>T	c.(11140-11142)Cat>Tat	p.H3714Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3715	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						GTACTAGCATGATCTGTAGAA	0.458000														37			26		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42185570	42185570	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:42185570C>T	uc001zos.3	-	1	354	c.21G>A	c.(19-21)acG>acA	p.T7T		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	42	Actin-binding.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAATGTGGCCCGTCTCGTACT	0.607000														17			20		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635279	42635279	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:42635279G>A	uc010ggo.3	+	2	298	c.258G>A	c.(256-258)ggG>ggA	p.G86G	TOX2_uc002xle.4_Silent_p.G44G|TOX2_uc010ggp.3_Silent_p.G44G|TOX2_uc002xlf.4_Silent_p.G95G|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	95	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCACCTGGGGGACCACGAAG	0.607000														35			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776692	13776692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:13776692G>A	uc003jfd.2	-	54	9271	c.9229C>T	c.(9229-9231)Cgg>Tgg	p.R3077W		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3077	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3076I(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTCGGACCCGACTCATGAAG	0.463000									Kartagener syndrome					36			18		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14803054	14803054	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:14803054G>A	uc003byy.3	+	14	2879	c.2427G>A	c.(2425-2427)ctG>ctA	p.L809L	C3orf20_uc003byz.3_Silent_p.L687L|C3orf20_uc003bza.3_Silent_p.L687L|C3orf20_uc003bzb.1_Silent_p.L310L|C3orf20_uc011avj.2_Silent_p.L136L	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	809						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGAATCTGCTGAAACAGATCT	0.488000														27			16		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491772	71491772	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:71491772G>A	uc003kbw.4	+	4	2831	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	MAP1B_uc010iyw.1_Missense_Mutation_p.E881K|MAP1B_uc010iyx.1_Missense_Mutation_p.E738K|MAP1B_uc010iyy.1_Missense_Mutation_p.E738K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	864						microtubule|microtubule associated complex	structural molecule activity	p.E864K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATCGAAGACGAAGAGAAACT	0.493000														46			38		0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579128	41579128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:41579128G>A	uc001cgo.3	-	7	911	c.542C>T	c.(541-543)cCt>cTt	p.P181L	SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Missense_Mutation_p.P120L|SCMH1_uc001cgr.3_Missense_Mutation_p.P120L|SCMH1_uc001cgq.3_Missense_Mutation_p.P134L|SCMH1_uc001cgs.3_Missense_Mutation_p.P191L|SCMH1_uc001cgt.3_Missense_Mutation_p.P120L|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	181					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AATGAAATGAGGGTTCTTCCT	0.512000														18			15		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024766	176024766	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:176024766G>A	uc003meo.1	-	1	2245	c.2070C>T	c.(2068-2070)tcC>tcT	p.S690S	GPRIN1_uc021yif.1_Silent_p.S690S	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	690						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTCCCCAGGGACACAGGCT	0.577000														23			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222038	140222038	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140222038G>A	uc003lhs.2	+	0	1132	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	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_uc003lhr.1_Missense_Mutation_p.D378N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	393	Cadherin 4.				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)			GAACGACCTCGATTCAGGTGC	0.522000														86			56		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222414	140222414	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140222414C>T	uc003lhs.2	+	0	1508	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L	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_uc003lhr.1_Missense_Mutation_p.S503L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	517	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCTCGCTGTCGAGC	0.667000														59			46		0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089646	42089646	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:42089646C>T	uc010zwg.2	+	5	1148	c.978C>T	c.(976-978)tcC>tcT	p.S326S	SRSF6_uc002xki.3_Silent_p.S197S	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	326	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CTTCAAGATCCCGTTCTAGAT	0.488000														29			24		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4107739	4107739	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:4107739C>T	uc021qco.1	+	10	2075	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	STIM1_uc001lyv.2_Silent_p.L503L|STIM1_uc009yef.2_Silent_p.L503L|STIM1_uc009yeg.2_Silent_p.L330L	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	503					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TCGGCAGCGCCTGACGGAGCC	0.617000														19			10		0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68707276	68707276	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:68707276T>A	uc001stz.2	-	10	1802	c.1666A>T	c.(1666-1668)Aaa>Taa	p.K556*	MDM1_uc009zqv.1_Nonsense_Mutation_p.K276*|MDM1_uc010stc.1_Nonsense_Mutation_p.K521*	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	556						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GTCATTCTTTTCCTCTGTTCT	0.353000														17			16		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2824233	2824233	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:2824233C>T	uc022aqr.1	-	57	9349	c.8959G>A	c.(8959-8961)Gga>Aga	p.G2987R	CSMD1_uc011kwj.2_Missense_Mutation_p.G2317R|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2988	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATCATTCCGTTGGTGGGT	0.527000														10			5		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100482	93100482	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:93100482G>A	uc001tch.2	+	1	526	c.75G>A	c.(73-75)agG>agA	p.R25R	C12orf74_uc001tci.3_Silent_p.R25R|C12orf74_uc021rbt.1_Silent_p.R25R	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	25										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTCGCTGAGGAGCCTGCCAA	0.572000														26			15		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98608864	98608864	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:98608864T>C	uc003upp.3	+	69	11295	c.11086T>C	c.(11086-11088)Tta>Cta	p.L3696L	TRRAP_uc011kis.2_Silent_p.L3667L|TRRAP_uc003upr.3_Silent_p.L3402L|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3696	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCGAGATGTTACAGATCGC	0.493000														55			27		0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830454	38830454	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:38830454T>C	uc010ifg.2	-	1	762	c.641A>G	c.(640-642)aAc>aGc	p.N214S	TLR6_uc003gtm.3_Missense_Mutation_p.N214S	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	214					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACTGATATGTTCACTTGGAT	0.303000														24			11		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115584239	115584239	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:115584239C>T	uc004eqi.3	+	8	1348	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	406					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CCAGGTGGTCCATTTTGGTCC	0.363000														33			17		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648492	130648492	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:130648492C>T	uc001uii.3	+	0	1489	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	335					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCACCTGGTTCCTGGCCGCCG	0.647000														26			13		0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1444865	1444865	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:1444865C>T	uc021tng.1	-	5	623	c.367G>A	c.(367-369)Gag>Aag	p.E123K	PITPNA_uc021tnf.1_Missense_Mutation_p.E32K|PITPNA_uc010cjt.3_Intron	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	123					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CTCACATTCTCCTGCGTGCCA	0.468000														5			13		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6008061	6008061	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:6008061C>T	uc001mcd.2	-	0	155	c.100G>A	c.(100-102)Ggg>Agg	p.G34R		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGAATCCCTACCAGGAGA	0.463000														13			9		0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37247200	37247200	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:37247200G>A	uc003onn.3	+	2	380	c.234G>A	c.(232-234)gaG>gaA	p.E78E	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	78						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			ATGAGGAAGAGGACTTTTCCT	0.448000														49			23		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102326039	102326039	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:102326039G>A	uc003knt.3	+	14	1920	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	PAM_uc003knw.3_Missense_Mutation_p.G516E|PAM_uc003kns.3_Missense_Mutation_p.G409E|PAM_uc003knu.3_Missense_Mutation_p.G516E|PAM_uc011cuz.2_Missense_Mutation_p.G419E|PAM_uc003knv.3_Missense_Mutation_p.G516E|PAM_uc003knx.1_Missense_Mutation_p.G119E	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	516	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAGGTTTCTGGGGTGGCTCTA	0.408000														14			10		0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19906391	19906391	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:19906391C>T	uc010eci.2	-	3	453	c.305G>A	c.(304-306)aGa>aAa	p.R102K	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.R70K	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TTTTTCATATCTTCTTAGTAT	0.328000														22			10		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480931	32480931	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:32480931G>A	uc003amc.3	+	8	1180	c.930G>A	c.(928-930)gtG>gtA	p.V310V	SLC5A1_uc011alz.2_Silent_p.V183V	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	310					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGTCTCACGTGAAGGGTGGCT	0.512000														40			26		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73483000	73483000	+	Silent	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:73483000G>T	uc003tzw.3	+	32	2254	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	ELN_uc003tzn.3_Silent_p.L715L|ELN_uc003tzy.3_Silent_p.L691L|ELN_uc003tzz.3_Silent_p.L634L|ELN_uc003tzo.3_Silent_p.L649L|ELN_uc003tzp.3_Silent_p.L608L|ELN_uc003tzq.3_Silent_p.L561L|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.L696L|ELN_uc003tzt.3_Silent_p.L702L|ELN_uc003tzu.3_Silent_p.L683L|ELN_uc003tzv.3_Silent_p.L668L|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.L705L|ELN_uc011kff.2_Silent_p.L697L	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	777	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGGCCTGCCTGGGGAAAGCTT	0.582000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							31			18		5.35267e-07	5.38861e-07	1	1	0
TTI2	80185	broad.mit.edu	37	8	33367357	33367358	+	Missense_Mutation	DNP	CC	TT	TT	rs143175380		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:33367357_33367358CC>TT	uc003xjl.4	-	1	1265_1266	c.740_741GG>AA	c.(739-741)agg>aAA	p.R247K	TTI2_uc003xjm.4_Missense_Mutation_p.R247K|TTI2_uc003xjn.1_Missense_Mutation_p.R247K	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant 2, mRNA.	247							binding										CGGGAAGTACCCTTTCCAGATG	0.470000														19			15		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849240	54849240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:54849240C>T	uc002qfj.3	-	3	679	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	LILRA4_uc002qfi.3_Missense_Mutation_p.E142K	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	208	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCACTGGGTTCCGACCACACG	0.557000														20			8		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38820470	38820470	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:38820470C>T	uc021yzh.1	+	40	5576	c.5467_splice	c.e40-1	p.P1823_splice	DNAH8_uc003ooe.2_Splice_Site_p.P1606_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTCTTACAGCCGCATCTCCC	0.393000														31			13		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540720	55540720	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:55540720G>A	uc003xsd.1	+	3	4426	c.4278G>A	c.(4276-4278)agG>agA	p.R1426R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1426					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTCACTAAGGAAGTTTCAGG	0.368000														19			11		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004663	74004663	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:74004663C>T	uc010wss.1	-	21	4917	c.4689G>A	c.(4687-4689)gaG>gaA	p.E1563E	EVPL_uc002jqi.2_Silent_p.E1541E|EVPL_uc010wst.1_Silent_p.E1011E	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1541	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTTGAGCATCTCCCACACGC	0.662000														30			10		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48316016	48316016	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:48316016G>A	uc003toq.2	+	16	6777	c.6753G>A	c.(6751-6753)agG>agA	p.R2251R	ABCA13_uc010kyr.2_Silent_p.R1754R|ABCA13_uc022acp.1_Silent_p.R750R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2251					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACTAGTAGGAAAACAGTTC	0.338000														3			4		0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32800955	32800955	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:32800955C>T	uc011axj.1	+	13	1858	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	CNOT10_uc011axi.1_Missense_Mutation_p.S306F|CNOT10_uc003cfc.1_Missense_Mutation_p.S534F|CNOT10_uc003cfd.1_Missense_Mutation_p.S533F|CNOT10_uc003cfe.1_Missense_Mutation_p.S507F|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_Missense_Mutation_p.S229F	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	534					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TATAGGTGCTCCATACTTGCT	0.428000														236			143		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90427359	90427359	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:90427359G>A	uc001kfg.2	+	2	253	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	LIPF_uc009xtk.3_Missense_Mutation_p.E47K|LIPF_uc001kfh.2_Missense_Mutation_p.E57K|LIPF_uc010qmt.2_Missense_Mutation_p.E57K|LIPF_uc010qmu.2_Missense_Mutation_p.E47K	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	47					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATACCCAAATGAAGAATATGA	0.294000														4			20		0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31540398	31540398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:31540398G>A	uc001uti.3	+	4	528	c.509G>A	c.(508-510)tGg>tAg	p.W170*		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	170																	TCTCTGGAATGGAAAAAGTTA	0.398000														38			10		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100608963	100608963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:100608963C>T	uc010nno.2	-	16	1980	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	BTK_uc004ehf.2_Missense_Mutation_p.D49N|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_Missense_Mutation_p.D25N|BTK_uc010nnm.2_Missense_Mutation_p.D119N|BTK_uc004ehg.2_Missense_Mutation_p.D549N|BTK_uc010nnn.2_Missense_Mutation_p.D373N|BTK_uc004ehh.1_Non-coding_Transcript	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	549	Protein kinase.		F -> S (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTGTATTCATCATCCAGGACA	0.473000									Agammaglobulinemia, X-linked					45			27		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70190628	70190628	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:70190628T>G	uc002eyf.1	+	18	3443	c.2486T>G	c.(2485-2487)gTg>gGg	p.V829G	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.V729G|PDPR_uc002eyg.1_Missense_Mutation_p.V496G|PDPR_uc002eyh.2_Missense_Mutation_p.V174G|PDPR_uc010vls.1_Missense_Mutation_p.V174G|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	829					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAAGAGCAAGTGGTGACAGCA	0.567000														50			16		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191399	66191399	+	Silent	SNP	C	T	T	rs144417328	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:66191399C>T	uc001ohx.1	+	6	1214	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	NPAS4_uc010rpc.1_Silent_p.F136F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	346					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGCCCTCATTCCCTGAAAACA	0.582000														107			53		0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75167500	75167500	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:75167500C>T	uc011cbk.2	+	7	1045	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	282					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			GAACACCCTTCTGGCAGCTAA	0.378000														8			9		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6265382	6265382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:6265382G>A	uc001mco.3	+	5	1586	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	CNGA4_uc010raa.2_3'UTR|CNGA4_uc001mcn.3_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	491					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCCCTGCAGGAGGCCACAGA	0.557000														25			13		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50248503	50248503	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:50248503C>T	uc002ppm.3	-	6	1154	c.1143G>A	c.(1141-1143)cgG>cgA	p.R381R		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	381							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCTGCAAGTCCCGCGCCGTCT	0.687000														32			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3432543	3432543	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:3432543G>A	uc022aqr.1	-	9	1658	c.1268C>T	c.(1267-1269)aCc>aTc	p.T423I		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	424	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTAGGGGAGGTAATGACGCC	0.502000														21			10		0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136046515	136046515	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:136046515C>T	uc011bmc.2	+	13	1450	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	PCCB_uc003eqz.1_Missense_Mutation_p.L447F|PCCB_uc003eqy.2_Missense_Mutation_p.L447F	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	447	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CTCTAAGCACCTTTGTGGTGA	0.512000														16			18		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643191	94643191	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:94643191C>T	uc001dqj.4	-	21	3251	c.2882G>A	c.(2881-2883)gGa>gAa	p.G961E	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.G527E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	961					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)		ATCACATTTTCCTAACGCATT	0.368000														17			16		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100238392	100238392	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:100238392G>A	uc003uvv.1	-	2	459	c.390C>T	c.(388-390)ttC>ttT	p.F130F	TFR2_uc003uvw.1_Silent_p.F130F	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	130					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCCCTGGTGGAAATCCAGGT	0.622000														19			15		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117122291	117122291	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:117122291C>G	uc001egq.1	-	10	3822	c.3117G>C	c.(3115-3117)gaG>gaC	p.E1039D	IGSF3_uc001egr.1_Missense_Mutation_p.E1019D	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	1019	Ig-like C2-type 8.					integral to membrane		p.D1039D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637000														13			3		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644123	207644123	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:207644123G>A	uc001hfw.3	+	6	1383	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CR2_uc001hfv.3_Missense_Mutation_p.E422K|CR2_uc009xch.3_Missense_Mutation_p.E422K|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	422	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.E422K(2)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGGCAAAAGGAAGATAGACA	0.423000														24			9		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87424091	87424091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:87424091C>T	uc003ydt.3	+	8	1329	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	WWP1_uc010mai.3_Missense_Mutation_p.T126I	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	350	WW 1.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AACACAGAAACCTTGCCATCA	0.398000														11			9		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128864240	128864240	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:128864240G>A	uc003kvb.1	+	5	1180	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	394	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCATCATGGAGAAAAAATGCT	0.353000														27			12		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811619	5811619	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:5811619G>A	uc010ndi.3	-	6	2265	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	NLGN4X_uc004crp.3_Missense_Mutation_p.P584S|NLGN4X_uc010ndh.3_Missense_Mutation_p.P564S|NLGN4X_uc004crq.3_Missense_Mutation_p.P564S|NLGN4X_uc004crr.3_Missense_Mutation_p.P564S|NLGN4X_uc010ndj.3_Missense_Mutation_p.P564S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	564					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGTCTTTGGGATTATACTTG	0.458000														45			29		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70988446	70988446	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:70988446G>A	uc001swb.4	-	3	693	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PTPRB_uc010sto.2_Silent_p.S221S|PTPRB_uc010stp.2_Silent_p.S221S|PTPRB_uc001swc.4_Silent_p.S439S|PTPRB_uc001swa.4_Silent_p.S439S|PTPRB_uc001swd.4_Silent_p.S438S|PTPRB_uc009zrr.2_Silent_p.S318S|PTPRB_uc001swe.3_Silent_p.S439S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	221	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGGGACCAGGAAATCAGGA	0.433000														19			18		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118772714	118772714	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:118772714G>A	uc001pug.3	-	5	2703	c.1738C>T	c.(1738-1740)Ctg>Ttg	p.L580L	BCL9L_uc009zal.3_Silent_p.L575L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	580					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCCCCCGCAGCTGCGCACCC	0.652000														15			9		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46567197	46567197	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:46567197G>A	uc001ncv.2	-	4	822	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.P170S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P170S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P170S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P170S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P170S	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	170					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACAGCAAAGGGTTCCCGTCGA	0.562000														32			27		0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650822	55650822	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:55650822C>T	uc004duo.3	+	0	990	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	226					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GACAGCATTTCCCCTTTTTCT	0.507000														35			19		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788238	3788238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:3788238G>A	uc010sen.1	-	5	939	c.367C>T	c.(367-369)Cca>Tca	p.P123S	EFCAB4B_uc001qmj.2_Missense_Mutation_p.P123S	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	123					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCCTGACTTGGGTTATTCTGG	0.547000														17			24		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137271862	137271862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:137271862C>T	uc003vtt.3	-	12	1407	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	DGKI_uc003vtu.3_Missense_Mutation_p.R169Q	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	469	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTTGAGAGTTCGAGCCAGGTC	0.552000														31			22		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697286	153697286	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:153697286C>T	uc004flm.3	+	24	4581	c.4408C>T	c.(4408-4410)Cgt>Tgt	p.R1470C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1470					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGCTCATCCGTCAGCAGAT	0.617000														34			28		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560108	33560108	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:33560108G>A	uc001rll.1	-	2	990	c.693C>T	c.(691-693)atC>atT	p.I231I	SYT10_uc009zju.1_Silent_p.I41I	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	231						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTTTCCCACAGATTTTGACAT	0.383000														20			10		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120833873	120833873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:120833873G>A	uc003eec.4	+	5	712	c.572G>A	c.(571-573)gGa>gAa	p.G191E	STXBP5L_uc011bji.2_Missense_Mutation_p.G191E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	191					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTCTTTCTGGATATGTTATC	0.318000														21			11		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3856009	3856009	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:3856009C>T	uc003zhx.1	-	9	3186	c.2473_splice	c.e9+1	p.G825_splice	GLIS3_uc010mhf.1_Splice_Site_p.G219_splice|GLIS3_uc003zhv.1_Splice_Site|GLIS3_uc003zhw.1_Splice_Site_p.G670_splice|GLIS3_uc003zhy.1_Missense_Mutation_p.G603S	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	670					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCTTGCTTACCATGGACATGG	0.443000														20			20		0	0	1	0	0
RPS13	6207	broad.mit.edu	37	11	17097072	17097072	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:17097072G>A	uc001mmp.3	-	3	282	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	SNORD14_uc021qei.1_5'Flank	NM_001017	NP_001008	P62277	RS13_HUMAN	Homo sapiens ribosomal protein S13 (RPS13), mRNA.	84					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						TCTTCAGGAAGATCAGGAGCA	0.373000														14			12		0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100062756	100062756	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:100062756G>A	uc003hun.3	-	2	274	c.198C>T	c.(196-198)atC>atT	p.I66I	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Silent_p.I85I	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	66					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CATGGCCAACGATCACTGGGA	0.428000														14			15		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140955826	140955826	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140955826C>T	uc003llb.4	-	13	1573	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	DIAPH1_uc003llc.4_Missense_Mutation_p.E469K|DIAPH1_uc021yep.1_Missense_Mutation_p.E478K|DIAPH1_uc021yeq.1_Missense_Mutation_p.E469K|DIAPH1_uc010jgc.1_5'Flank	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	478					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTGGCTTCAGATTTCTCC	0.348000														29			14		0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350022	71350022	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:71350022C>T	uc010nlh.2	-	0	1369	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.D457N	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	457										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TGGGCCTCATCCAGTGGCTCC	0.562000														45			32		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150908139	150908139	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:150908139C>T	uc004fey.1	+	3	533	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	103					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGAACTCCAGACTGTGA	0.552000														25			14		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408655	80408655	+	Missense_Mutation	SNP	C	T	T	rs151071760		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:80408655C>T	uc003kha.2	+	13	2115	c.2065C>T	c.(2065-2067)Cct>Tct	p.P689S	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	689	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R688S(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATACAAGAGGCCTTTCACCTC	0.493000														18			28		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483681	59483681	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:59483681G>A	uc002lih.1	-	1	428	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	RNF152_uc021ula.1_Nonsense_Mutation_p.Q6*	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	6					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.Q6fs*37(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGAGAGTCCTGGGACAGCGTC	0.587000														39			39		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507510	155507510	+	Silent	SNP	G	T	T	rs6051		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:155507510G>T	uc003iod.1	-	4	1129	c.1071C>A	c.(1069-1071)acC>acA	p.T357T	FGA_uc003ioe.1_Silent_p.T357T|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	357					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCAGGTTCCGGTACTACCAG	0.552000														52			34		8.4185e-14	8.5481e-14	1	1	0
OGFOD2	79676	broad.mit.edu	37	12	123463464	123463464	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:123463464G>A	uc001uea.1	+	5	717	c.696G>A	c.(694-696)ctG>ctA	p.L232L	OGFOD2_uc001uds.1_Silent_p.L68L|OGFOD2_uc001udv.1_Silent_p.L68L|OGFOD2_uc001udt.1_Silent_p.L68L|OGFOD2_uc001udu.1_Silent_p.L68L|OGFOD2_uc009zxs.1_Silent_p.L68L|OGFOD2_uc001udw.1_Silent_p.L68L|OGFOD2_uc001udy.1_Silent_p.L68L|OGFOD2_uc001udz.1_Silent_p.L172L|OGFOD2_uc001ueb.1_Silent_p.L68L|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA.	232	Fe2OG dioxygenase.						L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	ACCTGGAGCTGGGCTGCCACT	0.637000														25			22		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940318	144940318	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:144940318G>A	uc003zaa.1	-	0	7117	c.7104C>T	c.(7102-7104)ttC>ttT	p.F2368F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2368						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCTCGTCGAAGTAGCCGC	0.682000														410			12		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49604462	49604462	+	Missense_Mutation	SNP	A	T	T	rs139234886	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:49604462A>T	uc003ozk.4	-	0	126	c.64T>A	c.(64-66)Tta>Ata	p.L22I	RHAG_uc010jzl.3_Missense_Mutation_p.L22I|RHAG_uc010jzm.3_Missense_Mutation_p.L22I	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	22					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.G21G(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCAACAAATAATCCAAATAAA	0.433000														51			27		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376908	18376908	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:18376908G>A	uc010ebn.2	-	2	1658	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	KIAA1683_uc002nin.2_Missense_Mutation_p.S481F|KIAA1683_uc010xqe.1_Missense_Mutation_p.S435F	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	481						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTCCTCTGGGATGAAGTCTT	0.602000														40			25		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73567159	73567159	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:73567159C>T	uc001jrx.4	+	55	8685	c.8295C>T	c.(8293-8295)atC>atT	p.I2765I	CDH23_uc001jsg.4_Silent_p.I528I|CDH23_uc001jsh.4_Silent_p.I528I|CDH23_uc001jsi.4_Silent_p.I528I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2768	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTACTTCATCGCAGGTGGGG	0.627000														6			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262982	140262982	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140262982C>T	uc003lif.2	+	0	1129	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.R377C|PCDHAC2_uc003lid.3_Missense_Mutation_p.R377C	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	392	Cadherin 4.				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)			TGTGTCCGATCGTGACTCTGG	0.507000														53			31		0	0	1	0	0
FBXL16	146330	broad.mit.edu	37	16	746973	746973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:746973C>T	uc021taa.1	-	1	761	c.433G>A	c.(433-435)Gag>Aag	p.E145K	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	145										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				TTGTAGAGCTCCTTGGCATGC	0.642000														26			17		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827404	96827404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:96827404C>T	uc001kkb.3	-	1	308	c.213G>A	c.(211-213)atG>atA	p.M71I	CYP2C8_uc010qoa.2_Missense_Mutation_p.M1I|CYP2C8_uc010qoc.2_Intron|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_Missense_Mutation_p.M1I|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	71					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.G70D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTATGGGATTCATGCCAAAAT	0.413000														7			11		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570642	104570642	+	Splice_Site	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:104570642T>C	uc001yop.2	+	8	839	c.754_splice	c.e8-1	p.V252_splice	ASPG_uc001yoo.2_Splice_Site_p.V280_splice|ASPG_uc001yoq.2_Splice_Site_p.V252_splice|ASPG_uc001yor.2_Splice_Site_p.V252_splice	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	252	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCCCACAGGTTCGGGCCTTC	0.672000														15			4		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2427956	2427956	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:2427956G>A	uc010qxl.2	-	20	3195	c.3186C>T	c.(3184-3186)ttC>ttT	p.F1062F	TRPM5_uc001lwm.4_Silent_p.F1062F|TRPM5_uc009ydn.3_Silent_p.F1064F	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	1062						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCTTGCTCAGGAAGTTCTCCT	0.617000														56			19		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806849	46806849	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:46806849C>T	uc011dwh.1	+	12	2309	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	MEP1A_uc010jzh.1_Silent_p.I739I|MEP1A_uc011dwg.1_Silent_p.I461I|MEP1A_uc011dwi.1_Silent_p.I639I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	739					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCATCGCCATCCTTTCCCAAA	0.597000														42			27		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160276187	160276187	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:160276187G>A	uc001fvv.4	-	14	1793	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	COPA_uc009wti.3_Nonsense_Mutation_p.R467*|COPA_uc009wtj.1_Nonsense_Mutation_p.R413*	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	467					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCGCATCTCGAAGCAGGAGA	0.493000														39			27		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038976	41038976	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:41038976C>T	uc003jmj.4	-	20	2566	c.2076G>A	c.(2074-2076)ggG>ggA	p.G692G	HEATR7B2_uc003jmi.4_Silent_p.G247G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	692							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						GGCTCTTTTTCCCAGAAAAAA	0.438000														20			9		0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105477549	105477549	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:105477549C>T	uc021sep.1	-	0	718	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CDCA4_uc001yqa.2_Missense_Mutation_p.E240K|CDCA4_uc001yqb.2_Missense_Mutation_p.E240K	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	240						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GCTCAGGTCTCCACCAGGATC	0.692000														11			5		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377581	230377581	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:230377581C>T	uc002vpv.3	-	5	1212	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	DNER_uc010zly.1_Silent_p.R83R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	355	EGF-like 4.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.Q354H(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGCAAGGTTTCCTCTGGCAAG	0.438000														11			24		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067950	11067950	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:11067950C>T	uc010hdq.3	+	9	1394	c.983C>T	c.(982-984)tCg>tTg	p.S328L		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	328					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGCATCAATTCGTGCACCAGC	0.577000														54			34		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286272	57286272	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:57286272C>T	uc002qnr.2	-	10	1750	c.1368G>A	c.(1366-1368)cgG>cgA	p.R456R	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Silent_p.R252R|PEG3_uc010ygq.1_Silent_p.R252R|PEG3_uc010etp.2_Silent_p.R456R|PEG3_uc010ygs.1_Silent_p.R456R|PEG3_uc002qnq.2_Silent_p.R456R	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	594					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGTCATGTTTCCGCTGATAAC	0.463000														12			8		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70981405	70981405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:70981405G>A	uc003pfg.4	-	13	1255	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	COL9A1_uc003pfe.4_5'UTR|COL9A1_uc003pff.4_Missense_Mutation_p.P123S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	366	Triple-helical region (COL3).				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						GCTGTCCCAGGAGGACCCTGA	0.368000														8			11		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481345	140481345	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140481345C>T	uc003lio.3	+	0	1112	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	371	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGTGTTTCTGATCTAGAC	0.458000														51			15		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160758022	160758022	+	Silent	SNP	G	A	A	rs79319310		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:160758022G>A	uc003lys.1	-	8	1163	c.945C>T	c.(943-945)ttC>ttT	p.F315F	GABRB2_uc011deh.1_Silent_p.F154F|GABRB2_uc003lyr.1_Silent_p.F315F|GABRB2_uc003lyt.1_Silent_p.F315F|GABRB2_uc021yhg.1_Silent_p.F252F	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	315					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCATGAAAACGAAGACAAAGC	0.512000														33			22		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2465038	2465038	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:2465038G>A	uc002wge.1	-	5	1057	c.569C>T	c.(568-570)tCa>tTa	p.S190L	ZNF343_uc010gao.1_Missense_Mutation_p.S190L|ZNF343_uc002wgd.1_Missense_Mutation_p.S100L	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GAATGCCCTTGAGGTTTCTCT	0.517000														22			18		0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41617376	41617376	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:41617376C>T	uc003oqq.4	+	3	486	c.279C>T	c.(277-279)ccC>ccT	p.P93P	MDFI_uc010jxn.3_Silent_p.P93P	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	93					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			AGGGGAACCCCTTGGGCTGCA	0.647000														255			70		0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152225435	152225436	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:152225435_152225436AC>TT	uc022cho.1	+	0	23_24	c.23_24AC>TT	c.(22-24)gac>gTT	p.D8V	PNMA3_uc004fhc.2_Missense_Mutation_p.D8V|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	8					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ttgttacaggactggtgtcggg	0.569000														48			25		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47755315	47755315	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:47755315G>A	uc022bvq.1	+	3	502	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ZNF81_uc010nhy.2_Missense_Mutation_p.E85K	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	85	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATTGGAAGGGGAAGCCCCACA	0.493000														10			3		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212923	26212923	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:26212923C>T	uc022buc.1	+	0	960	c.960C>T	c.(958-960)atC>atT	p.I320I	MAGEB6_uc004dbr.3_Silent_p.I320I	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	320	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGATGGGATCCTGCATTCAA	0.493000														99			65		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093414	30093414	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:30093414G>A	uc010dmc.3	+	0		c.1789G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CTCCCTTGCTGAACCCTGAGA	0.532000														50			42		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58580319	58580319	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:58580319C>T	uc002env.3	-	28	4205	c.3912G>A	c.(3910-3912)aaG>aaA	p.K1304K	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.K1299K|CNOT1_uc002enx.3_Silent_p.K1304K|CNOT1_uc010vik.2_Silent_p.K261K	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1304					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GATCTTTATCCTTTAGGAGGT	0.423000														24			16		0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236701	30236701	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:30236701C>T	uc022buf.1	+	0	4	c.4C>T	c.(4-6)Cct>Tct	p.P2S	MAGEB2_uc004dbz.3_Missense_Mutation_p.P2S	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	2							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCATCATGCCTCGTGGTCA	0.527000														17			4		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43930616	43930616	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:43930616C>T	uc003bdy.2	-	29	4499	c.4185G>A	c.(4183-4185)aaG>aaA	p.K1395K	EFCAB6_uc003bdz.2_Silent_p.K1243K|EFCAB6_uc010gzi.2_Silent_p.K1243K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1395	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGAGCTTTCCTTTGCTTTTA	0.473000														34			24		0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67161204	67161204	+	Missense_Mutation	SNP	C	T	T	rs140448721		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:67161204C>T	uc001okr.3	+	4	485	c.392C>T	c.(391-393)tCc>tTc	p.S131F	RAD9A_uc021qmg.1_Missense_Mutation_p.S55F	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	131					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GACTGTGAGTCCCTGCAGGCC	0.672000								Other conserved DNA damage response genes						15			7		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280866	238280866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:238280866C>T	uc002vwl.2	-	8	4079	c.3794G>A	c.(3793-3795)gGc>gAc	p.G1265D	COL6A3_uc002vwo.2_Missense_Mutation_p.G1059D|COL6A3_uc010znj.1_Missense_Mutation_p.G658D|COL6A3_uc002vwq.3_Missense_Mutation_p.G1059D|COL6A3_uc002vwr.3_Missense_Mutation_p.G858D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1265	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGTCAAAGCCCACGTCCAG	0.582000														5			13		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151112519	151112519	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:151112519G>C	uc003eyp.3	+	36	5708	c.5579G>C	c.(5578-5580)cGg>cCg	p.R1860P	MED12L_uc011bnz.2_Missense_Mutation_p.R1720P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1860					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGCTACAGCGGCGCTCAGGC	0.527000														58			31		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285750	248285750	+	Missense_Mutation	SNP	G	A	A	rs140949928		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:248285750G>A	uc001idy.1	+	0	313	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TGGGTCTCGGGAAATAGCCCA	0.403000														84			53		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593820	123593820	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:123593820G>A	uc003vle.3	+	2	635	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.E66K|SPAM1_uc022aks.1_Missense_Mutation_p.E66K|SPAM1_uc003vlf.4_Missense_Mutation_p.E66K|SPAM1_uc010lku.3_Missense_Mutation_p.E66K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	66					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AAAATTTGATGAGCCACTAGA	0.438000														23			15		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38126760	38126760	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:38126760C>T	uc002htl.1	+	3	536	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	GSDMA_uc002htm.1_Silent_p.L140L	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	140					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCACCCATTCCTGAAGGAGAT	0.567000														8			16		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362679	10362679	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:10362679G>A	uc002gmn.3	-	14	1587	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	492	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(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTGGTGGTTGAAAAACTGTT	0.473000														17			31		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196577388	196577388	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:196577388G>A	uc001gtd.1	-	0	112	c.52C>T	c.(52-54)Cga>Tga	p.R18*	KCNT2_uc001gte.1_Nonsense_Mutation_p.R18*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.R18*|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Nonsense_Mutation_p.R18*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.R18*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	18						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGCAAATCTCGAAACCTGTAC	0.493000														30			18		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520473	52520473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:52520473C>T	uc001wzo.3	-	4	1487	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	NID2_uc010tqs.2_Missense_Mutation_p.G418E|NID2_uc010tqt.1_Missense_Mutation_p.G418E|NID2_uc001wzp.3_Missense_Mutation_p.G418E	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	418						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGATGCTTCCGTTTTCGGG	0.557000														40			17		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7915258	7915258	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:7915258G>A	uc002wmw.1	-	1	186	c.162C>T	c.(160-162)ctC>ctT	p.L54L	HAO1_uc010gbu.3_Silent_p.L54L	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	54	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAACATTCCGGAGCATCCTTG	0.403000														21			13		0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100277365	100277365	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:100277365C>T	uc003dua.1	+	4	767	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	TMEM45A_uc003dtz.1_Missense_Mutation_p.R174W	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	174						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						GTTCCTTGTTCGGAACAATGT	0.512000														65			47		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247204	142247204	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:142247204G>A	uc003vyd.4	-	1	277	c.252C>T	c.(250-252)ttC>ttT	p.F84F	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGACTGCAAAGAACCGATCGT	0.567000														39			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140734830	140734830	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140734830G>A	uc003ljq.2	+	0	63	c.63G>A	c.(61-63)ggG>ggA	p.G21G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.G21G	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	0					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)			TTCTCCTGGGGGTTCTGGTGG	0.617000														41			27		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3733899	3733899	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:3733899C>T	uc010xhv.2	+	5	923	c.923C>T	c.(922-924)tCg>tTg	p.S308L	TJP3_uc010xhs.2_Missense_Mutation_p.S289L|TJP3_uc010xht.2_Missense_Mutation_p.S253L|TJP3_uc010xhu.2_Missense_Mutation_p.S298L|TJP3_uc010xhw.2_Missense_Mutation_p.S308L	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	289						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGACAGCTCGCCATTGGAG	0.577000														23			13		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3160684	3160684	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:3160684G>A	uc001akf.3	+	2	503	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	PRDM16_uc001ake.3_Missense_Mutation_p.E141K|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.E141K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	141	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTCGCCCCAGGAAGGCTGCAT	0.562000			T	EVI1	"""MDS, AML"""									20			15		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471397	146471397	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:146471397C>T	uc003weu.2	+	1	648	c.132C>T	c.(130-132)ccC>ccT	p.P44P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	44	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P44L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGACTCCCCCATGTGGCTT	0.438000										HNSCC(39;0.1)				19			6		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43656435	43656435	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:43656435G>A	uc004dfz.4	-	5	731	c.555C>T	c.(553-555)ttC>ttT	p.F185F	MAOB_uc011mkx.2_Silent_p.F169F|MAOB_uc011mky.2_Silent_p.F169F	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	185					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CATACCACAGGAACCAGAGAG	0.493000														23			18		0	0	1	0	0
SLC7A5P1	81893	broad.mit.edu	37	16	29624556	29624556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:29624556C>T	uc002dtl.1	-	0	483	c.406G>A	c.(406-408)Gag>Aag	p.E136K	LOC440354_uc002dsp.3_Non-coding_Transcript|BOLA2_uc010bzb.1_Intron					Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1 (SLC7A5P1), non-coding RNA.																		ACGAGCAGCTCGATCCAGAGC	0.647000														22			9		0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83793119	83793119	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:83793119G>A	uc003hnh.3	-	6	940	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	SEC31A_uc003hne.3_5'Flank|SEC31A_uc011ccl.2_Missense_Mutation_p.R254C|SEC31A_uc003hnl.3_Missense_Mutation_p.R254C|SEC31A_uc003hng.3_Missense_Mutation_p.R254C|SEC31A_uc011ccm.2_Missense_Mutation_p.R249C|SEC31A_uc003hni.3_Missense_Mutation_p.R254C|SEC31A_uc003hnk.3_Missense_Mutation_p.R254C|SEC31A_uc003hnf.3_Missense_Mutation_p.R254C|SEC31A_uc011ccn.2_Missense_Mutation_p.R254C|SEC31A_uc003hnm.3_Missense_Mutation_p.R254C|SEC31A_uc003hnn.2_Missense_Mutation_p.R254C|SEC31A_uc003hno.3_Missense_Mutation_p.R254C	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	254	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCAGGACACGAAGTGGAGAG	0.463000														17			6		0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156280936	156280936	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:156280936G>A	uc001fol.2	-	11	1437	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	CCT3_uc010phj.2_Silent_p.L356L|CCT3_uc010phk.2_Silent_p.L356L|CCT3_uc001fon.2_Silent_p.L364L|CCT3_uc010phl.2_Silent_p.L356L	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	402					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	p.L402L(2)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGGGTCCAGGAGAACATTGC	0.532000														15			16		0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33746006	33746006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:33746006C>T	uc001bxc.1	+	4	801	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTGTAGTCCCCTATCCCAT	0.672000														12			6		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46868953	46868953	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:46868953G>A	uc021tzm.1	-	8	1046	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	TTLL6_uc002iob.3_Silent_p.T30T|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.T90T|TTLL6_uc002iod.3_Silent_p.T184T	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	289	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATGCACTGAAGGTGGAGAGCT	0.567000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			20		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20075711	20075711	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:20075711C>T	uc003wzp.3	+	12	1528	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	ATP6V1B2_uc003wzq.1_5'Flank	NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	438					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TGAAAGCTGTCGTTGGAGAAG	0.443000														43			27		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197102509	197102509	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:197102509C>T	uc001gtu.3	-	5	2647	c.2390G>A	c.(2389-2391)cGa>cAa	p.R797Q	ASPM_uc001gtv.3_Missense_Mutation_p.R797Q|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	797					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTATCTTTTCGAACAATTAA	0.348000														12			9		0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115151998	115151999	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:115151998_115151999CC>TT	uc003krg.3	-	0	407_408	c.96_97GG>AA	c.(94-99)gaggtg>gaAAtg	p.V33M		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	33					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	ATGGCCTGCACCTCCTCTACAT	0.589000														76			70		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580847	580847	+	Missense_Mutation	SNP	G	A	A	rs143489830		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:580847G>A	uc002kko.1	+	0	479	c.439G>A	c.(439-441)Gac>Aac	p.D147N		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	147	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGAGATGATCGACGAAGCTGA	0.537000														36			13		0	0	1	0	0
C18orf1	753	broad.mit.edu	37	18	13621234	13621234	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:13621234G>A	uc002ksa.2	+	4	968	c.300G>A	c.(298-300)ccG>ccA	p.P100P	C18orf1_uc002ksb.2_Silent_p.P100P|C18orf1_uc002kse.2_Silent_p.P63P|C18orf1_uc002ksf.2_Silent_p.P63P|C18orf1_uc002ksg.1_Silent_p.P23P|C18orf1_uc002ksh.1_Silent_p.P42P|C18orf1_uc002ksi.1_Silent_p.P42P	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	100						integral to membrane|plasma membrane		p.P100P(2)|p.R99C(2)|p.P63P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		TCAACCGCCCGAACCAGAGCC	0.622000														49			26		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069941	153069941	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:153069941C>T	uc004fja.1	-	7	1445	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PDZD4_uc004fiy.1_Missense_Mutation_p.E318K|PDZD4_uc004fiz.1_Missense_Mutation_p.E393K|PDZD4_uc004fix.2_Missense_Mutation_p.E297K|PDZD4_uc011mze.1_Missense_Mutation_p.E284K|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	393						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGCTCTCGTTGCGGTTG	0.637000														28			13		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44665919	44665919	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:44665919C>T	uc010zxl.1	+	5	652	c.576C>T	c.(574-576)tcC>tcT	p.S192S	SLC12A5_uc002xra.2_Silent_p.S169S|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.S169S	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	192					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACATGATTTCCAGGTCTCTGG	0.597000														36			16		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640456	3640456	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:3640456G>A	uc002cvp.2	-	11	3810	c.3183C>T	c.(3181-3183)tcC>tcT	p.S1061S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1061	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R1060W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTCCGCCACGGGACCGGGGTG	0.637000								Direct reversal of damage						74			36		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156454	70156454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:70156454C>T	uc003hej.3	+	4	1237	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	412					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAGGGAGCAGCTGTTAGACTG	0.443000														16			45		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259034	89259034	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:89259034G>A	uc003dqy.3	+	2	403	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	EPHA3_uc003dqx.1_Missense_Mutation_p.E60K|EPHA3_uc021xbf.1_Missense_Mutation_p.E60K	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	60						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGTGTGGATGAACATTACAC	0.448000										TSP Lung(6;0.00050)				14			7		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115582806	115582806	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:115582806G>A	uc004eqi.3	+	7	1261	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	377					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CATATATCTGGAAAGGAAGTT	0.323000														34			23		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107698335	107698335	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:107698335C>T	uc010ljo.1	-	23	3405	c.3321G>A	c.(3319-3321)ggG>ggA	p.G1107G	LAMB4_uc003vey.2_Silent_p.G1107G|LAMB4_uc010ljp.1_Silent_p.G76G	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1107	Laminin EGF-like 12.				cell adhesion	basement membrane		p.G1106S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCAACGTTTCCCGCCGTAAC	0.428000														13			12		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696338	48696338	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:48696338C>T	uc002irk.1	+	32	6122	c.5750C>T	c.(5749-5751)tCa>tTa	p.S1917L	CACNA1G_uc002irj.1_Missense_Mutation_p.S1883L|CACNA1G_uc002irl.1_Missense_Mutation_p.S1894L|CACNA1G_uc002irm.1_Missense_Mutation_p.S1883L|CACNA1G_uc002irn.1_Missense_Mutation_p.S1876L|CACNA1G_uc002iro.1_Missense_Mutation_p.S1883L|CACNA1G_uc002irp.1_Missense_Mutation_p.S1917L|CACNA1G_uc002irq.1_Missense_Mutation_p.S1894L|CACNA1G_uc002irr.1_Missense_Mutation_p.S1917L|CACNA1G_uc002irs.1_Missense_Mutation_p.S1906L|CACNA1G_uc002irt.1_Missense_Mutation_p.S1899L|CACNA1G_uc002iru.1_Missense_Mutation_p.S1883L|CACNA1G_uc002irv.1_Missense_Mutation_p.S1906L|CACNA1G_uc002irw.1_Missense_Mutation_p.S1894L|CACNA1G_uc002irx.1_Missense_Mutation_p.S1830L|CACNA1G_uc002iry.1_Missense_Mutation_p.S1819L|CACNA1G_uc002isg.1_Missense_Mutation_p.S1778L|CACNA1G_uc002ish.1_Missense_Mutation_p.S1785L|CACNA1G_uc002isi.1_Missense_Mutation_p.S1773L|CACNA1G_uc002irz.1_Missense_Mutation_p.S1823L|CACNA1G_uc002isa.1_Missense_Mutation_p.S1796L|CACNA1G_uc002isd.1_Missense_Mutation_p.S1805L|CACNA1G_uc002isb.1_Missense_Mutation_p.S1837L|CACNA1G_uc002isc.1_Missense_Mutation_p.S1819L|CACNA1G_uc002ise.1_Missense_Mutation_p.S1785L|CACNA1G_uc002isf.1_Missense_Mutation_p.S1812L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1917					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACGCGAGATCAGCCTCCCAC	0.711000														16			9		0	0	1	0	0
PHF15	23338	broad.mit.edu	37	5	133909384	133909384	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:133909384C>T	uc003kzk.2	+	9	1570	c.1532C>T	c.(1531-1533)gCc>gTc	p.A511V	PHF15_uc011cxt.1_Missense_Mutation_p.A495V|PHF15_uc003kzl.2_Missense_Mutation_p.A495V|PHF15_uc003kzm.2_Missense_Mutation_p.A495V|PHF15_uc003kzn.2_Intron|PHF15_uc003kzo.1_Missense_Mutation_p.A495V|PHF15_uc003kzp.3_Missense_Mutation_p.A203V	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	495					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.L510F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACGAAACACGCCATCTGCAAA	0.517000														21			16		0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605798	1605798	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:1605798C>T	uc001ltu.1	-	0	716	c.682G>A	c.(682-684)Gga>Aga	p.G228R	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	228	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGCAGCCTCCCTTAGACCCC	0.642000														63			41		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67378902	67378902	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:67378902C>T	uc001omj.2	+	6	1095	c.942C>T	c.(940-942)ctC>ctT	p.L314L	NDUFV1_uc010rpv.1_Silent_p.L213L|NDUFV1_uc001omk.4_Silent_p.L305L|NDUFV1_uc001oml.2_Silent_p.L307L|NDUFV1_uc009yrz.1_Intron|NDUFV1_uc010rpw.1_Silent_p.L23L	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	314					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGGACAACCTCCTTGCTGTGA	0.647000														17			14		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792622	143792622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:143792622C>T	uc011kty.2	+	0	422	c.422C>T	c.(421-423)aCt>aTt	p.T141I		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGAGTGTGCACTGTCCTGGCC	0.448000														56			20		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103586	55103586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:55103586C>T	uc002lgo.3	+	0	670	c.638C>T	c.(637-639)cCc>cTc	p.P213L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	213					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CTCTACAGTCCCTACAAGGAG	0.687000														12			7		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117027741	117027741	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:117027741C>T	uc011lxl.2	+	31	3379	c.3379C>T	c.(3379-3381)Ctc>Ttc	p.L1127F	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1127	Collagen-like 9.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACCAAGGGCCTCCCAGGAGA	0.612000														8			7		0	0	1	0	0
STX16	8675	broad.mit.edu	37	20	57244505	57244505	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:57244505C>T	uc002xzi.3	+	4	1306	c.552C>T	c.(550-552)ctC>ctT	p.L184L	STX16_uc021wfi.1_Silent_p.L131L|STX16_uc002xzk.3_Silent_p.L167L|STX16_uc010zzq.2_Intron|STX16_uc002xzl.3_Intron|STX16_uc002xzm.3_Silent_p.L180L|STX16_uc002xzj.3_Silent_p.L163L|STX16_uc021wfj.1_Intron	NM_001001433	NP_001191797	O14662	STX16_HUMAN	Homo sapiens syntaxin 16 (STX16), transcript variant 1, mRNA.	184					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane|microsome	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CAGGCTACCTCAAACGTGAGT	0.542000														10			4		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41550196	41550196	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:41550196G>A	uc003xok.3	-	30	3912	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.F592F|ANK1_uc003xoi.3_Silent_p.F1276F|ANK1_uc003xoj.3_Silent_p.F1276F|ANK1_uc003xol.3_Silent_p.F1276F|ANK1_uc003xom.3_Silent_p.F1317F	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1276					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACCTCCACGAAGTTCTCAT	0.577000														201			143		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73044609	73044609	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:73044609C>T	uc004ebn.2	+	0		c.32570C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTAGCTCTTTCCTGGTTACCT	0.328000														13			17		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436590	66436590	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:66436590C>T	uc002eom.4	+	11	2029	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	625					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GCGGCGGCTCCGGAAGCAGGC	0.701000														10			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2808668	2808668	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:2808668C>T	uc022aqr.1	-	65	10559	c.10169G>A	c.(10168-10170)aGc>aAc	p.S3390N	CSMD1_uc011kwj.2_Missense_Mutation_p.S2705N|CSMD1_uc010lrg.3_Missense_Mutation_p.S1282N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3391						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGAGGCTTCGCTGAAGGTGGC	0.463000														7			4		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062171	76062171	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:76062171G>A	uc001oxh.1	-	4	2023	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S	PRKRIR_uc021qnn.1_Missense_Mutation_p.P500S|PRKRIR_uc010rrz.1_Missense_Mutation_p.P500S	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	675					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TACACATTAGGAAAAAACTTG	0.428000														29			19		0	0	1	0	0
SELO	83642	broad.mit.edu	37	22	50649165	50649166	+	Silent	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:50649165_50649166CC>TT	uc021wry.1	+	4	1234_1235	c.1176_1177CC>TT	c.(1174-1179)gccctg>gcTTtg	p.392_393AL>AL	SELO_uc010hap.3_Silent_p.203_204AL>AL|SELO_uc003bjy.3_Silent_p.72_73AL>AL	NM_031454		Q9BVL4	SELO_HUMAN	Homo sapiens selenoprotein O (SELO), mRNA.	392													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGCCGAGGCCCTGCAGCCGGA	0.653000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			70		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118344383	118344383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:118344383C>T	uc001pta.3	+	2	2532	c.2509C>T	c.(2509-2511)Cct>Tct	p.P837S	MLL_uc001ptb.3_Missense_Mutation_p.P837S|MLL_uc001psz.1_Missense_Mutation_p.P870S|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	837					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCCTCTCTTCCCTTGGTTTAC	0.507000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									19			14		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587134	26587134	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:26587134G>A	uc001mqw.3	-	2	626	c.353C>T	c.(352-354)tCa>tTa	p.S118L	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.S91L|MUC15_uc001mqy.3_Missense_Mutation_p.S118L	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	91						extracellular region|integral to membrane|plasma membrane		p.S91L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CTCTGCTGATGAGTTACTGGA	0.433000														16			17		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520255	84520255	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:84520255G>A	uc004eeq.3	+	5	1796	c.910G>A	c.(910-912)Gat>Aat	p.D304N	ZNF711_uc004eep.3_Missense_Mutation_p.D304N|ZNF711_uc004eeo.3_Missense_Mutation_p.D304N|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	304					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGAAGAAGATGATATCAGTAA	0.403000														21			21		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52608311	52608311	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:52608311G>A	uc002lfs.3	-	3	293	c.121C>T	c.(121-123)Cga>Tga	p.R41*	CCDC68_uc002lft.3_Nonsense_Mutation_p.R41*	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	41										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGAGTAGTTCGAATCTAGAGA	0.353000														16			4		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697146	109697146	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:109697146G>A	uc004eor.2	+	2	3547	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N	RGAG1_uc011msr.1_Missense_Mutation_p.D1101N	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	1101										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAAAGCCACAGACTCTGGAGA	0.532000														84			46		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152776	100152776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:100152776G>A	uc001kpc.3	-	8	936	c.850C>T	c.(850-852)Cag>Tag	p.Q284*	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	284							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						ATGCCCCCCTGGACGTAGCCC	0.617000														11			35		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110673624	110673624	+	Splice_Site	SNP	C	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:110673624C>G	uc011cft.2	-	9	1172	c.964_splice	c.e9+1	p.E322_splice	CFI_uc003hzq.3_Splice_Site_p.E111_splice|CFI_uc003hzr.4_Splice_Site_p.E314_splice	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	314					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GTTAGCTTACCTGCATCCATG	0.294000														17			17		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274178	10274178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:10274178G>A	uc010uym.2	-	2	401	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	GRIN2A_uc002czo.4_Missense_Mutation_p.P31S|GRIN2A_uc002czr.4_Missense_Mutation_p.P31S|GRIN2A_uc010buk.3_Missense_Mutation_p.P31S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	31					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCGCGGGGGGACCCTTCTCC	0.692000														30			18		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12516831	12516831	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:12516831C>A	uc004cuz.2	+	1	580	c.74C>A	c.(73-75)cCc>cAc	p.P25H	FRMPD4_uc011mij.2_Missense_Mutation_p.P17H	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	25					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGCCGCCTCCCTCGGGAACC	0.512000														30			10		3.07112e-06	3.08609e-06	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115488946	115488946	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:115488946G>A	uc001efr.3	+	25	2400	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E731K|SYCP1_uc009wgw.3_Missense_Mutation_p.E731K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	731					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGACTCAGAATTAGGACT	0.313000														27			12		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348614	10348614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:10348614C>T	uc002gmn.3	-	35	5346	c.5235G>A	c.(5233-5235)atG>atA	p.M1745I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1745					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGATGTCCTCCATCTCTCCCT	0.463000														14			26		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559772	140559773	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140559772_140559773GG>AA	uc011dai.2	+	0	2402_2403	c.2157_2158GG>AA	c.(2155-2160)agggcg>agAAcg	p.A720T	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	720					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGAGCAGGGCGGCCTCGGT	0.639000														70			48		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132236896	132236896	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:132236896G>A	uc002tsu.4	+	2	435	c.242G>A	c.(241-243)gGg>gAg	p.G81E		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	81					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGCGCACAGGGACCTACAGG	0.512000														20			37		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22161612	22161612	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:22161612C>T	uc003xbn.2	+	10	1408	c.1260C>T	c.(1258-1260)acC>acT	p.T420T	PIWIL2_uc011kzf.1_Silent_p.T420T|PIWIL2_uc010ltv.2_Silent_p.T420T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	420	PAZ.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TTGTTATCACCCGATATAACA	0.393000														39			12		0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216714	134216714	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:134216714C>T	uc003vrr.3	+	2	609	c.289C>T	c.(289-291)Ctc>Ttc	p.L97F		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	97					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGAGAAGACCCTCAAGGACCT	0.463000														40			29		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40265894	40265894	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:40265894A>C	uc001zkm.1	+	10	1812	c.1762A>C	c.(1762-1764)Att>Ctt	p.I588L	EIF2AK4_uc001zkl.3_Missense_Mutation_p.I588L|EIF2AK4_uc010bbj.1_Missense_Mutation_p.I317L	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	588					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCGATACTTCATTGAGTTTGA	0.443000														40			37		0	0	1	0	0
TIMM8A	1678	broad.mit.edu	37	X	100601521	100601521	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:100601521G>A	uc004ehd.2	-	1	565	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_004085	NP_004076	O60220	TIM8A_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 8 homolog A (yeast) (TIMM8A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	87					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding			endometrium(1)|lung(1)	2						AACTGGCTTGGATTTCTGGGT	0.448000														105			56		0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20231456	20231456	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:20231456C>T	uc001bcs.4	+	5	930	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	271										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCGTGCTTCGGATGAACCA	0.294000														30			19		0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134401	21134401	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:21134401G>A	uc002ztc.2	+	0	888	c.885G>A	c.(883-885)atG>atA	p.M295I	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.M267I	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	267					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACCACATCATGAAGCTCACCA	0.433000														106			89		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631485	32631485	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:32631485G>A	uc003zrg.1	-	0	4183	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1365					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGCTGTTTAGGAAACTTGAGA	0.438000														55			49		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167653129	167653130	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:167653129_167653130CC>TT	uc010jjd.3	+	23	5118_5119	c.5118_5119CC>TT	c.(5116-5121)cgcccc>cgTTcc	p.P1707S	ODZ2_uc003lzr.4_Missense_Mutation_p.P1477S|ODZ2_uc003lzt.4_Missense_Mutation_p.P1080S|ODZ2_uc010jje.3_Missense_Mutation_p.P971S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACGTGACGCGCCCCACGGGGGT	0.525000														9			5		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41759338	41759338	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:41759338G>A	uc003ckv.4	-	22	2538	c.2337C>T	c.(2335-2337)atC>atT	p.I779I		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	779							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGTCTCTCTCGATGTACATCA	0.448000														20			13		0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160906968	160906968	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:160906968G>A	uc003qtj.2	-	4		c.729C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CCATTTCCATGGTAGCACTCC	0.453000														25			46		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260967	32260967	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:32260967C>T	uc021yvt.1	-	22	1656	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.D412N|C6orf10_uc011dpz.2_Missense_Mutation_p.D493N|C6orf10_uc021yvu.1_Missense_Mutation_p.D493N|C6orf10_uc021yvv.1_Missense_Mutation_p.D479N	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	495	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						tttcctttATCCTCAAAACTC	0.378000														100			39		0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38907396	38907396	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:38907396C>T	uc003gtn.3	+	5	830	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	FAM114A1_uc011byh.2_5'UTR	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	191						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGCCACAGATCAGGGCCCTGC	0.483000														14			8		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130646	45130646	+	Silent	SNP	C	T	T	rs144394680	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:45130646C>T	uc002xsa.3	-	3	1863	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	ZNF334_uc002xsb.3_Silent_p.T406T|ZNF334_uc002xsd.3_Silent_p.T406T|ZNF334_uc002xsc.3_Silent_p.T444T|ZNF334_uc010ghl.3_Silent_p.T443T			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGCTGATTTCGTACATAAAA	0.378000														39			29		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586424	143586424	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:143586424C>T	uc003lnm.1	+	2	776	c.147C>T	c.(145-147)tcC>tcT	p.S49S	KCTD16_uc003lnn.1_Silent_p.S49S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	49	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCCTCATTCCCTCCTGTGGA	0.478000														19			12		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241535933	241535933	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:241535933C>T	uc002vzk.2	+	7	1672	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Silent_p.S364S|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	492	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGCGAGTCTCCCTTAGGTGAG	0.632000														9			15		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365919	88365919	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:88365919G>A	uc003ydy.2	+	9	1256	c.1208G>A	c.(1207-1209)gGt>gAt	p.G403D		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	403										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAGTCCTTTGGTGAGATTAGC	0.338000														13			8		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404341	197404341	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:197404341C>T	uc001gtz.3	+	8	3557	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	CRB1_uc010poz.2_Silent_p.F1092F|CRB1_uc009wza.3_Silent_p.F1004F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Silent_p.F597F|CRB1_uc001gub.1_Silent_p.F765F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1116	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCATGGTTTCATTAATAAAC	0.398000														28			19		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786738	45786738	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:45786738G>A	uc010gpt.1	+	3	625	c.525G>A	c.(523-525)ggG>ggA	p.G175G	TRPM2_uc002zet.1_Silent_p.G175G|TRPM2_uc002zeu.1_Silent_p.G175G|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.G175G|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	175						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGGTGACCGGGGGGGCCAAGA	0.612000														6			23		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347189	48347189	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:48347189C>T	uc010rhv.2	+	0	697	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L233L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTAATCTGCCTGTTGAACTT	0.512000														31			4		0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864788	4864788	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:4864788C>T	uc003gif.3	+	1	1065	c.830C>T	c.(829-831)cCc>cTc	p.P277L		NM_002448	NP_002439	P28360	MSX1_HUMAN	Homo sapiens msh homeobox 1 (MSX1), mRNA.	271					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCTCTGGCCCCTTCCAGCGC	0.711000														10			5		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108182076	108182076	+	Silent	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:108182076G>T	uc003dxa.1	-	16	1863	c.1806C>A	c.(1804-1806)atC>atA	p.I602I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	602	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCAACCACTGATATTATAAG	0.373000														78			10		0.00829132	0.00830139	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31322904	31322904	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:31322904C>T	uc010dmg.1	+	11	3147	c.3092C>T	c.(3091-3093)tCc>tTc	p.S1031F	ASXL3_uc002kxq.2_Missense_Mutation_p.S738F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1031					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACCAGTCTCCAAACCTGAG	0.473000														10			7		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43577114	43577114	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:43577114G>A	uc001zrf.1	-	6	907	c.902C>T	c.(901-903)tCc>tTc	p.S301F		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	301					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	ACGGAAATTGGAAACAACACG	0.418000														31			14		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38723782	38723782	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:38723782A>T	uc021yzh.1	+	9	1551	c.1442A>T	c.(1441-1443)aAt>aTt	p.N481I	DNAH8_uc003ooe.2_Missense_Mutation_p.N264I	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						AATTTGATTAATGCCATCAGA	0.318000														31			18		0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527037	3527037	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:3527037C>T	uc010dtk.2	+	4	481	c.447C>T	c.(445-447)tcC>tcT	p.S149S	FZR1_uc002lxt.2_Silent_p.S149S|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	149					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCTACTCCCTGTCTCCCG	0.642000														30			29		0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100490865	100490865	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:100490865C>T	uc004egz.2	+	3	503	c.134C>T	c.(133-135)aCc>aTc	p.T45I	DRP2_uc011mrh.1_5'UTR	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	45					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.A45S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCTGCTGTCACCAGCCCTGCA	0.562000														79			36		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076129	62076129	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:62076129G>A	uc002yey.1	-	3	750	c.573C>T	c.(571-573)gtC>gtT	p.V191V	KCNQ2_uc002yez.1_Silent_p.V191V|KCNQ2_uc002yfa.1_Silent_p.V191V|KCNQ2_uc002yfb.1_Silent_p.V191V|KCNQ2_uc011aax.1_Silent_p.V191V|KCNQ2_uc002yfc.1_Silent_p.V191V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	191					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATGTGGCAAAGACGTTGCCCT	0.662000														8			3		0	0	1	0	0
MIR519A2	574500	broad.mit.edu	37	19	54265621	54265621	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:54265621G>A	uc021vaz.1	+	0		c.24G>A								Homo sapiens microRNA 519a-2 (MIR519A2), microRNA.																		CCCTCTACAGGGAAGCGCTTT	0.413000														64			41		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527123	6527123	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:6527123C>T	uc001iji.1	-	8	1192	c.1108G>A	c.(1108-1110)Gga>Aga	p.G370R	PRKCQ_uc001ijj.2_Missense_Mutation_p.G337R|PRKCQ_uc009xim.2_Missense_Mutation_p.G337R|PRKCQ_uc009xin.2_Missense_Mutation_p.G301R|PRKCQ_uc010qax.2_Missense_Mutation_p.G212R	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	337					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCTCTTTTTCCCGGTGTCGGT	0.433000														21			37		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109677680	109677680	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:109677680C>T	uc001tob.3	+	34	4827	c.4708C>T	c.(4708-4710)Ctg>Ttg	p.L1570L	ACACB_uc001toc.3_Silent_p.L1570L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.L236L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1570					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCGGCTGCTCCTGGAGGCCAT	0.607000														22			14		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57206380	57206380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:57206380C>T	uc001cym.4	-	12	2099	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	565								p.E565D(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTTAAGTTTTCTTTCGACTTG	0.363000														9			6		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232121	113232122	+	Silent	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:113232121_113232122CC>TT	uc001eck.3	+	3	696_697	c.426_427CC>TT	c.(424-429)cgcctg>cgTTtg	p.142_143RL>RL	MOV10_uc001ecl.2_Silent_p.142_143RL>RL|MOV10_uc001ecn.3_Silent_p.142_143RL>RL|MOV10_uc001ecm.3_Silent_p.82_83RL>RL|MOV10_uc009wgj.1_Silent_p.82_83RL>RL	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	142					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCTTATCCGCCTGGATTTGAA	0.589000														37			27		0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57741223	57741223	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:57741223G>A	uc002ixr.1	+	8	1844	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	CLTC_uc002ixp.3_Silent_p.L463L|CLTC_uc002ixq.1_Silent_p.L463L	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	463	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGAAGAACTGGGTGATCTTG	0.413000			T	"""ALK, TFE3"""	"""ALCL, renal """									31			10		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170615	53170615	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:53170615C>A	uc001sax.3	-	0	515	c.461G>T	c.(460-462)gGa>gTa	p.G154V		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	154	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCTGAATTCCCCCAGGAAA	0.582000														16			11		5.50884e-06	5.52895e-06	1	1	0
CADPS	8618	broad.mit.edu	37	3	62543092	62543092	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:62543092C>T	uc003dll.2	-	9	2101	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	CADPS_uc003dlk.1_Missense_Mutation_p.D85N|CADPS_uc003dlm.2_Missense_Mutation_p.D581N|CADPS_uc003dln.2_Missense_Mutation_p.D581N|CADPS_uc021wzv.1_Missense_Mutation_p.D581N	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	581	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGCTGGGGGTCGGTGTAATCC	0.522000														41			19		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161902	161161902	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:161161902C>T	uc001fyt.4	-	7	2468	c.2040G>A	c.(2038-2040)ggG>ggA	p.G680G		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	680	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGAACCGTCCCCTCCGCACA	0.537000											OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			18		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898159	175898159	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:175898159G>A	uc003iuc.3	+	4	2153	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ADAM29_uc003iud.3_Missense_Mutation_p.E495K|ADAM29_uc010irr.3_Missense_Mutation_p.E495K|ADAM29_uc011cki.2_Missense_Mutation_p.E495K|ADAM29_uc021xuo.1_Missense_Mutation_p.E495K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	495	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTACTGCTATGAAAAGAGCTG	0.453000														33			20		0	0	1	0	0
CCL11	6356	broad.mit.edu	37	17	32614654	32614654	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:32614654G>A	uc002hia.1	+	2	380	c.239G>A	c.(238-240)tGg>tAg	p.W80*		NM_002986	NP_002977	P51671	CCL11_HUMAN	Homo sapiens chemokine (C-C motif) ligand 11 (CCL11), mRNA.	80					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		AAGAAGAAGTGGGTGCAGGAT	0.438000														16			6		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769286	25769286	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:25769286G>A	uc003nfe.3	+	2	284	c.165G>A	c.(163-165)atG>atA	p.M55I	SLC17A4_uc011djx.2_Missense_Mutation_p.M55I|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.3_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	55					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCAACAAATGAACTTGAGCA	0.498000														8			55		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046885	73046885	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:73046885G>A	uc001sxa.3	+	16	2828	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	933					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCACATGGTCGAGACCTTGCC	0.378000														11			15		0	0	1	0	0
CXCL6	6372	broad.mit.edu	37	4	74702957	74702957	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:74702957C>T	uc003hhf.3	+	2	475	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S		NM_002993	NP_002984	P80162	CXCL6_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) (CXCL6), mRNA.	94					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTGTCTGGACCCGGAAGCCCC	0.443000														36			14		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36083860	36083860	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:36083860G>A	uc004ddk.1	+	2	229	c.43_splice	c.e2+1	p.D15_splice		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	15						integral to membrane		p.D15Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TTTAAAGAATGGTAAGCTATG	0.308000														11			4		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28659935	28659935	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:28659935G>A	uc002kwl.4	-	10	1995	c.1541C>T	c.(1540-1542)cCa>cTa	p.P514L	DSC2_uc002kwk.4_Missense_Mutation_p.P514L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	514	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCACCCTGTTGGATCAGTTAA	0.289000														61			32		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684123	109684123	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:109684123C>T	uc001tob.3	+	38	5560	c.5441C>T	c.(5440-5442)tCc>tTc	p.S1814F	ACACB_uc001toc.3_Missense_Mutation_p.S1814F|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.S480F	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1814	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTGCGGGCATCCGAGATGGCC	0.567000														34			26		0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607493	131607493	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:131607493C>T	uc003kwo.3	+	4	1081	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Missense_Mutation_p.P227L|PDLIM4_uc003kwp.3_Intron	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	227							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGATTGGCCCGGGCCTGGC	0.701000														19			14		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114043548	114043548	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:114043548C>T	uc001kzr.1	+	0	56	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	19	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TCTGCAAAATCGTGTGCTCCA	0.478000														2			9		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196748929	196748929	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:196748929A>T	uc001gtl.3	+	2	343	c.256A>T	c.(256-258)Aaa>Taa	p.K86*	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Nonsense_Mutation_p.K86*|CFHR1_uc010poy.2_Nonsense_Mutation_p.K86*|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	86	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTCCTTAGGAAAATGTTATTT	0.284000														7			4		0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686212	5686212	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:5686212G>A	uc001mbm.2	-	7	1612	c.1309C>T	c.(1309-1311)Cgt>Tgt	p.R437C	TRIM6-TRIM34_uc009yer.3_Intron|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	437	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		ACTCCAACACGATCAGGACAA	0.398000														21			14		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359140	178359140	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:178359140G>A	uc003mjn.1	+	4	1335	c.826G>A	c.(826-828)Gga>Aga	p.G276R	ZFP2_uc010jky.2_Missense_Mutation_p.G276R|ZFP2_uc010jkx.1_Missense_Mutation_p.G276R|ZFP2_uc021yjb.1_Missense_Mutation_p.G276R	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TAGTCAATGTGGAAAAGCCTT	0.393000														39			13		0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248369	55248369	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:55248369G>A	uc001sgk.3	+	0	71	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	1						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TCACCACCATGAAGTTCTTAG	0.438000														16			10		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905537	3905537	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:3905537C>T	uc010xhz.2	+	4	743	c.260C>T	c.(259-261)tCc>tTc	p.S87F	ATCAY_uc002lyy.4_Missense_Mutation_p.S81F			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	81					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCCTGCTGTCCGATGACTTC	0.542000														39			13		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10081489	10081489	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:10081489C>T	uc003buw.3	+	8	733	c.655C>T	c.(655-657)Cta>Tta	p.L219L	FANCD2_uc003bux.1_Silent_p.L219L|FANCD2_uc003buy.1_Silent_p.L219L|FANCD2_uc003buv.3_Silent_p.L219L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	219	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ACCTGAGATCCTAGGGGATTC	0.512000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					37			18		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216052118	216052118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:216052118C>T	uc001hku.1	-	41	8933	c.8546G>A	c.(8545-8547)gGa>gAa	p.G2849E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2849	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAATTAGGTCCATTTGGCTT	0.413000										HNSCC(13;0.011)				12			7		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92765048	92765048	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:92765048G>A	uc003umh.1	-	4	1453	c.237C>T	c.(235-237)tcC>tcT	p.S79S	SAMD9L_uc003umj.1_Silent_p.S79S|SAMD9L_uc003umi.1_Silent_p.S79S|SAMD9L_uc010lfb.1_Silent_p.S79S|SAMD9L_uc003umk.1_Silent_p.S79S|SAMD9L_uc010lfc.1_Silent_p.S79S|SAMD9L_uc010lfd.1_Silent_p.S79S|SAMD9L_uc022ahh.1_Silent_p.S79S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	79	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CACTTTCAGGGGACTTACTAT	0.393000														57			34		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926339	106926339	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:106926339G>A	uc021ser.1	-	325		c.11529C>T								Parts of antibodies, mostly variable regions.																		ACTAATAAGAGAGACCCACTC	0.517000														105			45		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642615	57642615	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:57642615G>A	uc002qny.3	+	3	2928	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	USP29_uc021vci.1_Missense_Mutation_p.D858N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	858					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.N857N(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATACAACGATCTATGTGT	0.453000														15			7		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408089	197408089	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:197408089G>A	uc003fyc.2	-	15	2524	c.2341C>T	c.(2341-2343)Ctc>Ttc	p.L781F	KIAA0226_uc003fyd.3_Missense_Mutation_p.L736F|KIAA0226_uc003fye.1_Missense_Mutation_p.L513F	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	781					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATCTTAATGAGCAGGTCCTTG	0.527000														57			27		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50681780	50681780	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:50681780C>T	uc003paf.3	+	0	524	c.12C>T	c.(10-12)acC>acT	p.T4T	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	4							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGTCAACTACCTTTCCGGGAC	0.458000														64			11		0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59784512	59784512	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:59784512G>A	uc002agc.2	+	3	524	c.337G>A	c.(337-339)Gga>Aga	p.G113R		NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	113										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CATTAGCTATGGAACTAATTC	0.483000														7			4		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21108902	21108902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:21108902C>T	uc001vxv.1	-	0	949	c.949G>A	c.(949-951)Ggg>Agg	p.G317R		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AAAAGATTCCCTAAAACGCCT	0.343000														61			38		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29429670	29429670	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:29429670G>T	uc002kxc.4	-	24	3958	c.3594C>A	c.(3592-3594)ttC>ttA	p.F1198L	TRAPPC8_uc002kxb.4_Missense_Mutation_p.F1144L|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1198					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCGATAAAAGAAGTCTGCAC	0.318000														13			7		8.12818e-05	8.15291e-05	1	1	0
CSF1	1435	broad.mit.edu	37	1	110460044	110460044	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:110460044C>T	uc001dyu.2	+	3	768	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	CSF1_uc001dyt.2_Silent_p.L119L|CSF1_uc021ori.1_Silent_p.L119L|CSF1_uc001dyw.4_Silent_p.L119L|CSF1_uc021orj.1_Silent_p.L78L	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	119					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTCTTTGAGGCTGAAGAGCTG	0.542000														125			64		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953392	70953392	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:70953392G>A	uc001swb.4	-	15	3821	c.3791C>T	c.(3790-3792)cCc>cTc	p.P1264L	PTPRB_uc010sto.2_Missense_Mutation_p.P1174L|PTPRB_uc010stp.2_Missense_Mutation_p.P1174L|PTPRB_uc001swc.4_Missense_Mutation_p.P1482L|PTPRB_uc001swa.4_Missense_Mutation_p.P1394L|PTPRB_uc001swd.4_Missense_Mutation_p.P1481L|PTPRB_uc009zrr.2_Missense_Mutation_p.P1361L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1264	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATAAGACTGGGAGGACTTGG	0.448000														22			15		0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668385	59668385	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:59668385G>A	uc002izj.2	-	0	179	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	53					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GCTGCCACCAGCCAGGCTTTT	0.507000														82			31		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19359523	19359523	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:19359523C>T	uc002nlz.3	+	13	3751	c.3652C>T	c.(3652-3654)Cct>Tct	p.P1218S	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1218	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGTGGTCCCCCTCCGGCAGT	0.517000														12			11		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026231	16026231	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:16026231C>T	uc010lsu.3	-	3	484	c.420G>A	c.(418-420)gaG>gaA	p.E140E	MSR1_uc003wwz.3_Silent_p.E122E|MSR1_uc003wxa.3_Silent_p.E122E|MSR1_uc003wxb.3_Silent_p.E122E|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	122					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGATTCTCTTCTCCATGTTGC	0.378000														62			30		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65393459	65393459	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:65393459G>A	uc011moz.2	+	3	740	c.603G>A	c.(601-603)ggG>ggA	p.G201G	HEPH_uc004dwn.3_Silent_p.G150G|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Silent_p.G150G|HEPH_uc011mpa.2_Silent_p.G150G	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	147	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTCCTCTGGGCCACTGAAAG	0.527000														13			8		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157548298	157548298	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:157548298C>T	uc001fqw.3	-	9	1531	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	465						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TAGTCTGGATCTCAGAGTATA	0.408000														22			13		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119355	38119355	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:38119355G>A	uc003atr.3	+	6	1063	c.792G>A	c.(790-792)agG>agA	p.R264R	TRIOBP_uc003atu.3_Silent_p.R92R|TRIOBP_uc003atq.1_Silent_p.R264R|TRIOBP_uc003ats.1_Silent_p.R92R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	264					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGCCCAAAGGGACACTGCTC	0.607000														30			34		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45059275	45059275	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:45059275G>A	uc010skz.1	-	13	1711	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	NELL2_uc001rof.3_Missense_Mutation_p.S478L|NELL2_uc001rog.2_Missense_Mutation_p.S479L|NELL2_uc001roh.2_Missense_Mutation_p.S479L|NELL2_uc009zkd.2_Missense_Mutation_p.S478L|NELL2_uc010sla.1_Missense_Mutation_p.S502L|NELL2_uc001roi.1_Missense_Mutation_p.S479L|NELL2_uc010slb.1_Missense_Mutation_p.S478L|NELL2_uc001roj.2_Missense_Mutation_p.S479L	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	479	EGF-like 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G528G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACCTGTACATGAATAATCATC	0.328000														11			10		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35272177	35272177	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:35272177C>T	uc001wsk.3	-	6	1312	c.744G>A	c.(742-744)acG>acA	p.T248T	BAZ1A_uc001wsl.3_Silent_p.T248T|BAZ1A_uc001wsm.1_Silent_p.T248T	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	248					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.T248M(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTATTTTATACGTTGAAAGAG	0.373000														22			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725813	140725813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140725813C>T	uc003ljm.2	+	0	2213	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S738L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	739					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)			ACGCCCGGCTCGCACTTTGTG	0.667000														58			50		0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139700	101139700	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:101139700G>A	uc011mrl.2	-	6	1049	c.699C>T	c.(697-699)gcC>gcT	p.A233A	ZMAT1_uc004eim.3_Silent_p.A62A|ZMAT1_uc004ein.3_Silent_p.A62A|ZMAT1_uc011mrm.2_Silent_p.A62A	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	62						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTAGTCCTCTGGCTTTCTGCA	0.408000														70			40		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280787	17280787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:17280787C>T	uc002zlv.3	-	2	561	c.463G>A	c.(463-465)Gat>Aat	p.D155N	XKR3_uc011agf.2_Missense_Mutation_p.D155N	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	155						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATGAAATTATCCCGGATTGAG	0.398000														66			33		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926885	43926885	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:43926885G>A	uc002xnn.2	-	6	1538	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	MATN4_uc002xnp.2_Missense_Mutation_p.R369C|MATN4_uc002xno.2_Missense_Mutation_p.R410C|MATN4_uc010zwr.1_Missense_Mutation_p.R399C|MATN4_uc002xnr.1_Missense_Mutation_p.R451C	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	492	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCCAACACGAGGCACGTTA	0.662000														35			39		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993296	140993296	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:140993296C>A	uc004fbt.3	+	3	430	c.106C>A	c.(106-108)Cag>Aag	p.Q36K	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	36							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCCTCTCCAGATTCCCCA	0.577000										HNSCC(15;0.026)				63			33		8.4185e-14	8.5481e-14	1	1	0
RGS7	6000	broad.mit.edu	37	1	241031894	241031894	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:241031894C>A	uc001hyt.2	-	1	152	c.98G>T	c.(97-99)aGg>aTg	p.R33M	RGS7_uc010pyh.2_Missense_Mutation_p.R175M|RGS7_uc010pyj.1_Missense_Mutation_p.R117M|RGS7_uc001hyu.2_Missense_Mutation_p.R201M|RGS7_uc009xgn.1_Missense_Mutation_p.R148M|RGS7_uc001hyv.2_Missense_Mutation_p.R201M|RGS7_uc001hyw.2_Missense_Mutation_p.R201M	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	201					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R33W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TACCACGGGCCTGTGCACGTC	0.498000														35			11		5.50884e-06	5.52895e-06	1	1	0
RTTN	25914	broad.mit.edu	37	18	67836252	67836252	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:67836252A>T	uc002lkp.2	-	11	1596	c.1528T>A	c.(1528-1530)Ttg>Atg	p.L510M	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Intron|RTTN_uc002lkq.1_Missense_Mutation_p.L510M	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	510							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGCATGTCCAAAGAAAGGAGA	0.313000														20			10		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205499447	205499447	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:205499447C>T	uc001hcr.3	+	13	1634	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L	CDK18_uc001hcp.3_Silent_p.L428L|CDK18_uc001hcq.3_Silent_p.L428L|CDK18_uc010prj.2_Silent_p.L339L|CDK18_uc001hcs.3_Silent_p.L339L|CDK18_uc009xbm.1_3'UTR	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	426							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTTCCGGTCTCTGGGAGAGCG	0.607000														44			24		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016635	121016635	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:121016635C>T	uc010rzo.2	+	10	3915	c.3915C>T	c.(3913-3915)ccC>ccT	p.P1305P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1305	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTGATCCCCAACCAGAACG	0.572000														44			38		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084593	39084593	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:39084593T>A	uc002hvm.1	-	5	1407	c.818A>T	c.(817-819)gAg>gTg	p.E273V	KRT23_uc010wfl.1_Missense_Mutation_p.E136V|KRT23_uc010cxf.1_Missense_Mutation_p.E60V|KRT23_uc010cxg.3_Missense_Mutation_p.E273V	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	273	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ACTGGCTGCCTCCTGGGACAT	0.547000														81			30		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795201	55795201	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:55795201C>T	uc010spl.2	+	0	889	c.889C>T	c.(889-891)Cag>Tag	p.Q297*		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GCAGGTGAAACAGGCCCTTAG	0.358000														18			7		0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219447744	219447744	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:219447744C>T	uc010zkh.2	+	2	255	c.255C>T	c.(253-255)caC>caT	p.H85H	RQCD1_uc002vih.1_Silent_p.H85H|RQCD1_uc010zki.2_Silent_p.H85H	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	85					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAGCACACCAGTCTAACA	0.383000														11			19		0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118257192	118257192	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:118257192C>T	uc001psw.3	+	15	2587	c.2452C>T	c.(2452-2454)Cga>Tga	p.R818*	UBE4A_uc001psv.3_Nonsense_Mutation_p.R825*	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	818					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGAGAAGGATCGAGGTGAATG	0.463000														39			23		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409720	69409720	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:69409720C>T	uc002sfg.3	+	15	1637	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	427					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AATATGAATTCCCTGAGCCGC	0.468000									Familial Infantile Hemangioma					6			20		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21695476	21695476	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:21695476C>T	uc003svc.3	+	28	5017	c.4986C>T	c.(4984-4986)ttC>ttT	p.F1662F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1662	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCAAACTTTTCGACAGCATTG	0.383000									Kartagener syndrome					16			7		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470984	111470984	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:111470984G>A	uc003iab.4	+	16	2785	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	815					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.Q814H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATTAGCTCAAGAAAAAGAAAA	0.363000														19			16		0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172550206	172550206	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:172550206G>A	uc003mch.3	+	8	2123	c.1804_splice	c.e8+1	p.G602_splice	CREBRF_uc011dfd.1_Splice_Site_p.G602_splice	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	602							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GATACTCTCGGTAAGAAGAAT	0.348000														33			12		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37618054	37618054	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:37618054C>T	uc003onu.1	-	7	2619	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	480	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTGCAGCCTCCTTGTCCACGC	0.711000														12			8		0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	409599	409599	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:409599T>C	uc002wdp.4	+	10	2006	c.1313T>C	c.(1312-1314)aTg>aCg	p.M438T	RBCK1_uc002wdq.4_Missense_Mutation_p.M396T|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Missense_Mutation_p.M268T	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	438					T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CTCCAGGTGATGCTGCAGCAG	0.687000														10			6		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318529	71318529	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:71318529C>T	uc001dfk.1	-	3	1349	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.G364E	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GTTTTAATTTCCCCAAAATTC	0.338000														78			42		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417024	130417024	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:130417024G>A	uc004ewe.4	-	5	1165	c.882C>T	c.(880-882)taC>taT	p.Y294Y	IGSF1_uc004ewd.3_Silent_p.Y294Y|IGSF1_uc022cdv.1_Silent_p.Y285Y|IGSF1_uc004ewf.2_Silent_p.Y274Y	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	294	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAAAACAGAGGTAATGTCCAG	0.403000														31			16		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57756691	57756691	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:57756691C>T	uc009vzx.1	-	1	332	c.12G>A	c.(10-12)gaG>gaA	p.E4E	DAB1_uc001cyt.1_Silent_p.E4E|DAB1_uc001cyq.1_Silent_p.E4E|DAB1_uc001cyr.1_Silent_p.E4E|DAB1_uc009vzw.1_Silent_p.E4E|DAB1_uc001cys.1_Silent_p.E4E	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	4					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GAAGTTCTGTCTCAGTTGACA	0.463000														20			17		0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084161	58084161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:58084161G>A	uc002qpf.3	-	3	1282	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTGGTGTCGAACAAGAGTG	0.423000														30			17		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174385	150174385	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:150174385G>A	uc003whj.3	+	4	1845	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	505						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGTCGAAAAGGACCCATCCC	0.542000														19			16		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34089009	34089009	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:34089009C>T	uc001bxm.1	-	35	5860	c.5683G>A	c.(5683-5685)Ggt>Agt	p.G1895S	CSMD2_uc001bxn.1_Missense_Mutation_p.G1855S|CSMD2_uc001bxo.1_Missense_Mutation_p.G768S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1855	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTATCTGCACCATCAAATACT	0.483000														14			9		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7942602	7942602	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:7942602G>A	uc002gju.3	+	0	245	c.129G>A	c.(127-129)aaG>aaA	p.K43K	ALOX15B_uc002gjv.3_Silent_p.K43K|ALOX15B_uc002gjw.3_Silent_p.K43K|ALOX15B_uc010vun.2_Silent_p.K43K|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	43	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						ATCTCGGCAAGGAGTTCACTG	0.652000														14			27		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103123406	103123406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:103123406C>T	uc022ajr.1	-	62	10354	c.10194G>A	c.(10192-10194)atG>atA	p.M3398I	RELN_uc022ajq.1_Missense_Mutation_p.M3398I|RELN_uc010liz.3_Missense_Mutation_p.M3398I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3398					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.R3397Q(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGACTCCTTTCATCCGTGCCT	0.433000														25			11		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2566815	2566815	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:2566815A>T	uc009zdu.1	+	4	1013	c.700A>T	c.(700-702)Aag>Tag	p.K234*	CACNA1C_uc001qkc.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.K234*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkj.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkk.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkm.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.K234*|CACNA1C_uc009zdv.1_Nonsense_Mutation_p.K234*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.K234*|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	234					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTTGATGTGAAGGCGCTGAG	0.547000														113			62		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848702	73848702	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:73848702C>T	uc003xzb.3	+	2	1700	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	371					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S371L(2)|p.S371S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATCCCTGCATCATTTTGGTGG	0.433000														50			29		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28422225	28422225	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:28422225G>A	uc001zbj.3	-	60	9409	c.9303C>T	c.(9301-9303)atC>atT	p.I3101I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3101					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGATATCCCGGATACGCTTGG	0.567000														30			9		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817840	82817840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:82817840G>A	uc003kii.3	+	6	4071	c.3715G>A	c.(3715-3717)Gaa>Aaa	p.E1239K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E1239K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1239	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATCGACAGGGAACCTGGTGA	0.443000														22			23		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49038932	49038932	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:49038932G>A	uc003cvh.3	+	2	847	c.498G>A	c.(496-498)aaG>aaA	p.K166K	P4HTM_uc003cvg.3_Silent_p.K166K|P4HTM_uc010hkm.1_Silent_p.K52K	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	166						endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CGCAGATGAAGGGGTTACAGC	0.572000														16			14		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719783	41719783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:41719783C>T	uc002yyq.1	-	5	1476	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	342	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTTCCTGGTCCTCAGTTCCT	0.493000														18			42		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64508458	64508458	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:64508458C>T	uc009ypu.3	-	4	560	c.333G>A	c.(331-333)ggG>ggA	p.G111G	RASGRP2_uc001oat.3_5'Flank|RASGRP2_uc001oau.3_5'UTR|RASGRP2_uc009ypv.3_Silent_p.G111G|RASGRP2_uc009ypw.3_Silent_p.G111G	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	111	N-terminal Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCGTCGGTTCCCTTCTTGGT	0.577000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		19			19		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115818916	115818916	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:115818916C>T	uc011lwz.1	-	0	81	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	ZFP37_uc004bgm.1_Missense_Mutation_p.R18Q|ZFP37_uc011lxa.1_Missense_Mutation_p.R18Q	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	18						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTTCTCCTCCGGTCCACGGT	0.672000														21			46		0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111434995	111434995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:111434995G>A	uc001dzw.3	+	3	263	c.92G>A	c.(91-93)gGg>gAg	p.G31E	CD53_uc001dzx.3_Missense_Mutation_p.G31E|CD53_uc010owa.2_Missense_Mutation_p.G31E	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	31					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TTGGGCTTTGGGATCTACCTG	0.483000														40			23		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19428074	19428074	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:19428074C>T	uc022btq.1	-	11	1716	c.1716G>A	c.(1714-1716)tgG>tgA	p.W572*	MAP3K15_uc004czj.2_Nonsense_Mutation_p.W7*|MAP3K15_uc004czk.2_Missense_Mutation_p.E15K	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	572							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGTAAAATTCCATTCGTGCA	0.299000														20			5		0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9952711	9952711	+	Missense_Mutation	SNP	G	A	A	rs138199794		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:9952711G>A	uc003btu.3	+	9	1089	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	CIDEC_uc003bto.3_Intron|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Missense_Mutation_p.R206Q|IL17RE_uc010hcq.3_Missense_Mutation_p.R322Q|IL17RE_uc003btw.3_Missense_Mutation_p.R322Q	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	322						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GCCACAGCTCGAGAGTCAGAT	0.612000														28			11		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730433	37730434	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:37730433_37730434GG>AA	uc003xkm.2	-	3	1942_1943	c.1886_1887CC>TT	c.(1885-1887)ccc>cTT	p.P629L	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	629					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TAGGGAGCAAGGGTGGTCCTTC	0.515000														38			22		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27132718	27132718	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:27132718C>T	uc010sjl.2	-	9	1427	c.1189_splice	c.e9+1	p.G397_splice		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	397						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATCGCCTACCCAGTGGAGTAA	0.473000														11			5		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122747276	122747276	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:122747276C>T	uc004etu.3	-	35	4683	c.4651G>A	c.(4651-4653)Gat>Aat	p.D1551N	THOC2_uc004etv.4_5'Flank|THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.D372N	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1551	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAGATTTTATCCATCTTCTCA	0.294000														24			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577814	179577814	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:179577814C>T	uc021vsy.1	-	89	23540	c.23315G>A	c.(23314-23316)aGa>aAa	p.R7772K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4433K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8699	Ig-like 60.						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)			AAACTGACCTCTCACAGTCAA	0.348000														3			10		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369201	158369201	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:158369201G>A	uc010pih.2	-	0	56	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S19P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCCAGGCTGGAGAAACCCAC	0.458000														11			7		0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127439949	127439949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:127439949C>T	uc003ejx.3	-	4	572	c.427G>A	c.(427-429)Gta>Ata	p.V143I	MGLL_uc003ejw.3_Missense_Mutation_p.V153I|MGLL_uc011bko.2_Missense_Mutation_p.V153I|MGLL_uc010hsp.1_Missense_Mutation_p.V143I|MGLL_uc003ejv.3_Missense_Mutation_p.V117I	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	143					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GAAATGAGTACCATGCCGGCG	0.567000														33			14		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013640	95013640	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:95013640C>T	uc002btj.3	+	19	2504	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	MCTP2_uc010boj.3_Silent_p.F542F|MCTP2_uc010bok.3_Silent_p.F758F|MCTP2_uc002btl.3_Silent_p.F401F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	813					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.F813V(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTTGTATTTCATTCCACTGC	0.403000														42			22		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767140	77767140	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:77767140G>A	uc003yau.2	+	9	8370	c.7983G>A	c.(7981-7983)agG>agA	p.R2661R	ZFHX4_uc003yaw.1_Silent_p.R2616R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2616						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGCGGGAGAGGAAAGGCCAGT	0.527000										HNSCC(33;0.089)				33			19		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354586	42354586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:42354586C>T	uc010xwe.2	+	6	1045	c.962C>T	c.(961-963)cCc>cTc	p.P321L	DMRTC2_uc002orr.1_Missense_Mutation_p.P198L|DMRTC2_uc002ors.3_Intron	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCTCCCTTTCCCTTGCAGGCC	0.607000														26			21		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2222198	2222198	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:2222198C>T	uc002lvc.1	+	9	1679	c.912C>T	c.(910-912)ccC>ccT	p.P304P	DOT1L_uc002lvb.4_Silent_p.P1010P|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1010						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCAGTCCCCGGCTTGGTG	0.697000														44			16		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89224397	89224397	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:89224397C>T	uc001pct.3	-	0	257	c.18G>A	c.(16-18)agG>agA	p.R6R	NOX4_uc009yvr.3_5'Flank|NOX4_uc001pcu.3_5'UTR|NOX4_uc001pcw.3_Silent_p.R6R|NOX4_uc001pcx.3_Silent_p.R6R|NOX4_uc001pcv.3_Silent_p.R6R|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_5'UTR|NOX4_uc009yvp.3_Silent_p.R6R|NOX4_uc010rtv.2_Intron|NOX4_uc009yvq.3_Intron|NOX4_uc009yvs.1_Non-coding_Transcript|NOX4_uc001pcy.3_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	6					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CGAGCCAGCTCCTCCAGGACA	0.652000														13			13		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515114	26515114	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:26515114C>T	uc001bln.4	+	18	1695	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	CNKSR1_uc001blm.4_Missense_Mutation_p.P539L|CNKSR1_uc009vsd.3_Missense_Mutation_p.P281L|CNKSR1_uc009vse.3_Missense_Mutation_p.P281L|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	546					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.P546R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGGAGTCCCCTCCATGGA	0.632000														13			9		0	0	1	0	0
TEKT4P2	100132288	broad.mit.edu	37	21	9907312	9907312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:9907312G>A	uc021wgx.1	-	3	549	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	TEKT4P2_uc002zka.2_3'UTR					Homo sapiens tektin 4 pseudogene 2 (TEKT4P2), transcript variant 2, non-coding RNA.																		CACTTCTGGCGGTCGATGAAG	0.582000														26			9		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172700881	172700881	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:172700881G>A	uc002uhh.2	-	4	552	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	SLC25A12_uc010fqh.2_Nonsense_Mutation_p.Q48*|SLC25A12_uc010zdv.1_Non-coding_Transcript	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	155	EF-hand 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding	p.L154L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAGCTCACCTGGAGAAACTGC	0.348000														6			23		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36897341	36897341	+	Missense_Mutation	SNP	G	A	A	rs147376195		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:36897341G>A	uc003apn.4	-	3	1271	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L	FOXRED2_uc003apm.4_5'Flank|FOXRED2_uc003apo.4_Missense_Mutation_p.S388L|FOXRED2_uc003app.4_Missense_Mutation_p.S388L	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	388					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTAGTCCACCGAGTGGCTGGC	0.557000														31			33		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65543951	65543951	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:65543951G>A	uc002sdr.4	-	4	1040	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	SPRED2_uc010fcw.3_Missense_Mutation_p.P166S	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	169					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CAGGATGTGGGAGAGGAGATT	0.512000														2			7		0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844628	5844628	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:5844628G>A	uc002mdk.2	-	1	320	c.223C>T	c.(223-225)Cct>Tct	p.P75S	FUT3_uc002mdm.2_Missense_Mutation_p.P75S|FUT3_uc002mdj.2_Missense_Mutation_p.P75S|FUT3_uc002mdl.2_Missense_Mutation_p.P75S|FUT3_uc021unn.1_Missense_Mutation_p.P75S|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	75					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGAGCCACAGGGATGTGGAAA	0.637000														35			32		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24703293	24703293	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:24703293G>T	uc003swx.3	+	6	1035	c.736G>T	c.(736-738)Gga>Tga	p.G246*	MPP6_uc003swy.3_Nonsense_Mutation_p.G246*	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	246	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTTTTCCAAAGGAGAGATTCT	0.343000														18			11		3.07112e-06	3.08609e-06	1	1	0
FAT2	2196	broad.mit.edu	37	5	150914097	150914097	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:150914097G>A	uc003lue.4	-	11	9313	c.9300C>T	c.(9298-9300)acC>acT	p.T3100T	FAT2_uc003lud.4_5'Flank	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3100	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACATGGAGGGTGATGTCTG	0.577000														25			18		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121059869	121059869	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:121059869G>A	uc010rzo.2	+	20	6243	c.6243G>A	c.(6241-6243)agG>agA	p.R2081R		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2081					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GACCTATTAGGAGAAAAAGTA	0.428000														18			9		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299281	58299281	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:58299281C>T	uc001vhq.1	+	3	4225	c.3333C>T	c.(3331-3333)tcC>tcT	p.S1111S	PCDH17_uc010aec.1_Silent_p.S1110S|PCDH17_uc001vhr.1_Silent_p.S200S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1111					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCGGGATTCCAGTGAGATGG	0.522000														79			140		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054648	106054648	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:106054648G>A	uc001yrt.3	-	1	134	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		AAGAAGCCCTGGACCAGGCAT	0.632000														40			17		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616117	173616117	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:173616117G>A	uc001gja.1	-	2	425	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	138										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTTCCAAACGACCCCAGGCT	0.413000														27			11		0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345206	224345206	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:224345206G>T	uc001hoh.2	+	4	906	c.865G>T	c.(865-867)Gtg>Ttg	p.V289L	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.V84L	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	289										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCGCACCAAAGTGCAAGAACA	0.478000														62			42		4.32679e-17	4.40969e-17	1	1	0
ACY3	91703	broad.mit.edu	37	11	67412787	67412787	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:67412787T>C	uc001omq.3	-	4	668	c.497A>G	c.(496-498)aAc>aGc	p.N166S		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	166					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	AGAGTCCAGGTTGTAGCTCTC	0.667000														14			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229265	140229265	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140229265C>T	uc003lhu.2	+	0	1909	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.F395F	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	410	Cadherin 4.				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)			ACGTCCCCTTCAAGCTGGTGT	0.587000														72			38		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12277249	12277250	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:12277249_12277250GG>AA	uc002kqt.4	+	4	705_706	c.640_641GG>AA	c.(640-642)ggc>AAc	p.G214N	CIDEA_uc002kqu.4_Missense_Mutation_p.G248N|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	214					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACAAGCCAAGGGCAGGTTCACG	0.545000														25			19		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31532132	31532132	+	Silent	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:31532132C>A	uc001bsi.1	-	1	395	c.282G>T	c.(280-282)ggG>ggT	p.G94G	PUM1_uc001bsh.1_Silent_p.G94G|PUM1_uc001bsj.1_Silent_p.G94G|PUM1_uc010oga.1_Silent_p.G94G|PUM1_uc001bsk.1_Silent_p.G130G|PUM1_uc010ogb.1_Silent_p.G130G	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	94					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTCCTCCTCCCCCAAGCTGCT	0.502000														36			33		9.78485e-24	9.97849e-24	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597363	136597363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:136597363C>T	uc003qgx.1	-	4	1553	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E432K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E432K|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	434					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGAGTCCTTCCTCCTCAGTA	0.398000														78			34		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453571	74453571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:74453571C>T	uc003hhd.1	-	4	587	c.464G>A	c.(463-465)aGg>aAg	p.R155K	RASSF6_uc003hhc.1_Missense_Mutation_p.R123K|RASSF6_uc010iik.1_Missense_Mutation_p.R123K|RASSF6_uc010iil.1_Missense_Mutation_p.R111K	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	155					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CTGGGAATTCCTTTTTTCAGA	0.373000														37			21		0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3921430	3921430	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:3921430G>A	uc001qmk.1	-	6	910	c.855C>T	c.(853-855)tcC>tcT	p.S285S	PARP11_uc001qml.2_Silent_p.S292S|PARP11_uc009zef.2_Non-coding_Transcript|PARP11_uc001qmm.2_Silent_p.S211S|PARP11_uc001qmn.2_Silent_p.S211S	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 11 (PARP11), mRNA.	285	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GCATGTATTTGGAGTCTCCGT	0.408000														21			26		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502535	91502535	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:91502535C>T	uc001tbm.3	-	1	611	c.222G>A	c.(220-222)agG>agA	p.R74R		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	74					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						TCTGGTTATTCCTAAGGTAAA	0.408000														32			21		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148889627	148889627	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:148889627G>A	uc009wkv.1	+	6		c.714G>A								Homo sapiens cDNA, FLJ17483.																		GGAAGAAGTGGAAAATGTAGC	0.348000														32			5		0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22255241	22255241	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:22255241G>A	uc001uog.2	+	1	1175	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	113					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GTGGACAGTGGACTCTACCTC	0.483000														36			39		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345875	124345875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:124345875G>A	uc001lgk.1	+	15	1865	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	DMBT1_uc001lgl.1_Missense_Mutation_p.E577K|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.E587K|DMBT1_uc021qag.1_Missense_Mutation_p.E577K|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.E587K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	587	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATAGTGAAGACGCTGG	0.517000														63			38		0	0	1	0	0
LYSMD2	256586	broad.mit.edu	37	15	52016990	52016990	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:52016990C>T	uc002abi.3	-	1	1103	c.602G>A	c.(601-603)aGc>aAc	p.S201N	LYSMD2_uc002abj.3_Missense_Mutation_p.S110N	NM_153374	NP_001137389	Q8IV50	LYSM2_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 2 (LYSMD2), transcript variant 1, mRNA.	201					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		TTCTTACCTGCTCTCTTCTTT	0.413000														24			18		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873720	24873720	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:24873720G>T	uc001isb.2	-	25	5985	c.5498C>A	c.(5497-5499)tCa>tAa	p.S1833*	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1832	Interaction with CTNNA1.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTACAGCTGAAAGTTCAGA	0.507000														6			18		6.94344e-10	7.02438e-10	1	1	0
BRAF	673	broad.mit.edu	37	7	140481403	140481403	+	Missense_Mutation	SNP	C	T	T	rs121913358		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:140481403C>T	uc003vwc.4	-	10	1466	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		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.G469A(30)|p.G469V(17)|p.G469R(13)|p.G469S(12)|p.G469E(7)|p.F468C(1)|p.F468S(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)	TAGACTGTTCCAAATGATCCA	0.373000		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					46			24		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787235	121787235	+	Missense_Mutation	SNP	G	A	A	rs142050826	by1000genomes	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:121787235G>A	uc003ksw.1	+	9	2899	c.2693G>A	c.(2692-2694)gGg>gAg	p.G898E	SNCAIP_uc011cwl.1_Missense_Mutation_p.G456E|SNCAIP_uc003ksy.1_Missense_Mutation_p.G532E|SNCAIP_uc003ksx.1_Missense_Mutation_p.G945E|SNCAIP_uc003ksz.1_Missense_Mutation_p.G532E|SNCAIP_uc010jcu.2_Missense_Mutation_p.G494E|SNCAIP_uc011cwm.1_Missense_Mutation_p.G532E|SNCAIP_uc003kta.1_Missense_Mutation_p.G530E|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G592E|SNCAIP_uc010jcx.1_Missense_Mutation_p.G838E|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.G414E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	898					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACCTCACTTGGGAGGAAGACA	0.438000														43			26		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644418	18644418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:18644418G>A	uc001rdt.3	+	18	2712	c.2596G>A	c.(2596-2598)Gag>Aag	p.E866K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E907K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E685K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	866					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGACTAGAAGAGTTCTTTCA	0.338000														19			9		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147630	6147630	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:6147630C>T	uc002mef.1	+	2	468	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Silent_p.L81L|ACSBG2_uc002meh.1_Silent_p.L81L|ACSBG2_uc002mei.1_Silent_p.L31L|ACSBG2_uc010xiz.1_Silent_p.L81L	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	81					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGGGAAATTCTGAATTTCAA	0.423000														60			34		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53834309	53834309	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:53834309G>A	uc003dgv.4	+	40	5120	c.4957G>A	c.(4957-4959)Gaa>Aaa	p.E1653K	CACNA1D_uc003dgu.4_Missense_Mutation_p.E1673K|CACNA1D_uc003dgy.4_Missense_Mutation_p.E1638K|CACNA1D_uc003dgw.4_Missense_Mutation_p.E1320K|CACNA1D_uc003dgx.1_Missense_Mutation_p.E829K|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1653					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATTGGGCCAGAAATCCGGCG	0.493000														58			32		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794838	214794838	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:214794838G>A	uc002veq.3	+	11	1461	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	SPAG16_uc010fuz.2_Missense_Mutation_p.D308N|SPAG16_uc002ver.3_Missense_Mutation_p.D403N|SPAG16_uc010zjk.2_Missense_Mutation_p.D363N	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	457					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTCCTCACTGGATAAAACTAG	0.428000														10			14		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15686188	15686188	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:15686188C>T	uc001ioc.1	-	12	1240	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	ITGA8_uc010qcb.1_Missense_Mutation_p.D399N	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	414					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTCTTTGATCCTTGCCTGCA	0.398000														6			7		0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44531259	44531259	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:44531259C>G	uc002oye.3	+	1	222	c.127C>G	c.(127-129)Cga>Gga	p.R43G	ZNF284_uc010ejd.2_Non-coding_Transcript|ZNF222_uc002oyc.3_Missense_Mutation_p.R34G|ZNF222_uc002oyd.3_5'UTR	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GAAGCTGTACCGAGATGTGAT	0.552000														86			50		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078449	75078449	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:75078449T>G	uc001dgg.3	-	8	1264	c.1045A>C	c.(1045-1047)Agt>Cgt	p.S349R	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S143R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	349										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAGGTGAGACTGAAGGGGAAA	0.428000														18			9		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61952405	61952405	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:61952405C>T	uc011aau.2	+	25	3294	c.3194C>T	c.(3193-3195)tCc>tTc	p.S1065F	COL20A1_uc011aav.2_Missense_Mutation_p.S886F	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1065					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCTGCCTGTTCCTGTTCCTCA	0.612000														3			3		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538195	55538195	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:55538195G>A	uc003xsd.1	+	3	1901	c.1753G>A	c.(1753-1755)Gta>Ata	p.V585I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	585					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATTGTGTGGTATTGGACAA	0.343000														34			21		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272937	47272937	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:47272937C>T	uc004dhr.1	+	3	1534	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	489					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CACAGAACATCAGAGAACTCA	0.488000														17			21		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171227252	171227252	+	Missense_Mutation	SNP	G	A	A	rs138644882		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:171227252G>A	uc009wvz.3	+	1	162	c.26G>A	c.(25-27)gGa>gAa	p.G9E	FMO1_uc010pme.2_Missense_Mutation_p.G9E|FMO1_uc001ghl.3_Missense_Mutation_p.G9E|FMO1_uc001ghm.3_Missense_Mutation_p.G9E	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	9					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCCATTGTGGGAGCTGGGGTC	0.572000														41			13		0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647244	20647244	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:20647244G>A	uc002rdv.3	+	0	410	c.18G>A	c.(16-18)aaG>aaA	p.K6K		NM_004040	NP_004031	P62745	RHOB_HUMAN	Homo sapiens ras homolog gene family, member B (RHOB), mRNA.	6					Rho protein signal transduction|angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CCATCCGCAAGAAGCTGGTGG	0.706000														7			17		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384133	20384133	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:20384133G>A	uc002dhc.1	-	6	1132	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	303					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCTTGTTTTGGAATTCCTTTG	0.468000														28			14		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590145	140590145	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140590145G>A	uc003liz.3	+	0	1855	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	PCDHB12_uc011dak.2_Missense_Mutation_p.D219N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	556	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D556N(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGCCAACGACAACTCGCC	0.711000														55			27		0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183907652	183907652	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:183907652G>A	uc003fmz.2	+	13	1457	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	ABCF3_uc003fna.2_Missense_Mutation_p.D436N|ABCF3_uc003fnb.2_Missense_Mutation_p.D123N	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	442							ATP binding|ATPase activity	p.D442N(2)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTTTTCATTGACCGGTTTCG	0.572000														29			20		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625877	142625877	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:142625877C>T	uc003wby.1	-	5	935	c.671G>A	c.(670-672)gGa>gAa	p.G224E	TRPV5_uc003wbz.3_Missense_Mutation_p.G224E	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	224					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTCCCCATGTCCATCGTAGGA	0.567000														31			20		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189975025	189975025	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:189975025G>A	uc002uqk.3	-	1	523	c.248C>T	c.(247-249)gCc>gTc	p.A83V		NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	83	VWFC.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACAGGGTCGGCACAGTCCAG	0.498000														40			3		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25457454	25457454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:25457454G>A	uc001upt.4	-	16	4131	c.3878C>T	c.(3877-3879)gCc>gTc	p.A1293V	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1293					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTGAACTGGGCAGTATGTAG	0.348000														136			34		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:7578370C>T	uc002gim.2	-	5	753	c.559_splice	c.e5+1	p.G187_splice	TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.3_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Intron|TP53_uc010cnf.1_Intron|TP53_uc002gii.1_Intron|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.2_Splice_Site_p.G148_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	187	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCTGCTCACCATCGCTATC	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				8			16		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156556	111156556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:111156556C>T	uc001plc.3	+	3	635	c.488C>T	c.(487-489)tCg>tTg	p.S163L		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	163										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CAGTCATACTCGCTGCATGCT	0.627000														47			22		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108202232	108202232	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:108202232G>A	uc001pkb.1	+	50	7962	c.7577G>A	c.(7576-7578)aGa>aAa	p.R2526K	ATM_uc009yxr.1_Missense_Mutation_p.R2526K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript|ATM_uc001pke.2_Missense_Mutation_p.R1178K|ATM_uc001pkg.1_Missense_Mutation_p.R883K	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2526	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTGGCTGCTAGAATGGGGACC	0.328000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				14			5		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891020	2891020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:2891020G>A	uc002kln.3	+	3	1054	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	299					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACAGCTCCAGGAAGCAGCTCA	0.522000														49			29		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38924655	38924655	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:38924655G>A	uc003jln.2	+	13	2404	c.2002G>A	c.(2002-2004)Gcg>Acg	p.A668T	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	668	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAAATCCAAGGCGAGGCAGTG	0.373000														40			25		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65392415	65392415	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:65392415G>A	uc011moz.2	+	2	685	c.548G>A	c.(547-549)gGt>gAt	p.G183D	HEPH_uc004dwn.3_Missense_Mutation_p.G132D|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Missense_Mutation_p.G132D|HEPH_uc011mpa.2_Missense_Mutation_p.G132D	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	129	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CACCCTCATGGTGTCTTCTAC	0.483000														46			27		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205272820	205272820	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:205272820G>A	uc001hce.3	-	6	1772	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	549					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCAGAGGACAGGATGCTGTCC	0.682000														33			29		0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108672990	108672990	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:108672990G>A	uc003kos.4	-	9	2289	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	JA429135_uc021ycd.1_5'Flank	NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	690	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		AGGCTCAGAGGAAGGAGCTGC	0.468000														38			8		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760067	20760067	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:20760067C>T	uc010gsm.3	+	5	956	c.744C>T	c.(742-744)ttC>ttT	p.F248F	ZNF74_uc002zsg.3_Silent_p.F177F|ZNF74_uc002zsh.3_Silent_p.F248F|ZNF74_uc002zsi.3_Silent_p.F177F|ZNF74_uc010gsn.3_Silent_p.F177F	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	248					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGGCGAGTTCGTGTGCGGCG	0.687000														6			6		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21487526	21487526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:21487526C>T	uc002kuq.3	+	52	6817	c.6731C>T	c.(6730-6732)gCt>gTt	p.A2244V	LAMA3_uc002kur.3_Missense_Mutation_p.A2188V|LAMA3_uc002kus.4_Missense_Mutation_p.A635V|LAMA3_uc002kut.4_Missense_Mutation_p.A579V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2244	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCAGTCCAGCTCTCAACAAC	0.423000														57			23		0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054455	160054455	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:160054455C>T	uc001fuy.1	+	1	877	c.635C>T	c.(634-636)tCg>tTg	p.S212L		NM_004983	NP_004974	Q92806	IRK9_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA.	212					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCATCCGCTCGCGCCAGACG	0.682000														7			4		0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153533723	153533723	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:153533723A>G	uc004fkg.3	+	1	388	c.202A>G	c.(202-204)Aag>Gag	p.K68E	TKTL1_uc011mzl.2_Missense_Mutation_p.K62E|TKTL1_uc011mzm.2_Missense_Mutation_p.K68E|TKTL1_uc004fkh.3_Missense_Mutation_p.K12E	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	68					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGAGGTACAAGCAGTCAGA	0.522000														32			19		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222467	53222467	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:53222467C>T	uc004drz.3	-	25	4898	c.4365G>A	c.(4363-4365)ctG>ctA	p.L1455L	KDM5C_uc022bxe.1_Intron|KDM5C_uc004dsa.3_Silent_p.L1454L|AY927613_uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1455					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCCGCCTCTCCAGGGCCCGGC	0.677000			"""N, F, S"""		clear cell renal carcinoma									20			12		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874824	144874824	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:144874824G>A	uc021ouh.1	-	29	5086	c.4784C>T	c.(4783-4785)tCc>tTc	p.S1595F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1595F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1551F|PDE4DIP_uc001elv.4_Missense_Mutation_p.S602F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1595	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGGCTGCTGGAGGGTGTGAG	0.592000			T	PDGFRB	MPD									89			17		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113403005	113403005	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:113403005C>T	uc003ynu.3	-	35	5981	c.5822G>A	c.(5821-5823)gGa>gAa	p.G1941E	CSMD3_uc003yns.3_Missense_Mutation_p.G1143E|CSMD3_uc003ynt.3_Missense_Mutation_p.G1901E|CSMD3_uc011lhx.2_Missense_Mutation_p.G1837E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1941	CUB 11.					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						AGTTAAAATTCCACCACAGGG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				14			9		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424312	56424312	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:56424312C>T	uc010ygg.2	-	4	896	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	291	NACHT.						ATP binding	p.D291N(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCATCAAAATCGGGCCAATCC	0.398000														23			25		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146884	70146884	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:70146884G>A	uc004dyn.3	-	8	1468	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	SLC7A3_uc004dyo.3_Missense_Mutation_p.P432S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	432					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCTGATCAGGTTGATACCTG	0.438000														18			14		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813480	60813480	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:60813480C>T	uc010dds.3	-	6	2148	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	MARCH10_uc010ddr.3_Missense_Mutation_p.M583I|MARCH10_uc002jag.4_Missense_Mutation_p.M583I|MARCH10_uc002jah.2_Missense_Mutation_p.M582I|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	583							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTTCTGAGTTCATTCTTGATG	0.433000														69			31		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169798	57169798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:57169798G>A	uc001cyk.4	+	6	1014	c.943G>A	c.(943-945)Gac>Aac	p.D315N		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	315					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATATAGTGGTGACCCTCAAGA	0.408000														39			36		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23243516	23243516	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:23243516T>C	uc011kzu.1	-	12	1913	c.1641A>G	c.(1639-1641)ccA>ccG	p.P547P	LOXL2_uc003xdh.1_Intron	NM_001128930	NP_001122402	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 2, mRNA.	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		aacacagCTTTGGacaacccc	0.468000														31			22		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26681952	26681952	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:26681952G>A	uc001mqt.4	+	26	3052	c.2907G>A	c.(2905-2907)cgG>cgA	p.R969R	ANO3_uc010rdr.2_Silent_p.R953R|ANO3_uc010rds.2_Silent_p.R808R|ANO3_uc010rdt.2_Silent_p.R823R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	969						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AACAACAACGGAGAAAAAGTG	0.428000														31			21		0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960903	7960903	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:7960903G>A	uc010rbi.2	-	0	165	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGGAACGTGGAGGCTCTGGT	0.488000														32			21		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590756	102590756	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:102590756C>T	uc022bky.1	+	3	1233	c.465C>T	c.(463-465)acC>acT	p.T155T	NR4A3_uc004bae.3_Silent_p.T144T|NR4A3_uc004baf.1_Silent_p.T144T	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	144					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCACCCCCACCACGCCGGCCT	0.706000			T	EWSR1	extraskeletal myxoid chondrosarcoma									6			34		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96506702	96506702	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:96506702G>A	uc001vmt.3	-	34	4206	c.4036C>T	c.(4036-4038)Cga>Tga	p.R1346*	UGGT2_uc001vms.3_Nonsense_Mutation_p.R66*	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1346	Glucosyltransferase.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCGAAATCTCGAAGTTCTTTT	0.368000														11			24		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11682618	11682618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:11682618C>T	uc004cup.1	-	0	1204	c.331G>A	c.(331-333)Gag>Aag	p.E111K	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E111K	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	111					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTGACTTCTCCTGCGGGGTG	0.652000														7			7		0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168543	69168543	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:69168543G>A	uc003dns.2	-	1	1172	c.963C>T	c.(961-963)ttC>ttT	p.F321F	LMOD3_uc003dnt.2_Silent_p.F321F	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	321						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TACCTGTGATGAAATTGGACT	0.458000														87			42		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279850	152279850	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:152279850G>A	uc001ezu.1	-	2	7548	c.7512C>T	c.(7510-7512)tcC>tcT	p.S2504S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2504	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCCCATGGGAGGCATCAG	0.547000									Ichthyosis					172			148		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630123	32630123	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:32630123C>T	uc003zrg.1	-	0	5545	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1819					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTTGTGTTCTCCTGAAGCA	0.478000														20			14		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65502077	65502077	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:65502077G>A	uc002aon.2	-	1	198	c.17C>T	c.(16-18)gCc>gTc	p.A6V		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	6					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GAACACCCAGGCCTTGGTCCC	0.557000														23			16		0	0	1	0	0
SNX29P2	440352	broad.mit.edu	37	16	29376178	29376178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:29376178G>A	uc002dsj.1	+	4	917	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	NPIPL1_uc010vct.2_Intron|SNX29P2_uc021tfv.1_Non-coding_Transcript|SNX29P2_uc010bys.1_Non-coding_Transcript|SNX29P2_uc021tfw.1_Missense_Mutation_p.E155K					Homo sapiens RUN domain containing 2C (RUNDC2C), non-coding RNA.																		GTCCGCCTTTGAAAGCCCCTT	0.507000														21			13		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219874160	219874160	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:219874160C>T	uc002vjl.1	-	27	4559	c.4475G>A	c.(4474-4476)gGg>gAg	p.G1492E		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1492						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCACCACCCCTATCATGGG	0.532000														6			17		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196967406	196967406	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:196967406G>A	uc001gts.4	+	6	1247	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	373	Sushi 6.				complement activation, alternative pathway	extracellular region		p.N372N(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTATAAACGGGAAATGGAATC	0.323000														11			8		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39218696	39218696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:39218696G>A	uc003awk.3	-	4	1575	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	474	Pentaxin.					integral to membrane	metal ion binding	p.L473L(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GTCTTCCCAGGGAAGGACGTT	0.617000														40			6		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246334	45246334	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:45246334C>T	uc001myo.3	+	7	1660	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	471										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TGGGAAACTTCCTGAGCCCCC	0.512000														70			52		0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523173	70523173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:70523173G>A	uc004dzr.1	+	4	408	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.E109K	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	Homo sapiens integrin beta 1 binding protein (melusin) 2 (ITGB1BP2), mRNA.	127					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AATGGCATTGGAACAGAAGGA	0.483000														13			6		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2951926	2951926	+	Silent	SNP	G	A	A	rs148497800	by1000genomes	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:2951926G>A	uc003smv.3	-	22	3358	c.3024C>T	c.(3022-3024)atC>atT	p.I1008I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1008	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.L1008F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCTTGTGACGATATCTGCAG	0.582000			Mis		DLBCL									17			13		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618830	141618830	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:141618830A>T	uc003vwu.1	+	0	155	c.155A>T	c.(154-156)aAa>aTa	p.K52I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGTGTGGATAAACGTCTGCAG	0.448000														56			37		0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73511467	73511467	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:73511467G>A	uc001jsd.3	-	5	997	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Silent_p.L154L	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	286						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAGGAGACAGGGGGGTGCTG	0.617000														4			10		0	0	1	0	0
ERI1	90459	broad.mit.edu	37	8	8887319	8887319	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:8887319C>T	uc003wsk.2	+	6	1085	c.825C>T	c.(823-825)acC>acT	p.T275T		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	275	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	GAAGCCAAACCAAACTGACAA	0.358000														32			16		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67431903	67431903	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:67431903C>T	uc001omr.3	-	7	1276	c.837G>A	c.(835-837)aaG>aaA	p.K279K	ALDH3B2_uc001oms.3_Silent_p.K279K|ALDH3B2_uc009ysa.1_Silent_p.K279K	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	279					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGGCCAGGGGCTTCTCCTGCC	0.642000														70			31		0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170521559	170521559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:170521559C>T	uc001gha.2	+	4	1168	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	GORAB_uc009wvx.2_Missense_Mutation_p.P201S|GORAB_uc001ghb.2_Missense_Mutation_p.P201S|GORAB_uc001ghc.2_Missense_Mutation_p.P201S|GORAB_uc001ghd.2_Missense_Mutation_p.P174S	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	381	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCCAAACTGCCCAAATCAAGA	0.398000														56			30		0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1140775	1140775	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:1140775G>A	uc001add.3	-	1	423	c.285C>T	c.(283-285)ccC>ccT	p.P95P	TNFRSF18_uc001ada.3_Silent_p.P23P|TNFRSF18_uc001adb.3_Silent_p.P95P|TNFRSF18_uc001adc.3_Silent_p.P95P	NM_148901	NP_683699	Q9Y5U5	TNR18_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 18 (TNFRSF18), transcript variant 2, mRNA.	95					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGGCCTGGGGGACAAGGGT	0.657000														8			11		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927035	4927035	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:4927035C>T	uc002gan.2	+	22	3258	c.2901C>T	c.(2899-2901)gcC>gcT	p.A967A		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	967	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGCCCCCAGCCCGCTTTGTGC	0.697000														6			19		0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6611115	6611115	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:6611115G>A	uc003jdu.3	-	10	1560	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	NSUN2_uc003jdt.3_Silent_p.F157F|NSUN2_uc011cmk.2_Silent_p.F358F|NSUN2_uc003jdv.3_Silent_p.F157F	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	393						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTTCGGAGGGAACATGGTAG	0.592000														31			16		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926469	106926469	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:106926469C>T	uc021ser.1	-	325		c.11399G>A								Parts of antibodies, mostly variable regions.																		CCCCCAGACTCCACCAGCTGC	0.542000														91			19		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214231	3214231	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:3214231G>A	uc002fvi.2	+	0	693	c.627G>A	c.(625-627)atG>atA	p.M209I						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		CAGCTTTCATGGGTGTGGCCC	0.547000														10			28		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3024149	3024149	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:3024149A>G	uc003ggn.1	+	9	1396	c.941A>G	c.(940-942)aAg>aGg	p.K314R	GRK4_uc003ggo.1_Missense_Mutation_p.K314R|GRK4_uc003ggp.1_Missense_Mutation_p.K282R|GRK4_uc003ggq.1_Missense_Mutation_p.K282R	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	314	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGAGACTTGAAGCCTGAGAAT	0.448000														51			26		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135738522	135738522	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:135738522C>T	uc002tue.1	-	8	3820	c.3789G>A	c.(3787-3789)ggG>ggA	p.G1263G	YSK4_uc002tuf.1_Silent_p.G445G|YSK4_uc010fnc.1_Silent_p.G397G|YSK4_uc010fnd.1_Silent_p.G1150G|YSK4_uc010zbg.1_Silent_p.G395G|YSK4_uc021vpz.1_Silent_p.G124G|YSK4_uc002tuh.4_Silent_p.G991G|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1263	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGGAGGCTTCCCTGTAGCCA	0.507000														9			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584856	179584857	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:179584856_179584857TC>AT	uc021vsy.1	-	77	20005_20006	c.19780_19781GA>AT	c.(19780-19782)gag>ATg	p.E6594M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3255M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7521	Ig-like 47.						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)			ATTTTCACTCTCTCTGATGACT	0.436000														4			17		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072481	17072481	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:17072481C>T	uc002zlp.1	-	0	1220	c.960G>A	c.(958-960)tgG>tgA	p.W320*		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	320			W -> R (in dbSNP:rs2236639).		cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.W320R(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGATCTCCATCCAAGACCTAG	0.567000														72			56		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161042564	161042564	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:161042564G>A	uc001fxo.2	-	8	1719	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	ARHGAP30_uc001fxk.3_5'Flank|ARHGAP30_uc001fxl.3_5'Flank|ARHGAP30_uc001fxm.3_5'Flank|ARHGAP30_uc009wtx.3_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Nonsense_Mutation_p.Q128*|PVRL4_uc010pjz.1_Nonsense_Mutation_p.Q183*	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	474					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTTCATCCTGATCTTCCTCC	0.582000														25			18		0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122359606	122359606	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:122359606C>T	uc003kth.3	-	4	708	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	201					protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AAGGCGTTTTCACGTCTATCT	0.507000														70			44		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123556363	123556363	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:123556363G>A	uc010nqy.3	-	23	4294	c.4230C>T	c.(4228-4230)ccC>ccT	p.P1410P	ODZ1_uc011muj.2_Silent_p.P1409P|ODZ1_uc004euj.3_Silent_p.P1403P	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1403					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGCAGTGAATGGGGCGTCCTG	0.498000														42			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579898	179579898	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:179579898A>T	uc021vsy.1	-	86	22508	c.22283T>A	c.(22282-22284)tTt>tAt	p.F7428Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F4089Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8355	Ig-like 56.						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)			AGAAACGTGAAATGGGGGAGT	0.433000														21			40		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088083	94088083	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:94088083C>T	uc001ybv.1	+	27	4122	c.4039C>T	c.(4039-4041)Ctt>Ttt	p.L1347F	UNC79_uc001ybs.1_Missense_Mutation_p.L1325F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1502						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACAAAAATCTCTTGATATAGG	0.433000														42			16		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64533497	64533498	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:64533497_64533498GG>AA	uc001obb.2	-	12	2164_2165	c.1712_1713CC>TT	c.(1711-1713)ccc>cTT	p.P571L	SF1_uc010rnm.2_Intron|SF1_uc010rnn.2_Missense_Mutation_p.P545L|SF1_uc001oaz.2_Intron|SF1_uc001oba.2_Missense_Mutation_p.P571L|SF1_uc001obd.2_Intron|SF1_uc001obc.2_Intron|SF1_uc001obe.2_Intron|SF1_uc010rno.2_Intron|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	571	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCTGGACCCCGGGGGGCAGGGG	0.728000														15			11		0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48652530	48652530	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:48652530C>T	uc004dkq.4	+	5	1292	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	401					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCCCATGCCCCCCACCACCAG	0.642000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									9			9		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93611825	93611825	+	Silent	SNP	G	A	A	rs138227513		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:93611825G>A	uc003drb.4	-	9	1448	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	PROS1_uc010hoo.3_Silent_p.S238S|PROS1_uc003dqz.4_Silent_p.S238S	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	369	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTGTGATTTTGGATGTATGTT	0.398000														41			14		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612452	54612452	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:54612452G>A	uc022adk.1	+	1	622	c.217G>A	c.(217-219)Gat>Aat	p.D73N	VSTM2A_uc010kzf.3_Missense_Mutation_p.D73N	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	73	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGAGGACCTGGATCCCGGGGC	0.731000														13			7		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113506747	113506747	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:113506747G>A	uc003iau.3	-	13	4262	c.4051C>T	c.(4051-4053)Cat>Tat	p.H1351Y	C4orf21_uc003iav.3_Non-coding_Transcript	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGTTGACTATGATGGCAGGAT	0.373000														6			7		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80628317	80628317	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:80628317C>T	uc003khl.4	-	12	1425	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	457	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GGGTTTTCTTCGTGATACGAG	0.368000														15			10		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117216371	117216371	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:117216371G>A	uc003pxm.3	+	6	735	c.672_splice	c.e6+1	p.E224_splice		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	224					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAAGAATGAGGTAAGAATTAT	0.284000														4			11		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21611424	21611424	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:21611424G>A	uc003svc.3	+	8	1457	c.1426_splice	c.e8-1	p.D476_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	476	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTACAAAGGATATATTTGC	0.338000									Kartagener syndrome					9			3		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48616807	48616807	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:48616807C>T	uc003ctz.2	-	59	5303	c.5302G>A	c.(5302-5304)Gaa>Aaa	p.E1768K	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1768	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCACCTTTTCTCCTGCTGGG	0.572000														25			20		0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103932349	103932349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:103932349C>T	uc001ymz.4	+	8	1484	c.818C>T	c.(817-819)cCc>cTc	p.P273L	MARK3_uc001ymx.4_Missense_Mutation_p.P273L|MARK3_uc001ymw.4_Missense_Mutation_p.P273L|MARK3_uc001yna.4_Missense_Mutation_p.P273L|MARK3_uc001ymy.4_Missense_Mutation_p.P194L|MARK3_uc010awp.3_Missense_Mutation_p.P296L|MARK3_uc010tyb.2_Missense_Mutation_p.P84L|MARK3_uc021sef.1_Missense_Mutation_p.P84L	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	273	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TACAGAATTCCCTTCTACATG	0.398000														29			17		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059796	152059796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:152059796C>T	uc001ezo.1	-	2	427	c.362G>A	c.(361-363)tGg>tAg	p.W121*		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	121							calcium ion binding	p.Q120*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCCACTGTCCACTGACCATC	0.443000														39			30		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117585	117585	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrGL000205.1:117585C>T	uc002kgk.4	+	0		c.963C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGACAGCCGACTCCACCACCG	0.617000														15			3		0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38003598	38003598	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:38003598G>A	uc001cbi.3	-	3	1015	c.942C>T	c.(940-942)acC>acT	p.T314T	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	314	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CATCAGCACGGGTATATTCCA	0.458000														21			14		0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24795649	24795649	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:24795649G>C	uc001bjh.3	+	11	1602	c.1195G>C	c.(1195-1197)Gtc>Ctc	p.V399L	NIPAL3_uc009vrc.3_Missense_Mutation_p.V317L	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.	399						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCCCTACCGAGTCCTAGAGCA	0.522000														14			9		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918104	50918104	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:50918104G>A	uc010eny.3	+	18	2500	c.2499G>A	c.(2497-2499)aaG>aaA	p.K833K	POLD1_uc002psb.4_Silent_p.K807K|POLD1_uc002psc.4_Silent_p.K807K|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	807					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCAGCAAGAAGCGCTACGCGG	0.667000								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			14		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:59483414G>A	uc002lih.1	-	1	695	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RNF152_uc021ula.1_Missense_Mutation_p.P95S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000														29			25		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19486730	19486730	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:19486730G>A	uc001bbi.3	-	38	5456	c.5452C>T	c.(5452-5454)Ctt>Ttt	p.L1818F	UBR4_uc001bbm.1_Missense_Mutation_p.L1029F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1818					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCATCCATAAGGAAATTAAGC	0.453000														10			14		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075099	117075099	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:117075099C>T	uc001lcg.3	+	17	3276	c.2890C>T	c.(2890-2892)Cct>Tct	p.P964S	ATRNL1_uc010qsm.2_Missense_Mutation_p.P139S|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	964	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTGCAATGATCCTAGTAATAC	0.448000														11			11		0	0	1	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219347257	219347257	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:219347257C>T	uc001hlq.4	+	0	66	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	LOC643723_uc001hlp.3_5'Flank|LYPLAL1_uc001hlr.4_Silent_p.L9L|LYPLAL1_uc001hls.4_5'UTR|LYPLAL1_uc001hlt.4_5'UTR|LYPLAL1_uc009xds.3_Silent_p.L9L	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA.	9						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GGGGTCGGTTCTGCAGCGCTG	0.627000														27			9		0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86126324	86126324	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:86126324G>T	uc001pbx.2	+	12	2088	c.1660G>T	c.(1660-1662)Gat>Tat	p.D554Y	CCDC81_uc001pbw.2_Missense_Mutation_p.D464Y|CCDC81_uc010rtq.2_Missense_Mutation_p.D337Y|CCDC81_uc001pby.2_Missense_Mutation_p.D289Y	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	554										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCAGAGGCGGGATTTGCAAAT	0.463000														9			7		2.7689e-08	2.7909e-08	1	1	0
MAP3K14	9020	broad.mit.edu	37	17	43342164	43342164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:43342164G>A	uc002iiw.1	-	16	2789	c.2680C>T	c.(2680-2682)Cca>Tca	p.P894S	LOC100133991_uc010dah.3_Intron|TEX34_uc002iis.1_5'Flank|TEX34_uc010wjk.1_5'Flank|LOC100133991_uc002iit.4_Intron|LOC100133991_uc010dai.3_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.P425S|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.P479S	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	895					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTGCAGCTGGGATCTAAGGG	0.587000														2			7		0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54968052	54968053	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:54968052_54968053CC>TT	uc010igp.1	+	1	1142_1143	c.878_879CC>TT	c.(877-879)gcc>gTT	p.A293V	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	293						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CTGTCGCCGGCCTCAGCCAACG	0.663000														18			6		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122399963	122399963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:122399963C>T	uc009zxk.3	+	14	2546	c.2387C>T	c.(2386-2388)cCc>cTc	p.P796L	WDR66_uc021rfh.1_Missense_Mutation_p.P796L	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	796							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGCTGCTATCCCACCTGCATG	0.498000														45			30		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695236	49695236	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:49695236C>T	uc003cxe.4	+	4	8361	c.8247C>T	c.(8245-8247)atC>atT	p.I2749I		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2749					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCATCCAGATCGTCACCCCAG	0.627000														26			17		0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19353597	19353597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:19353597C>T	uc002ktq.3	+	3	544	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	182	MIB/HERC2 2.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AACAGAAATCCAGGACTGGAG	0.378000														11			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141110552	141110552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:141110552G>A	uc002tvj.1	-	75	12592	c.11620C>T	c.(11620-11622)Caa>Taa	p.Q3874*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3874	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCTTTCTTGAAAATTCTGG	0.313000										TSP Lung(27;0.18)				9			17		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833786	61833786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:61833786C>T	uc001jky.3	-	36	7191	c.6853G>A	c.(6853-6855)Gat>Aat	p.D2285N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2285					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGGAAGGATCCCGCCCGGAC	0.488000														16			45		0	0	1	0	0
RARRES1	5918	broad.mit.edu	37	3	158415517	158415517	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:158415517C>T	uc003fci.3	-	5	906	c.835G>A	c.(835-837)Gga>Aga	p.G279R		NM_206963	NP_996846	P49788	TIG1_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 1 (RARRES1), transcript variant 1, mRNA.	279					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TCTTCAGTTCCGGAGGCTTCT	0.413000														36			17		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19046997	19046997	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:19046997G>A	uc002dfp.2	+	7	988	c.858_splice	c.e7-1	p.R286_splice	TMC7_uc010vao.1_Splice_Site_p.R286_splice|TMC7_uc002dfq.3_Splice_Site_p.R286_splice|TMC7_uc010vap.2_Splice_Site_p.R176_splice	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	286						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTGGGGTCAGGTCGGTGGAA	0.433000														32			16		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42814736	42814737	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:42814736_42814737CC>TT	uc002oti.3	+	2	1293_1294	c.915_916CC>TT	c.(913-918)ctccct>ctTTct	p.P306S	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Missense_Mutation_p.P306S|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	306	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGGTTGGCCTCCCTCAGCCCCT	0.653000														75			59		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961741	73961741	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:73961741T>C	uc004eby.3	-	2	3268	c.2651A>G	c.(2650-2652)aAc>aGc	p.N884S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	884					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTTCTATAGTTGCTTGATTC	0.488000														17			9		0	0	1	0	0
USP39	10713	broad.mit.edu	37	2	85875082	85875082	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:85875082C>T	uc002sqe.3	+	11	1629	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	USP39_uc002sqb.3_Silent_p.D262D|USP39_uc010ysu.2_Silent_p.D453D|USP39_uc010ysv.2_Silent_p.D428D|USP39_uc002sqg.3_Silent_p.D531D|USP39_uc010fgo.3_Missense_Mutation_p.T486I	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	531					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AATTACAAGACCTCCAGGTGA	0.478000														5			13		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93209994	93209994	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:93209994G>A	uc001tck.3	-	14	2176	c.1911C>T	c.(1909-1911)gtC>gtT	p.V637V		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	637	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAAGCTGGGAGACCTTCTCCT	0.358000														23			12		0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25781175	25781175	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:25781175C>A	uc003cdl.3	-	4	882	c.774G>T	c.(772-774)agG>agT	p.R258S	NGLY1_uc010hfg.3_Missense_Mutation_p.R258S|NGLY1_uc003cdm.3_Missense_Mutation_p.R258S|NGLY1_uc011awo.2_Missense_Mutation_p.R216S|NGLY1_uc003cdk.3_Intron	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	258					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TATCTCTAGACCTAGTCTGTC	0.433000														49			28		0.000227799	0.000228353	1	1	0
GIPC3	126326	broad.mit.edu	37	19	3589521	3589521	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:3589521C>T	uc002lyd.4	+	3	700	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	225										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCGGCTTCGTTCTGGGGG	0.612000														32			16		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987647	22987647	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:22987647G>A	uc001bgd.3	+	2	662	c.530G>A	c.(529-531)cGa>cAa	p.R177Q		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	177	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCAGCTCTCGAGGGAACCTG	0.567000														39			17		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186461545	186461545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:186461545G>A	uc003fqr.3	+	10	1489	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KNG1_uc021xil.1_Missense_Mutation_p.E383K	NM_000893	NP_000884	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 2, mRNA.	410					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GGCAGGGGCAGAGCCAGCATC	0.502000														11			14		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32415079	32415079	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:32415079T>C	uc003jhr.1	-	4	859	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	ZFR_uc010iun.1_Missense_Mutation_p.Y260C	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	260	Ala-rich.				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)		CTTACCAGAATATGTAACTGC	0.403000														24			21		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32927434	32927434	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:32927434C>T	uc003cff.3	+	2	1092	c.1029C>T	c.(1027-1029)atC>atT	p.I343I		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	343					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTGAGCATCGAGCAGGCCC	0.502000														28			13		0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736811	24736811	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:24736811G>A	uc001rgb.1	-	0		c.292C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		GCTGCCCTAGGAAACGAAGTA	0.527000														28			19		0	0	1	0	0
AKT1S1	84335	broad.mit.edu	37	19	50374934	50374934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:50374934G>A	uc002pql.4	-	3	1223	c.497C>T	c.(496-498)aCc>aTc	p.T166I	AKT1S1_uc002pqn.4_Missense_Mutation_p.T166I|AKT1S1_uc002pqm.4_Missense_Mutation_p.T166I	NM_032375	NP_115751	Q96B36	AKTS1_HUMAN	Homo sapiens AKT1 substrate 1 (proline-rich) (AKT1S1), transcript variant 1, mRNA.	166					negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding	p.P165P(1)		kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CACTGAGCAGGTGGGGGGGCC	0.652000														36			33		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52277704	52277704	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:52277704G>A	uc001ctc.4	-	16	2267	c.1945C>T	c.(1945-1947)Ctc>Ttc	p.L649F	NRD1_uc009vzb.3_Missense_Mutation_p.L344F|NRD1_uc001cte.3_Missense_Mutation_p.L517F|NRD1_uc001ctd.4_Missense_Mutation_p.L581F|NRD1_uc001ctf.2_Missense_Mutation_p.L581F|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	580					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCTCCAGTGAGAATGTCCTGC	0.403000														28			15		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435994	158435994	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:158435994C>T	uc010pij.2	+	0	643	c.643C>T	c.(643-645)Cta>Tta	p.L215L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GCTACTTATCCTAGTCTCCTA	0.488000														40			34		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028726	37028726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:37028726C>T	uc004ddl.2	+	0	2295	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	748										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCGGGTTTCCAGTCTCCGC	0.632000														42			28		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882675	152882675	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:152882675G>A	uc021ozl.1	+	0	402	c.402G>A	c.(400-402)ctG>ctA	p.L134L	IVL_uc001fau.3_Silent_p.L134L	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	134					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.Q133K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCAGCAACTGGATCAAGAGC	0.498000														11			13		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19319022	19319022	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:19319022G>A	uc002zpf.1	-	24	3215	c.2995C>T	c.(2995-2997)Cga>Tga	p.R999*	HIRA_uc011agx.1_Missense_Mutation_p.P835L|HIRA_uc010grn.1_Nonsense_Mutation_p.R792*|HIRA_uc010gro.2_Nonsense_Mutation_p.R955*	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	999	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CGCTGGAATCGGAGGTTCTGC	0.607000														31			24		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071070	73071070	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:73071070C>T	uc004ebm.1	-	0		c.1519G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCAAGCCCGCCATGATGTCCA	0.517000														54			42		0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73604023	73604023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:73604023G>A	uc003uad.1	+	2	276	c.268G>A	c.(268-270)Gat>Aat	p.D90N	EIF4H_uc011kfg.1_Missense_Mutation_p.D90N|EIF4H_uc003uae.1_Missense_Mutation_p.D90N|MIR590_uc022afx.1_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	90	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TGTAGAATTCGATGAAGTGGA	0.403000														21			14		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100002657	100002657	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:100002657C>T	uc003uut.3	-	12	1478	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	ZCWPW1_uc011kjq.2_Silent_p.E290E|ZCWPW1_uc003uur.3_Silent_p.E290E|ZCWPW1_uc003uus.3_Silent_p.E290E|ZCWPW1_uc011kjr.2_Silent_p.E410E|ZCWPW1_uc003uuu.1_Silent_p.E411E|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	410							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTGTTCTGCCTCTTGAGCCA	0.463000														67			47		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698086	34698086	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:34698086C>T	uc003teh.1	+	0	190	c.62C>T	c.(61-63)tCt>tTt	p.S21F	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S21F|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S21F|NPSR1_uc003tei.1_Missense_Mutation_p.S21F|NPSR1_uc010kww.1_Missense_Mutation_p.S21F|NPSR1_uc011kar.1_Missense_Mutation_p.S21F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	21						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACGCTGGATTCTTCCCCAGTG	0.537000														31			18		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53565956	53565956	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:53565956G>A	uc004dsp.3	-	75	12120	c.11718C>T	c.(11716-11718)agC>agT	p.S3906S	HUWE1_uc004dsn.3_Silent_p.S2714S|HUWE1_uc004dsq.1_Silent_p.S206S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3906					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGCCAGCTGGCTCTCACGGG	0.617000														6			13		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310838	61310838	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:61310838C>T	uc002ljf.3	-	2	61	c.-25_splice	c.e2-1		SERPINB3_uc002lje.3_Splice_Site|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.						regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTGGAACTCCTGGAAAAGCA	0.358000														36			31		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57931788	57931788	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:57931788G>A	uc002emt.2	-	29	3072	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*	CNGB1_uc010cdh.2_Nonsense_Mutation_p.Q997*	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1003					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGCCCTGCCTGGATGATGTAC	0.547000														80			50		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002137	176002137	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:176002137G>T	uc021yie.1	+	7	822	c.548G>T	c.(547-549)gGc>gTc	p.G183V	CDHR2_uc003mem.2_Missense_Mutation_p.G183V|CDHR2_uc003men.1_Missense_Mutation_p.G183V	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	183	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGCCAATGGCTCCATAGTC	0.622000														38			26		2.48779e-11	2.51834e-11	1	1	0
SOGA2	23255	broad.mit.edu	37	18	8784469	8784469	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:8784469C>T	uc002knr.2	+	5	1501	c.1359C>T	c.(1357-1359)taC>taT	p.Y453Y	SOGA2_uc002knq.2_Silent_p.Y453Y|SOGA2_uc010dkw.1_Silent_p.Y291Y	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	804																	ACTCTGAGTACCTAGTGACCC	0.642000														85			50		0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15098188	15098188	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:15098188C>T	uc002dda.4	+	4	611	c.387C>T	c.(385-387)ttC>ttT	p.F129F	PDXDC1_uc010uzl.2_Silent_p.F114F|PDXDC1_uc010uzm.2_Intron|PDXDC1_uc010bvc.1_Silent_p.F70F|PDXDC1_uc002dcz.3_Silent_p.F129F|PDXDC1_uc002ddb.4_Silent_p.F102F|PDXDC1_uc010uzn.2_Silent_p.F101F|PDXDC1_uc002ddc.3_Silent_p.F129F	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	129					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCAGAATTTTCAGGTAAAGAC	0.388000														81			19		0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218578520	218578520	+	Missense_Mutation	SNP	C	T	T	rs149533093		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:218578520C>T	uc001hlm.3	+	1	1724	c.356C>T	c.(355-357)cCg>cTg	p.P119L	TGFB2_uc001hll.3_Missense_Mutation_p.P147L|TGFB2_uc001hln.3_Missense_Mutation_p.P147L|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	119					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GATGCCATCCCGCCCACTTTC	0.398000														101			50		0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24756935	24756935	+	Missense_Mutation	SNP	G	A	A	rs145754170		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:24756935G>A	uc010kus.1	-	4	723	c.635C>T	c.(634-636)cCa>cTa	p.P212L	DFNA5_uc003sxa.1_Missense_Mutation_p.P212L|DFNA5_uc010kut.1_Missense_Mutation_p.P48L	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	212					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGTGGCAGCTGGGATCTCCAG	0.592000														27			17		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289444	107289444	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:107289444C>T	uc011lvn.2	-	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ACCAGAGAGTCCCAGAAGAAT	0.403000														7			19		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6008109	6008109	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:6008109G>A	uc001mcd.2	-	0	107	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATTGCTAAGGAGCATTATC	0.463000														26			11		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22989426	22989426	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:22989426G>A	uc010ajj.1	+	2	493	c.346G>A	c.(346-348)Gga>Aga	p.G116R	TCRA_uc001wbw.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_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfo.2_Non-coding_Transcript|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Non-coding_Transcript|TCRA_uc010ajz.1_Non-coding_Transcript|TCRA_uc021rql.1_5'Flank|TCRA_uc001wfs.2_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 29.																		GCTTATCTTCGGACAGGGAAC	0.413000														25			10		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069227	6069227	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:6069227G>A	uc010ndi.3	-	1	745	c.281C>T	c.(280-282)cCg>cTg	p.P94L	NLGN4X_uc004crp.3_Missense_Mutation_p.P94L|NLGN4X_uc010ndh.3_Missense_Mutation_p.P94L|NLGN4X_uc004crq.3_Missense_Mutation_p.P94L|NLGN4X_uc004crr.3_Missense_Mutation_p.P94L|NLGN4X_uc010ndj.3_Missense_Mutation_p.P94L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	94					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCAGGAGGACGGGGGTTCTGG	0.582000														35			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262979	140262979	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140262979G>A	uc003lif.2	+	0	1126	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.D376N|PCDHAC2_uc003lid.3_Missense_Mutation_p.D376N	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	391	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D376Y(1)|p.D376N(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)			CAGTGTGTCCGATCGTGACTC	0.502000														44			39		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29642514	29642514	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:29642514G>A	uc001bru.3	+	25	3523	c.3394_splice	c.e25-1	p.E1132_splice	PTPRU_uc009vtq.3_Splice_Site_p.E1128_splice|PTPRU_uc009vtr.3_Splice_Site_p.E1119_splice|PTPRU_uc001brw.3_Splice_Site_p.E1122_splice	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1132	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGTTCCAGGAGCAGTACAT	0.542000														8			8		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004844	187004844	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:187004844C>T	uc003iyq.3	+	3	2105	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	TLR3_uc011ckz.2_Silent_p.I391I|TLR3_uc003iyr.3_Silent_p.I391I	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	668	LRRCT.				I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATACCAACATCCCTGAGCTGT	0.453000														73			47		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055492	9055492	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:9055492G>A	uc003brf.1	-	15	2524	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	SRGAP3_uc003brg.1_Silent_p.I592I	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	616	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGATTTGTTGGATCTGGTGCA	0.527000			T	RAF1	pilocytic astrocytoma									30			18		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34008484	34008484	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:34008484C>T	uc001bxm.1	-	57	9290	c.9113G>A	c.(9112-9114)gGg>gAg	p.G3038E	CSMD2_uc001bxn.1_Missense_Mutation_p.G2894E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3013	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCAGGGTTCCCACAAGAGAT	0.493000														10			12		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118138	118138	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrGL000205.1:118138G>A	uc002kgk.4	+	0		c.1516G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGGTGTCACTGGAGATGAGCG	0.512000														25			4		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135764997	135764997	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:135764997C>T	uc004fab.3	-	12	1861	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	ARHGEF6_uc011mwd.2_Missense_Mutation_p.E340K|ARHGEF6_uc011mwe.2_Missense_Mutation_p.E313K	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	467	PH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TACCGCTCCTCTTTTTCCTGA	0.343000														19			7		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127548	152127548	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:152127548C>T	uc001ezs.1	-	2	2092	c.2027G>A	c.(2026-2028)gGg>gAg	p.G676E		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	676	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCAGTCTCTCCCTTTGTGACA	0.542000														67			51		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52534765	52534765	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:52534765C>T	uc001wzo.3	-	1	579	c.345G>A	c.(343-345)acG>acA	p.T115T	NID2_uc010tqs.2_Silent_p.T115T|NID2_uc010tqt.1_Silent_p.T115T|NID2_uc001wzp.3_Silent_p.T115T	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	115	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGCCGTGGCTCGTGTCGATGT	0.652000														23			12		0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49359907	49359907	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:49359907C>T	uc001rss.3	-	4	1585	c.1141G>A	c.(1141-1143)Gtt>Att	p.V381I	WNT10B_uc001rst.3_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	381					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CACTCTGTAACCTTGCACTCA	0.582000														12			15		0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35510183	35510183	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:35510183C>T	uc010xsf.1	+	11	1317	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	GRAMD1A_uc010xse.1_Silent_p.G434G|GRAMD1A_uc002nxk.2_Silent_p.G427G|GRAMD1A_uc002nxl.2_Silent_p.G200G|GRAMD1A_uc002nxn.1_Silent_p.G49G	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	434				S -> P (in Ref. 1; BAC11289).		integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCCACTGGGCCCCAAGAGCG	0.682000														26			23		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9262613	9262613	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:9262613T>A	uc001qvk.1	-	5	636	c.523A>T	c.(523-525)Atc>Ttc	p.I175F	A2M_uc009zgk.1_Missense_Mutation_p.I25F	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	175					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.I175I(1)|p.R174H(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CATTGTGCGATGCGATTTCCT	0.428000														43			25		0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179653	34179653	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:34179653C>T	uc001rlm.3	+	2	1544	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	409					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TGTTATAGTTCCTCAGAAACT	0.353000														56			24		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640389	57640389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:57640389G>A	uc002qny.3	+	3	702	c.346G>A	c.(346-348)Gat>Aat	p.D116N	USP29_uc021vci.1_Missense_Mutation_p.D116N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	116					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTGATGATGATTGGAGTGT	0.353000														26			12		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209862	65209862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:65209862C>T	uc001xhp.2	+	16	3503	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S978F|PLEKHG3_uc001xho.1_Missense_Mutation_p.S1034F|PLEKHG3_uc010aqh.1_Missense_Mutation_p.S576F|PLEKHG3_uc001xhq.1_Missense_Mutation_p.S539F	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1034					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCCGGCCCTCCGCCCGGAGC	0.682000														77			59		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176221	57176221	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:57176221C>T	uc010ygn.2	-	1	573	c.346G>A	c.(346-348)Ggg>Agg	p.G116R		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCCTTCCCGCAGTCCCCG	0.637000														34			21		0	0	1	0	0
ACBD7	414149	broad.mit.edu	37	10	15120536	15120536	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:15120536C>T	uc001inv.3	-	3	308	c.260G>A	c.(259-261)gGa>gAa	p.G87E	ACBD7_uc010qby.1_Intron	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN	Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA.	87	ACB.						fatty-acyl-CoA binding	p.Y86D(1)		endometrium(1)|lung(4)|prostate(1)	6						ATTCTAAATTCCGTATTTTTC	0.383000														11			26		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187158078	187158078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:187158078C>T	uc003iyy.3	+	4	543	c.472C>T	c.(472-474)Cac>Tac	p.H158Y	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.H120Y	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	158	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAAACATTTCACAAGGCAGA	0.403000														12			8		0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186413501	186413501	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:186413501C>T	uc001gsa.3	-	3	424	c.351G>A	c.(349-351)ctG>ctA	p.L117L	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Silent_p.L65L	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	117					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTCCAGTTTCCAGCTCATACA	0.403000														58			30		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955399	12955399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:12955399G>A	uc001auo.3	-	1	353	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	94								p.V93A(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGGGGCGAACCTTCTGG	0.607000														16			10		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122729243	122729244	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:122729243_122729244GG>AA	uc001ucd.3	-	6	954_955	c.841_842CC>TT	c.(841-843)ccc>TTc	p.P281F	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	281					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGCTTCCGTGGGGAGGTCCTTA	0.490000														23			23		0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101010253	101010253	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:101010253G>A	uc010txa.2	-	3	439	c.293C>T	c.(292-294)gCc>gTc	p.A98V	BEGAIN_uc001yhp.3_Missense_Mutation_p.A34V|BEGAIN_uc001yhq.3_Missense_Mutation_p.A98V	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	98						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCTGTTGAGGGCAACAATCTC	0.617000														7			4		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32364152	32364152	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:32364152C>T	uc004dda.1	-	38	5738	c.5494G>A	c.(5494-5496)Gac>Aac	p.D1832N	DMD_uc004dcw.2_Missense_Mutation_p.D488N|DMD_uc004dcx.2_Missense_Mutation_p.D491N|DMD_uc004dcz.2_Missense_Mutation_p.D1709N|DMD_uc004dcy.1_Missense_Mutation_p.D1828N|DMD_uc004ddb.1_Missense_Mutation_p.D1824N|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1832	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTAAGTTGTCTCCTCTTTGC	0.338000														21			19		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993912	35993912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:35993912G>A	uc004ddj.3	+	14	2661	c.2595G>A	c.(2593-2595)atG>atA	p.M865I	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	865										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCTTCTTCATGAAAACATGTT	0.438000														65			40		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592998	179592998	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:179592998C>T	uc021vsy.1	-	63	16046	c.15821G>A	c.(15820-15822)gGa>gAa	p.G5274E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1935E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6201	Ig-like 33.						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)			TATTTCTTTTCCATCCTTAAA	0.368000														4			10		0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219735749	219735749	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:219735749G>A	uc002vjc.1	+	2	296	c.81_splice	c.e2-1	p.W27_splice		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	27					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTTTCCAGGGCTGTGGGCA	0.652000														21			48		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18837133	18837133	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:18837133C>T	uc021qvx.1	-	13	1863	c.1672G>A	c.(1672-1674)Ggt>Agt	p.G558S	PLCZ1_uc001rdv.4_Missense_Mutation_p.G454S|PLCZ1_uc001rdw.4_Missense_Mutation_p.G299S|PLCZ1_uc001rdu.1_Missense_Mutation_p.G340S|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	558	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAACCTTGACCTTCAACAACA	0.333000														24			10		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57430165	57430165	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:57430165C>T	uc002xzw.3	+	0	2130	c.1845C>T	c.(1843-1845)gcC>gcT	p.A615A	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCGTGCAAGCCTTCGGGGGCT	0.622000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				16			13		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303402	151303402	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:151303402G>A	uc022cgz.1	-	0	691	c.691C>T	c.(691-693)Cta>Tta	p.L231L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.L231L|MAGEA10_uc004ffm.2_Silent_p.L231L|MAGEA10_uc004ffl.3_Silent_p.L231L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	231	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACTATGCTTAGGATAAGTATG	0.512000														19			21		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325756	57325756	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:57325756C>T	uc002qnu.2	-	6	4405	c.4054G>A	c.(4054-4056)Gag>Aag	p.E1352K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1323K|PEG3_uc002qnv.2_Missense_Mutation_p.E1352K|PEG3_uc002qnw.2_Missense_Mutation_p.E1228K|PEG3_uc002qnx.2_Missense_Mutation_p.E1226K|PEG3_uc010etr.2_Missense_Mutation_p.E1352K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1352	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1352G(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGATGAAGCTCCTTATGTTTA	0.448000														17			19		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43979573	43979574	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:43979573_43979574GG>AA	uc002own.4	-	15	2170_2171	c.1911_1912CC>TT	c.(1909-1914)aaccac>aaTTac	p.H638Y	PHLDB3_uc010eit.3_Missense_Mutation_p.H308Y	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	638										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CAGGGGGCGTGGTTTTCGTCAG	0.668000														15			16		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254048	30254048	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:30254048C>T	uc022bug.1	+	0	7	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	MAGEB3_uc004dca.2_Missense_Mutation_p.R3W	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	3										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CATCATGCCTCGGGGTCAGAA	0.562000														18			11		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110862343	110862343	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:110862343C>T	uc001vqw.4	-	9	721	c.599G>A	c.(598-600)gGa>gAa	p.G200E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	200	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCGGTAAATCCTGGAGGCCC	0.453000														16			38		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8639324	8639324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:8639324G>A	uc002wnb.3	+	8	838	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB1_uc010zrb.1_Missense_Mutation_p.E178K|PLCB1_uc002wna.3_Missense_Mutation_p.E279K|PLCB1_uc002wnc.1_Missense_Mutation_p.E178K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	279					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGAAGTATGAACCCAACAA	0.433000														42			26		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521231	23521231	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:23521231C>T	uc003jgo.3	+	5	633	c.451C>T	c.(451-453)Cca>Tca	p.P151S		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	151					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGCTCAGAAACCAGTGTCCCC	0.443000										HNSCC(3;0.000094)				12			13		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173411	47173411	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:47173411C>T	uc001rpi.2	-	9	1099	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	SLC38A4_uc001rpj.2_Missense_Mutation_p.V234M|SLC38A4_uc009zkl.2_Missense_Mutation_p.V234M	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	234					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACAAAAAACACCATGCAGGTA	0.373000														44			38		0	0	1	0	0
AK057473	0	broad.mit.edu	37	17	20805659	20805659	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:20805659G>A	uc002gyg.1	+	3		c.843G>A			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		TCCCATGTAGGAAAACGTGTC	0.582000														10			31		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817407	69817407	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:69817407C>T	uc003hef.2	-	0	103	c.72G>A	c.(70-72)ggG>ggA	p.G24G	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	24						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAGGACTTTCCCACAGAATC	0.493000														32			17		0	0	1	0	0
FEN1	2237	broad.mit.edu	37	11	61563658	61563658	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:61563658C>T	uc021qkj.1	+	0	825	c.825C>T	c.(823-825)ctC>ctT	p.L275L	FEN1_uc001nsg.3_Silent_p.L275L	NM_004111	NP_004102	P39748	FEN1_HUMAN	Homo sapiens flap structure-specific endonuclease 1 (FEN1), mRNA.	275					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|UV protection|base-excision repair|double-strand break repair|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						AAAATTGGCTCCACAAGGAGG	0.562000								Editing and processing nucleases						22			13		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645372	94645372	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:94645372T>C	uc001dqj.4	-	19	2758	c.2389A>G	c.(2389-2391)Aac>Gac	p.N797D	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.N363D	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	797	Rho-GAP.				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)		AGAATTCGGTTTATTTCTATA	0.313000														49			22		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111074	114111074	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:114111074C>T	uc003ynu.3	-	4	987	c.828G>A	c.(826-828)ggG>ggA	p.G276G	CSMD3_uc003ynt.3_Silent_p.G236G|CSMD3_uc011lhx.2_Silent_p.G276G|CSMD3_uc010mcx.1_Silent_p.G276G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	276	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTGTGTCCCCAGGCTCTG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				14			3		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969447	5969447	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:5969447C>T	uc010qzt.2	+	0	871	c.871C>T	c.(871-873)Ctt>Ttt	p.L291F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGCAGCCCTTAACCCCAT	0.473000														45			34		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148068	34148068	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:34148068C>T	uc004ddg.3	-	0	2380	c.2328G>A	c.(2326-2328)atG>atA	p.M776I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	776										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTAAAATATCATTGCACGTT	0.388000														32			28		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881145	228881145	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:228881145G>A	uc002vpq.2	-	6	4472	c.4425C>T	c.(4423-4425)gcC>gcT	p.A1475A	SPHKAP_uc002vpp.2_Silent_p.A1475A|SPHKAP_uc010zlx.1_Silent_p.A1475A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1475						cytoplasm	protein binding	p.A1475V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGCGCTCACGGCTGTGTCTC	0.463000														15			30		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107802372	107802372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:107802372C>T	uc022ccg.1	+	2	422	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	COL4A5_uc004enz.1_Missense_Mutation_p.R74W	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	74	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.R74W(2)		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						TCCGGGGCCTCGGGGACAAAA	0.463000									Alport syndrome with Diffuse Leiomyomatosis					33			16		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423383	26423383	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:26423383C>T	uc003abz.1	+	42	7693	c.7443C>T	c.(7441-7443)aaC>aaT	p.N2481N	MYO18B_uc003aca.1_Silent_p.N2362N|MYO18B_uc010guy.1_Silent_p.N2363N|MYO18B_uc010guz.1_Silent_p.N2361N|MYO18B_uc011aka.1_Silent_p.N1635N|MYO18B_uc011akb.1_Silent_p.N1994N|MYO18B_uc010gva.1_Silent_p.N464N|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2481						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGAGGCTAACCGTTCCTTTC	0.567000														23			11		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35794068	35794068	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:35794068G>A	uc003zyd.3	+	1	841	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	NPR2_uc010mlb.3_Missense_Mutation_p.E281K	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	281					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCGCACCCGGgaacaggccca	0.567000														17			15		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77859208	77859208	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:77859208G>A	uc002ffg.1	+	2	526	c.429G>A	c.(427-429)gtG>gtA	p.V143V		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	143							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCACACCAGTGGAGTTTGTCT	0.512000														27			12		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306245	14306245	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:14306245G>T	uc021war.1	-	0	1908	c.1908C>A	c.(1906-1908)taC>taA	p.Y636*	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Nonsense_Mutation_p.Y636*|FLRT3_uc002wow.2_Nonsense_Mutation_p.Y636*	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	636					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CACTGTCTCTGTAGCTTCGGT	0.418000														43			28		2.47511e-08	2.4963e-08	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643028	1643028	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:1643028C>T	uc009ycy.1	-	1	278	c.191G>A	c.(190-192)gGg>gAg	p.G64E	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	159	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCACAGCCCCCCTTGGAACC	0.682000														89			26		0	0	1	0	0
LONRF1	91694	broad.mit.edu	37	8	12595517	12595517	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:12595517G>A	uc003wwd.1	-	3	1163	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	LONRF1_uc011kxv.1_5'Flank|LONRF1_uc010lsp.1_5'UTR	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	367					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTTGGGCTAGGTTCATTGAG	0.413000														32			22		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45368641	45368641	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:45368641G>C	uc002ozw.1	+	1	592	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L	PVRL2_uc002ozv.3_Missense_Mutation_p.V68L	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	68	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CATCTCCCTGGTGACCTGGCA	0.657000														28			15		0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18941723	18941723	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:18941723G>A	uc003zni.2	-	2	683	c.333C>T	c.(331-333)ccC>ccT	p.P111P	FAM154A_uc010mip.2_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	111										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AGACAGGGTAGGGATTGTAAT	0.478000														41			28		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14861911	14861911	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:14861911G>A	uc003bzc.3	+	0	1443	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R	FGD5_uc011avk.2_Missense_Mutation_p.G445R	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	445					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.Y445Y(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCTGGAGAAGGAGGGCAGGC	0.622000														11			13		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004506	41004506	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:41004506C>T	uc003jmj.4	-	36	4626	c.4136G>A	c.(4135-4137)cGa>cAa	p.R1379Q	HEATR7B2_uc003jmi.4_Missense_Mutation_p.R934Q	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1379							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						GCTCACGTCTCGGTCTGTCAG	0.463000														40			35		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39552819	39552819	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:39552819G>A	uc002hwn.3	-	2	494	c.441C>T	c.(439-441)acC>acT	p.T147T	KRT31_uc010cxn.3_Silent_p.T147T	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	147	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGACAGCTCGGTCTGGTACC	0.557000														27			29		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110970246	110970246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:110970246C>T	uc011msy.2	+	15	2040	c.1939C>T	c.(1939-1941)Cca>Tca	p.P647S	ALG13_uc011msx.2_Missense_Mutation_p.P543S|ALG13_uc011msz.2_Missense_Mutation_p.P569S|ALG13_uc011mta.2_Missense_Mutation_p.P543S|ALG13_uc011mtb.2_Missense_Mutation_p.P543S	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	647					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TCCTCAGCATCCATCTCCGAG	0.453000														47			29		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248484	75248484	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:75248484C>T	uc001xqj.4	+	3	1862	c.1738C>T	c.(1738-1740)Cct>Tct	p.P580S	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGGATGCCTCCTTCTCTCTC	0.612000														100			83		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727454	137727454	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:137727454C>T	uc003lcy.1	+	7	2333	c.2133C>T	c.(2131-2133)acC>acT	p.T711T	KDM3B_uc010jew.1_Silent_p.T367T|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	711	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAGCTCTTACCAGTGGGGGCC	0.557000														44			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2815273	2815273	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:2815273C>T	uc022aqr.1	-	62	10149	c.9759G>A	c.(9757-9759)acG>acA	p.T3253T	CSMD1_uc011kwj.2_Silent_p.T2583T|CSMD1_uc010lrg.3_Silent_p.T1145T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3254	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGTGCGAGTCGTGGAACCTT	0.443000														2			3		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735228	12735228	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:12735228G>A	uc004cuz.2	+	14	3156	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K	FRMPD4_uc011mij.2_Missense_Mutation_p.E876K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	884					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGTGTCAGAAGAACAGCAGAC	0.507000														26			22		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38704973	38704973	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:38704973G>A	uc021yzh.1	+	5	1002	c.893G>A	c.(892-894)gGa>gAa	p.G298E	DNAH8_uc003ooe.2_Missense_Mutation_p.G81E	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						TCCAAGCAGGGAGAATCTGAA	0.323000														37			25		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29111179	29111179	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:29111179C>T	uc002kwu.4	+	8	1432	c.1244C>T	c.(1243-1245)gCt>gTt	p.A415V		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	415	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AATTTTCAAGCTTTTGATGAG	0.358000														34			29		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98205983	98205983	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:98205983C>T	uc001drv.3	-	3	423	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.D96N	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	96	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GATTTAATATCAAGATTAGTT	0.323000														32			28		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886128	144886128	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:144886128C>T	uc021ouh.1	-	22	3408	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E1036K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E1102K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E43K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1036					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AATCCTGCTTCCTCAATTTGA	0.532000			T	PDGFRB	MPD									69			12		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154175	22154175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:22154175C>T	uc021urr.1	-	3	3810	c.3661G>A	c.(3661-3663)Gga>Aga	p.G1221R	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTTCTCTCCAGTATGAATT	0.383000														27			13		0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48931591	48931591	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:48931591G>A	uc004dmi.3	-	0	72	c.56C>T	c.(55-57)tCg>tTg	p.S19L	WDR45_uc011mmt.2_Intron	NM_007213	NP_009144	Q9Y484	WIPI4_HUMAN	Homo sapiens PRA1 domain family, member 2 (PRAF2), mRNA.	0					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGACGCGCCGACCCCAGAAC	0.637000														15			9		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183651421	183651421	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:183651421C>T	uc003ivd.1	+	13	2729	c.2654C>T	c.(2653-2655)tCg>tTg	p.S885L	ODZ3_uc003ive.1_Missense_Mutation_p.S291L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	885					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTAAATGTCTCGTTTTTCCAT	0.408000														40			16		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705049	2705049	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:2705049C>T	uc009zdu.1	+	19	2986	c.2673C>T	c.(2671-2673)ctC>ctT	p.L891L	CACNA1C_uc001qkc.2_Silent_p.L891L|CACNA1C_uc001qjz.2_Silent_p.L891L|CACNA1C_uc001qkd.2_Silent_p.L891L|CACNA1C_uc001qke.2_Silent_p.L891L|CACNA1C_uc001qkf.2_Silent_p.L891L|CACNA1C_uc009zdw.1_Silent_p.L891L|CACNA1C_uc001qkg.2_Silent_p.L891L|CACNA1C_uc001qkh.2_Silent_p.L891L|CACNA1C_uc001qkl.2_Silent_p.L891L|CACNA1C_uc001qkj.2_Silent_p.L891L|CACNA1C_uc001qkk.2_Silent_p.L891L|CACNA1C_uc001qkn.2_Silent_p.L891L|CACNA1C_uc001qkm.2_Silent_p.L891L|CACNA1C_uc001qko.2_Silent_p.L891L|CACNA1C_uc001qkp.2_Silent_p.L891L|CACNA1C_uc001qkq.2_Silent_p.L891L|CACNA1C_uc001qku.2_Silent_p.L891L|CACNA1C_uc001qkr.2_Silent_p.L891L|CACNA1C_uc001qks.2_Silent_p.L891L|CACNA1C_uc001qkt.2_Silent_p.L891L|CACNA1C_uc009zdv.1_Silent_p.L888L|CACNA1C_uc001qkb.2_Silent_p.L891L|CACNA1C_uc001qka.1_Silent_p.L426L|CACNA1C_uc001qki.1_Silent_p.L627L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	891					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGTTTCGCCTCCAGTGCCACC	0.582000														33			12		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115411593	115411593	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:115411593C>T	uc001lal.3	-	6	808	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	NRAP_uc001laj.3_Missense_Mutation_p.R215Q|NRAP_uc001lak.3_Missense_Mutation_p.R215Q	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	215						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGCCTTGCTCCGTAGCAGCTC	0.517000														8			10		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42163550	42163550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:42163550C>T	uc002xkn.1	+	8	931	c.800C>T	c.(799-801)tCc>tTc	p.S267F	L3MBTL1_uc010zwh.2_Missense_Mutation_p.S576F|L3MBTL1_uc002xkm.3_Missense_Mutation_p.S508F|L3MBTL1_uc010ggl.3_Missense_Mutation_p.S508F|L3MBTL1_uc002xkl.3_Missense_Mutation_p.S508F|L3MBTL1_uc002xko.3_Missense_Mutation_p.S160F	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	508					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GGCTGGTGCTCCAAGACAGGA	0.557000														14			7		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497492	1497492	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:1497492C>T	uc003wpl.3	+	1	730	c.633C>T	c.(631-633)ccC>ccT	p.P211P	DLGAP2_uc003wpm.3_Silent_p.P211P	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	290					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCCCCGGCCCGGCATGAGCA	0.706000														31			18		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28502252	28502252	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:28502252C>T	uc001zbj.3	-	16	2578	c.2472G>A	c.(2470-2472)gaG>gaA	p.E824E	HERC2_uc001zbl.1_Silent_p.E519E	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	824					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACACTCTTTCTCCTGGGGCG	0.522000														30			19		0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50925838	50925838	+	Silent	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:50925838C>A	uc003bll.1	+	1	154	c.40C>A	c.(40-42)Cga>Aga	p.R14R	MIOX_uc003blm.1_Silent_p.R14R|MIOX_uc003bln.1_Silent_p.R14R	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	14					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	p.R14*(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGGTCTACCGACCTGATGT	0.597000														75			12		1.5842e-08	1.59874e-08	1	1	0
MMP2	4313	broad.mit.edu	37	16	55532214	55532214	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:55532214G>A	uc002ehz.4	+	10	1934	c.1623G>A	c.(1621-1623)tgG>tgA	p.W541*	MMP2_uc010vhd.2_Nonsense_Mutation_p.W465*|MMP2_uc010ccc.3_Nonsense_Mutation_p.W491*	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	541	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ATGAATACTGGATCTACTCAG	0.607000														23			26		0	0	1	0	0
MKRN7P	7686	broad.mit.edu	37	20	45092666	45092666	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:45092666C>T	uc010zxt.2	-	0		c.1266G>A								Homo sapiens makorin ring finger protein 7, pseudogene (MKRN7P), non-coding RNA.																		GTGACAACCTCTTCTTCATTG	0.468000														7			3		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20380937	20380937	+	Silent	SNP	G	A	A	rs144874720		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:20380937G>A	uc002dhc.1	-	7	1216	c.993C>T	c.(991-993)gtC>gtT	p.V331V		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	331					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATGGGATATCGACCTCTGTGA	0.468000														56			33		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64595920	64595920	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:64595920C>T	uc003jtp.3	-	9	2076	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G42E	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	421	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ACCTTTCGTCCCACAAGAATT	0.393000														27			12		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71654431	71654431	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:71654431G>A	uc001jql.3	+	11	1140	c.604_splice	c.e11-1	p.G202_splice	COL13A1_uc021prz.1_Splice_Site_p.G202_splice|COL13A1_uc021psa.1_Splice_Site_p.G164_splice|COL13A1_uc021psb.1_Splice_Site_p.G173_splice|COL13A1_uc001jqk.2_Splice_Site_p.G202_splice|COL13A1_uc021psc.1_Splice_Site_p.G202_splice|COL13A1_uc021psd.1_Splice_Site_p.G202_splice|COL13A1_uc010qjf.2_Splice_Site_p.G164_splice|COL13A1_uc021pse.1_Splice_Site_p.G173_splice|COL13A1_uc021psf.1_Splice_Site_p.G202_splice|COL13A1_uc021psg.1_Splice_Site_p.G202_splice|COL13A1_uc021psh.1_Splice_Site_p.G202_splice	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	202	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTCTTTGTAGGGACCCCAGGG	0.498000														9			11		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769369	148769369	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:148769369G>A	uc003wfh.2	-	3	632	c.495C>T	c.(493-495)atC>atT	p.I165I	ZNF786_uc011kuk.1_Silent_p.I128I|ZNF786_uc003wfi.2_Silent_p.I79I	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGACCTGGGATTCCTTCTT	0.612000														8			3		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356418	55356418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:55356418C>T	uc010spd.1	-	8	1397	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	TESPA1_uc001sgl.3_Missense_Mutation_p.E284K|TESPA1_uc001sgm.3_Missense_Mutation_p.E169K|TESPA1_uc010spb.1_Missense_Mutation_p.E169K|TESPA1_uc010spc.1_Missense_Mutation_p.E284K|TESPA1_uc001sgn.3_Missense_Mutation_p.E422K	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	422																	GGATGGGTTTCCGTATTGGTG	0.493000														59			35		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124420920	124420920	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:124420920G>A	uc003ehg.3	+	56	8159	c.8032G>A	c.(8032-8034)Gaa>Aaa	p.E2678K	KALRN_uc003ehk.3_Missense_Mutation_p.E981K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2677					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCTTGGAAGGAAAATTTTGA	0.358000														22			16		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649118	113649118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:113649118C>T	uc003ynu.3	-	21	3802	c.3643G>A	c.(3643-3645)Gaa>Aaa	p.E1215K	CSMD3_uc003yns.3_Missense_Mutation_p.E487K|CSMD3_uc003ynt.3_Missense_Mutation_p.E1175K|CSMD3_uc011lhx.2_Missense_Mutation_p.E1111K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1215	Sushi 6.					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						GATGTTCCTTCCAGTCGATAA	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				36			26		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124293344	124293344	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:124293344G>A	uc001uft.4	+	18	2659	c.2634_splice	c.e18-1	p.K878_splice	DNAH10_uc010tav.1_Splice_Site_p.K420_splice|DNAH10_uc010taw.1_Splice_Site_p.K363_splice	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	878	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)		CCCCTCTTAGGAACTTGCAGT	0.433000														101			58		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46847179	46847179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:46847179G>A	uc021tzm.1	-	13	2356	c.2321C>T	c.(2320-2322)tCc>tTc	p.S774F	TTLL6_uc002iob.3_Missense_Mutation_p.S467F|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.S527F|TTLL6_uc002iod.3_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	726						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GAGTAGCTCGGATATCAAATG	0.473000														44			15		0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19683223	19683223	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:19683223G>A	uc010ocz.2	-	5	1009	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CAPZB_uc001bce.3_Missense_Mutation_p.A165V|CAPZB_uc021ohr.1_Missense_Mutation_p.A165V|CAPZB_uc009vpk.3_Missense_Mutation_p.A191V	NM_004930	NP_004921	P47756	CAPZB_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, beta (CAPZB), transcript variant 1, mRNA.	165					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	F-actin capping protein complex|WASH complex|cytosol	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTTGTAATGGGCGGTGCGACC	0.552000														137			76		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315415	107315415	+	Missense_Mutation	SNP	G	A	A	rs111033303	byFrequency	TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:107315415G>A	uc003vep.3	+	5	850	c.626G>A	c.(625-627)gGa>gAa	p.G209E	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	209			G -> V (in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGCAGATTGGATTCATAGTG	0.408000									Pendred syndrome					70			35		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22069155	22069155	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:22069155C>T	uc003xbg.3	+	19	3141	c.2875C>T	c.(2875-2877)Cac>Tac	p.H959Y	BMP1_uc011kzc.2_Missense_Mutation_p.H708Y|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	959	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTGAAGTTCCACTCGGATGA	0.562000														38			35		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18050736	18050736	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:18050736C>T	uc001mnp.2	-	4	669	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	TPH1_uc009yhe.2_Intron	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	215					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAGACATCTTCCAATTGTGGG	0.333000														42			29		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012249	29012249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:29012249C>T	uc003nlw.2	-	0	704	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q234Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CATTGCTTTTCGCTGGCTTGC	0.408000														64			25		0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12246706	12246706	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:12246706G>A	uc002mtg.2	-	5	599	c.17C>T	c.(16-18)tCa>tTa	p.S6L	ZNF20_uc002mte.2_5'UTR|ZNF20_uc002mtf.2_Missense_Mutation_p.S6L|ZNF20_uc021upm.1_Missense_Mutation_p.S3L	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						AAAGGCCACTGAATCCTGAAA	0.468000														20			8		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848702	215848702	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:215848702T>A	uc001hku.1	-	62	12938	c.12551A>T	c.(12550-12552)aAa>aTa	p.K4184I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4184	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.K4184E(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCGAATTATTTTTCCATTTGG	0.473000										HNSCC(13;0.011)				28			28		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836719	23836719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:23836719G>A	uc002nri.3	-	3	1198	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	339					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTTGTAGGGTTTTTCTCC	0.388000														22			11		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883263	48883263	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:48883263C>T	uc003xqk.2	+	11	2453	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	MCM4_uc003xql.2_Missense_Mutation_p.L543F|MCM4_uc011ldi.2_Missense_Mutation_p.L530F	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	543	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGCAGTTGGCCTCACTGCGTA	0.577000														19			16		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105906093	105906093	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:105906093T>C	uc001kxw.3	-	29	3899	c.3783A>G	c.(3781-3783)gaA>gaG	p.E1261E	WDR96_uc009xxq.3_Intron	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1261										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCGAACAGCTTCTGAAGTCT	0.413000														14			17		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37695268	37695268	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:37695268G>A	uc003arf.3	+	6	470	c.354_splice	c.e6-1	p.R118_splice	CYTH4_uc003are.2_Splice_Site_p.R118_splice|CYTH4_uc011amw.2_Splice_Site_p.R61_splice	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	118	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CTCCCCCAGGGATCCCATCAA	0.647000														51			5		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139222235	139222235	+	Silent	SNP	A	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:139222235A>T	uc003qif.2	+	20	2890	c.2565A>T	c.(2563-2565)atA>atT	p.I855I	ECT2L_uc021zfx.1_Silent_p.I855I|ECT2L_uc011edq.1_Silent_p.I709I	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	855					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTACTCATAGAAAATATTC	0.393000			"""N, Splice, Mis"""		ETP ALL									14			12		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626905	187626905	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:187626905C>T	uc002ups.3	+	7	1948	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	FAM171B_uc002upr.1_Silent_p.S579S|FAM171B_uc002upt.3_Silent_p.S81S	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	612						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTCAACAGAGCCTGCCATCCC	0.488000														5			19		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56432089	56432089	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:56432089C>T	uc010rjm.2	+	0	928	c.928C>T	c.(928-930)Caa>Taa	p.Q310*	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AAAAAAATCTCAATAATAACA	0.348000														9			6		0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636151	44636151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:44636151G>A	uc002oyj.1	+	4	1627	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	ZNF225_uc010ejf.1_Missense_Mutation_p.G462R	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TAAGGAATGTGGGAAGAGCTT	0.433000														31			18		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825960	64825960	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:64825960C>T	uc001ocn.3	-	0	50	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	12					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCAGCAGCCCCCAGCCCCAGC	0.607000														16			12		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481963	228481963	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:228481963G>A	uc009xez.1	+	41	11286	c.11242G>A	c.(11242-11244)Ggg>Agg	p.G3748R	OBSCN_uc001hsn.3_Missense_Mutation_p.G3748R|OBSCN_uc001hsq.1_Missense_Mutation_p.G1004R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3748	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGAGGAAGGGGCATGAGAC	0.627000														71			45		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911141	32911141	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:32911141C>T	uc001uub.1	+	10	2876	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	883	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAACTTTTCTCAGACAATG	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				34			11		0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702863	46702863	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:46702863G>A	uc001ndd.3	-	5	585	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	172	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCTTGAAGAGGATGAGCAGAG	0.567000														55			25		0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28864371	28864371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:28864371C>T	uc001bqb.2	+	12	1517	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	RCC1_uc001bqa.2_Missense_Mutation_p.T373I|RCC1_uc001bqc.2_Missense_Mutation_p.T373I|RCC1_uc001bqe.2_Missense_Mutation_p.T390I|RCC1_uc001bqf.2_Missense_Mutation_p.T404I|RCC1_uc001bqg.2_Missense_Mutation_p.T373I	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	373					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGCATGGGCACCAACTACCAG	0.582000														6			4		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243633	56243633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:56243633C>T	uc002qly.3	-	1	1592	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	522						cytoplasm	ATP binding	p.E522K(2)|p.Q521Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGGTTATTTCCTGCTTTAGG	0.413000														33			30		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90745208	90745208	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:90745208G>A	uc011lti.2	-	3	2773	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	915																	TAGCTCCTGGGAAGCCTGCAT	0.552000														11			28		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89861917	89861917	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:89861917G>A	uc010len.3	+	5	1958	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	STEAP2_uc003uka.3_Intron|STEAP2_uc003ujz.3_Silent_p.P484P|STEAP2_uc003ukc.3_Intron|STEAP2_uc003ukb.3_Silent_p.P484P|STEAP2_uc003ukd.3_Intron	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	484					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	p.P484P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATGTCTCCCCGGAGAGGGTCA	0.403000														16			7		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27141472	27141472	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:27141472C>T	uc002ylx.4	+	9	1444	c.1294C>T	c.(1294-1296)Cat>Tat	p.H432Y	GABPA_uc002yly.4_Missense_Mutation_p.H432Y	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	432					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.H432N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GATGCAGCTCCATGGAATTGC	0.473000														10			21		0	0	1	0	0
POU1F1	5449	broad.mit.edu	37	3	87311239	87311239	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:87311239C>T	uc010hoj.1	-	3	789	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	POU1F1_uc003dqq.1_Missense_Mutation_p.E196K	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	196					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TGCTCAGCTTCCTCCAGCCAT	0.378000														30			25		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881697	38881697	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:38881697G>A	uc003jln.2	+	3	651	c.249G>A	c.(247-249)ggG>ggA	p.G83G	OSMR_uc003jlm.2_Silent_p.G83G	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	83					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCTTTTAGGGGAATTACAGCA	0.423000														23			13		0	0	1	0	0
SYN1	6853	broad.mit.edu	37	X	47466581	47466581	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:47466581C>T	uc004die.3	-	1	523	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	SYN1_uc004did.3_Missense_Mutation_p.G132R	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	132	C; actin-binding and synaptic-vesicle binding.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ATCTTTTTCCCTTTGAAGTAT	0.438000														34			9		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355747	34355747	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:34355747A>C	uc001zhk.1	+	2	1499	c.829A>C	c.(829-831)Agc>Cgc	p.S277R	CHRM5_uc001zhl.1_Missense_Mutation_p.S277R|CHRM5_uc021sir.1_Missense_Mutation_p.S277R	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	277					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTCCCGCAGGAGCACCTCCAC	0.627000														41			28		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19230350	19230350	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr22:19230350G>A	uc021wle.1	-	3	704	c.629C>T	c.(628-630)gCc>gTc	p.A210V	CLTCL1_uc021wld.1_Missense_Mutation_p.A210V|CLTCL1_uc021wlc.1_Missense_Mutation_p.A210V|CLTCL1_uc021wlf.1_Missense_Mutation_p.A210V|CLTCL1_uc011agw.1_Missense_Mutation_p.A210V	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	210	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGCAGGCTTGGCATTCCCCTC	0.507000			T	?	ALCL									26			25		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560511	35560511	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:35560511C>T	uc003zww.3	+	9	4129	c.3874C>T	c.(3874-3876)Cct>Tct	p.P1292S	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P1292S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1292						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TTCCAGGTTCCCTCGTGGTAG	0.652000														26			22		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362997	175362997	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:175362997C>T	uc001gkp.1	-	3	1356	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	TNR_uc009wwu.1_Silent_p.T425T|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	425	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T425T(2)|p.T425M(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTCTGTGATCGTCTTAAATT	0.498000														70			46		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53164796	53164796	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:53164796C>T	uc001sax.3	-	6	1525	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	491	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACTCCTCTCCCTCCAGCAGC	0.542000														59			26		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341310	240341310	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:240341310C>T	uc010pye.2	+	2	2097	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S	FMN2_uc010pyd.2_Silent_p.S624S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	624					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R624S(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGTTCCATCCATGGGGCCAC	0.473000														22			11		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46180604	46180604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:46180604C>T	uc002pcu.1	+	8	916	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	GIPR_uc002pct.1_Missense_Mutation_p.P273S|GIPR_uc010xxp.1_Missense_Mutation_p.P237S|GIPR_uc010xxq.1_Intron|MIR642B_uc021uvy.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	273					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TTTCGTCATTCCCTGGGTGAT	0.716000														13			4		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168212946	168212946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:168212946C>T	uc010jjg.3	-	11	1537	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R	SLIT3_uc003mab.3_Missense_Mutation_p.G373R|SLIT3_uc010jji.2_Missense_Mutation_p.G373R|SLIT3_uc003mac.1_Missense_Mutation_p.G170R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	373					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAAACAGTCCCTTGACAATC	0.512000														26			9		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418476	8418477	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:8418476_8418477GG>AA	uc001ape.3	-	20	4928_4929	c.4118_4119CC>TT	c.(4117-4119)ccc>cTT	p.P1373L	RERE_uc001apf.3_Missense_Mutation_p.P1373L|RERE_uc001apd.3_Missense_Mutation_p.P819L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1373					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCCTCTCCAAGGGGTTCAGGCC	0.693000														11			3		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881369	26881369	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:26881369G>A	uc003jgs.1	-	11	2415	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	CDH9_uc011cnv.1_Missense_Mutation_p.S342L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	749					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S749S(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGAACTGAGCGAATCTGCTAT	0.443000														35			24		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30025312	30025312	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:30025312G>A	uc001zcr.3	-	12	2197	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	TJP1_uc010azl.3_Silent_p.I562I|TJP1_uc001zcq.3_Silent_p.I578I|TJP1_uc001zcs.3_Silent_p.I574I	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	574	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTTATTAGGGATGATGCCTC	0.388000														26			11		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142563350	142563350	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:142563350G>A	uc011kst.2	+	7	1854	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	EPHB6_uc011ksu.2_Missense_Mutation_p.R356Q|EPHB6_uc003wbs.3_Missense_Mutation_p.R64Q|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.R64Q|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	356	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R341L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCTTCTACCGGGCCAGTTCC	0.647000														11			11		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81176684	81176684	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:81176684C>T	uc002bfw.1	+	5	1046	c.786C>T	c.(784-786)caC>caT	p.H262H	KIAA1199_uc010unn.1_Silent_p.H262H	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	262										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTTCCTGCACCTTGGATTTA	0.498000														13			18		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92258807	92258807	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:92258807C>T	uc001xzu.4	-	8	1142	c.951G>A	c.(949-951)agG>agA	p.R317R	TC2N_uc001xzt.4_Silent_p.R317R|TC2N_uc010auc.3_Intron|TC2N_uc001xzv.4_Silent_p.R317R	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	317						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGGTTTTCTTCCTGGGAGTCT	0.343000														36			25		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60419818	60419818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:60419818C>T	uc002ybn.2	+	4	759	c.671C>T	c.(670-672)tCc>tTc	p.S224F	CDH4_uc002ybr.2_Missense_Mutation_p.S187F|CDH4_uc002ybp.2_Missense_Mutation_p.S150F	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	224	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.S224C(2)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCATTGACTCCATGTCCGGC	0.617000														21			29		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55943312	55943312	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:55943312G>A	uc010qhy.1	-	13	1892	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	PCDH15_uc010qhq.2_Silent_p.I499I|PCDH15_uc010qhr.2_Silent_p.I494I|PCDH15_uc021pqv.1_Silent_p.I494I|PCDH15_uc021pqw.1_Silent_p.I506I|PCDH15_uc010qht.2_Silent_p.I501I|PCDH15_uc021pqx.1_Silent_p.I494I|PCDH15_uc001jjv.1_Silent_p.I472I|PCDH15_uc021pqy.1_Silent_p.I494I|PCDH15_uc021pqz.1_Silent_p.I472I|PCDH15_uc010qhv.1_Silent_p.I494I|PCDH15_uc010qhw.1_Silent_p.I457I|PCDH15_uc010qhx.1_Silent_p.I494I|PCDH15_uc010qhz.1_Silent_p.I494I|PCDH15_uc010qia.1_Silent_p.I472I|PCDH15_uc001jju.1_Silent_p.I494I|PCDH15_uc010qib.1_Silent_p.I472I|PCDH15_uc001jjw.3_Silent_p.I494I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	494	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.Q498*(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAATATTGACGATGACTGGCT	0.393000										HNSCC(58;0.16)				7			18		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28270426	28270426	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:28270426G>A	uc009xky.3	-	6	1003	c.905C>T	c.(904-906)tCa>tTa	p.S302L	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_5'UTR|ARMC4_uc001itz.3_Missense_Mutation_p.S302L|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	302							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAATTTTGGTGATTTTTCTCT	0.294000														10			18		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10439630	10439630	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:10439630G>A	uc002moa.3	-	2	575	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	148	RRM 2.					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCAGCTCCTCGAACTGCTGCT	0.642000														10			7		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117703	46117703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr21:46117703C>T	uc002zfw.1	+	0	617	c.587C>T	c.(586-588)tCc>tTc	p.S196F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	196	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TCCTCCGTGTCCCTCCTCTGC	0.706000														29			59		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432652	117432652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:117432652C>T	uc003vjf.3	-	3	690	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	200										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTTTCCTCTTCCAGTTTGGCC	0.468000														38			19		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331620	8331620	+	Silent	SNP	T	C	C			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr9:8331620T>C	uc003zkk.3	-	43	6239	c.5496A>G	c.(5494-5496)gaA>gaG	p.E1832E	PTPRD_uc003zkp.3_Silent_p.E1426E|PTPRD_uc003zkq.3_Silent_p.E1425E|PTPRD_uc003zkr.3_Silent_p.E1416E|PTPRD_uc003zks.3_Silent_p.E1425E|PTPRD_uc022bdj.1_Silent_p.E1422E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1832	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCCAAACTGTTCTTTTGTTT	0.438000										TSP Lung(15;0.13)				41			25		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25338370	25338370	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:25338370C>T	uc001upr.3	+	0	70	c.29C>T	c.(28-30)cCt>cTt	p.P10L	RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Missense_Mutation_p.P10L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_5'UTR|RNF17_uc001upq.1_Missense_Mutation_p.P10L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	10					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAGACTGGGCCTTCTAGGTCT	0.607000														74			21		0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20277425	20277425	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:20277425G>A	uc021rgx.1	-	9	1599	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	488	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGTGCTTGAGGGGTTTCAGAA	0.493000														44			12		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11103511	11103511	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:11103511G>A	uc001aru.3	-	4	658	c.626C>T	c.(625-627)tCc>tTc	p.S209F		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	209	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTGCAACTGGAGAGTTTGGG	0.587000														6			3		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171540486	171540486	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:171540486C>T	uc010pmg.2	+	23	6939	c.6673C>T	c.(6673-6675)Cct>Tct	p.P2225S	PRRC2C_uc010pmh.2_Intron|PRRC2C_uc010pmi.2_Missense_Mutation_p.P62S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2225							protein C-terminus binding										CCTTCCCCTCCCTAAGAGGGA	0.468000														16			8		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998472	92998472	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr8:92998472C>T	uc022axs.1	-	8	1523	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E360K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E360K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E350K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E387K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E387K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E360K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E398K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E387K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E387K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E387K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E387K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E367K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E387K|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E350K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	387					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E398K(1)|p.E350K(1)|p.E387K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCAATTCTTCCCGGTCTGCT	0.502000														58			37		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476165	6476165	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:6476165C>T	uc003sqa.3	-	3	418	c.248_splice	c.e3-1	p.G83_splice	DAGLB_uc011jwt.2_5'Flank|DAGLB_uc011jwu.2_Splice_Site_p.G83_splice|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Intron|DAGLB_uc003sqd.4_Splice_Site_p.G42_splice|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	83					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAAATCGTTCCTGAAATACAA	0.473000														16			20		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095447	124095447	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:124095447G>A	uc010saf.2	+	0	50	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	17						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGTCAGCAGGAAACCATTCC	0.478000														19			11		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73738533	73738533	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:73738533G>A	uc002jpg.3	+	23	2932	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	ITGB4_uc002jph.3_Silent_p.K915K|ITGB4_uc002jpi.4_Silent_p.K915K|ITGB4_uc010dgp.1_Missense_Mutation_p.G928S|ITGB4_uc002jpj.3_Silent_p.K915K	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	915					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGACCTCAAGGTGGCCCCCG	0.662000														11			10		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24831582	24831582	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:24831582C>A	uc002dmm.3	+	21	5317	c.5203C>A	c.(5203-5205)Ccg>Acg	p.P1735T	TNRC6A_uc010bxs.3_Missense_Mutation_p.P1482T|TNRC6A_uc002dmn.3_Missense_Mutation_p.P1433T|TNRC6A_uc002dmo.3_Missense_Mutation_p.P1374T|TNRC6A_uc002dmr.3_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1735	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CCGCCCACCTCCGGGACTGAC	0.542000														40			17		2.37509e-13	2.40869e-13	1	1	0
ZNF76	7629	broad.mit.edu	37	6	35261549	35261549	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:35261549C>T	uc003oki.1	+	11	1556	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	ZNF76_uc003okj.1_Intron	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	451					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCGGAAGACCTGCAGGCCCT	0.602000														52			25		0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705374	62705374	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr20:62705374C>T	uc002yhy.3	-	5	753	c.486G>A	c.(484-486)cgG>cgA	p.R162R	RGS19_uc002yhz.3_Silent_p.R140R|RGS19_uc002yib.3_Silent_p.R162R	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	162	RGS.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGATGCCCTCCCGCACACGGG	0.662000														28			24		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123847037	123847037	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:123847037C>T	uc001lfv.3	+	3	5382	c.5022C>T	c.(5020-5022)gcC>gcT	p.A1674A	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.A1674A|TACC2_uc010qtv.2_Silent_p.A1674A	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1674						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCGAAATGCCCTGGGCAACC	0.622000														5			15		0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482562	94482562	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:94482562G>A	uc001vlt.3	+	2	1107	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	GPC6_uc010tig.1_Missense_Mutation_p.E159K|GPC6_uc001vlu.1_Missense_Mutation_p.E89K	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	159						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAATCTGGAGGAAATGCTCAA	0.473000														40			8		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215916657	215916657	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:215916657G>A	uc001hku.1	-	58	11797	c.11410C>T	c.(11410-11412)Cct>Tct	p.P3804S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3804	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3804S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTCCACAGGAATTTCGGGG	0.403000										HNSCC(13;0.011)				36			11		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567080	140567080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:140567080G>A	uc003liw.1	+	0	188	c.188G>A	c.(187-189)gGa>gAa	p.G63E		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	63	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCAAGGGGAACCAGGGTG	0.493000														22			9		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771320	143771320	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:143771320G>A	uc011ktx.2	+	0	8	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATGGGGGGAAATCAGACT	0.448000														25			21		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568863	49568863	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr3:49568863C>T	uc021wxz.1	+	2	1388	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	DAG1_uc021wya.1_Missense_Mutation_p.P307S|DAG1_uc021wyb.1_Missense_Mutation_p.P307S|DAG1_uc021wyc.1_Missense_Mutation_p.P307S|DAG1_uc021wyd.1_Missense_Mutation_p.P307S|DAG1_uc021wye.1_Missense_Mutation_p.P307S|DAG1_uc021wyf.1_Missense_Mutation_p.P307S|DAG1_uc021wyg.1_Missense_Mutation_p.P307S|DAG1_uc021wyh.1_Missense_Mutation_p.P307S|DAG1_uc021wyi.1_Missense_Mutation_p.P307S|DAG1_uc021wyj.1_Missense_Mutation_p.P307S|DAG1_uc021wyk.1_Missense_Mutation_p.P307S|DAG1_uc003cxc.4_Missense_Mutation_p.P307S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	307	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCCCCCTCTTCCCAAACGCGT	0.617000														31			21		0	0	1	0	0
ZNF66	0	broad.mit.edu	37	19	20959267	20959267	+	RNA	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:20959267C>T	uc002npe.3	+	0		c.158C>T								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		GTGAGAGTGCCGGTCCAGCAT	0.602000														54			30		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40652901	40652901	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:40652901C>T	uc002hzs.3	+	15	2044	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.S619F|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.S619F|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.S576F|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.S576F|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.S265F|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.S478F	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	619					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCCTCTTTTCCTACCCAGAG	0.428000														60			45		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7689290	7689290	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:7689290G>A	uc002mgx.3	-	6	890	c.864C>T	c.(862-864)acC>acT	p.T288T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	288					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTCCCGCACGGTCATCACTG	0.642000								Direct reversal of damage;Nucleotide excision repair (NER)						37			19		0	0	1	0	0
STARD10	10809	broad.mit.edu	37	11	72468891	72468891	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:72468891G>A	uc001osy.3	-	4	682	c.498C>T	c.(496-498)tcC>tcT	p.S166S	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Silent_p.S166S|STARD10_uc001ota.3_Silent_p.S120S|STARD10_uc001otb.3_Silent_p.S166S	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	166	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CCGTCTGGATGGACACAGCTC	0.597000														25			14		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959910	157959910	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr7:157959910G>A	uc003wno.3	-	5	744	c.623C>T	c.(622-624)tCc>tTc	p.S208F	PTPRN2_uc003wnp.3_Missense_Mutation_p.S191F|PTPRN2_uc003wnq.3_Missense_Mutation_p.S208F|PTPRN2_uc003wnr.3_Missense_Mutation_p.S170F|PTPRN2_uc011kwa.2_Missense_Mutation_p.S231F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	208			S -> P (in dbSNP:rs1130495).			integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P208P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGGGTCCGGGACCCGGGAGG	0.632000														28			24		0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	568977	568977	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:568977C>T	uc002chf.3	+	9	2014	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	RAB11FIP3_uc010uuf.2_Missense_Mutation_p.R263W|RAB11FIP3_uc010uug.2_Missense_Mutation_p.R294W	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	559	ARF-binding domain (ABD).				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CAGTGAACTCCGGTCCTGCAC	0.607000														81			32		0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26508288	26508288	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:26508288C>T	uc002rgz.3	+	14	1489	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L	HADHB_uc010ykv.2_Missense_Mutation_p.P391L|HADHB_uc010ykw.2_Missense_Mutation_p.P398L|HADHB_uc010ykx.2_Missense_Mutation_p.P339L	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	413					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATTGCCTCCTTTGGAGAAG	0.473000														5			17		0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55836455	55836455	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr14:55836455G>A	uc001xbx.2	-	9	1397	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S341F	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	454					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CTGACTCTGGGAGACTTCCAC	0.587000														15			18		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388901	48388901	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr10:48388901C>T	uc001jez.3	-	0	2091	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	659	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCACTGGTCTGCCCCACGA	0.672000														9			16		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317422	1317422	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:1317422G>A	uc004cpk.2	-	4	645	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CRLF2_uc022brt.1_Missense_Mutation_p.R215W|CRLF2_uc004cpl.2_Missense_Mutation_p.R103W|CRLF2_uc022brs.1_Missense_Mutation_p.R215W	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	215						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCATTACCCCGAATCTCGCCT	0.577000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									69			35		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718182	42718182	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:42718182C>T	uc021xxv.1	+	8	1062	c.925C>T	c.(925-927)Cca>Tca	p.P309S	GHR_uc003jmt.3_Missense_Mutation_p.P302S|GHR_uc003jmu.3_Missense_Mutation_p.P302S|GHR_uc003jmv.2_Missense_Mutation_p.P302S|GHR_uc021xxw.1_Missense_Mutation_p.P302S|GHR_uc021xxx.1_Missense_Mutation_p.P302S|GHR_uc021xxy.1_Missense_Mutation_p.P302S|GHR_uc021xxz.1_Missense_Mutation_p.P302S|GHR_uc021xya.1_Missense_Mutation_p.P302S|GHR_uc021xyb.1_Missense_Mutation_p.S293F|GHR_uc021xyc.1_Intron|GHR_uc011cpq.2_Missense_Mutation_p.P115S|GHR_uc021xyd.1_Missense_Mutation_p.P280S	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	302					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCCCCCAGTTCCAGTTCCAAA	0.318000														28			7		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435860	158435860	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:158435860C>T	uc010pij.2	+	0	509	c.509C>T	c.(508-510)tCc>tTc	p.S170F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCCTTCCACTCCTCCAACCAG	0.537000														98			44		0	0	1	0	0
FNBP1L	54874	broad.mit.edu	37	1	94014865	94014865	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:94014865C>T	uc010otk.2	+	14	1684	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	FNBP1L_uc001dpv.3_Silent_p.N453N|FNBP1L_uc001dpw.3_Silent_p.N453N|FNBP1L_uc010otl.2_Silent_p.N81N	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	511	Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	p.E511D(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ATGATGCAAACCAGGAAGTCC	0.388000														23			6		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22784242	22784242	+	RNA	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:22784242G>A	uc002nqu.4	+	5		c.676G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GGAAGGTACGGGAGATCACTC	0.597000														5			9		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75896636	75896636	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr5:75896636G>A	uc003kek.3	+	11	1294	c.1072_splice	c.e11-1	p.N358_splice		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	358					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTTTCCAACAGAACTACTTGG	0.433000														19			16		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846142	47846142	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr6:47846142G>A	uc011dwm.2	-	2	2472	c.2438C>T	c.(2437-2439)tCc>tTc	p.S813F	PTCHD4_uc011dwn.2_Missense_Mutation_p.S560F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	813						integral to membrane	hedgehog receptor activity										GTGCTTTTTGGAAGGGGGGAA	0.448000														65			20		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004105	74004105	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:74004105G>A	uc010wss.1	-	21	5475	c.5247C>T	c.(5245-5247)acC>acT	p.T1749T	EVPL_uc002jqi.2_Silent_p.T1727T|EVPL_uc010wst.1_Silent_p.T1197T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1727	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCCCGAGGTGGTGACCTCCT	0.642000														32			33		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22962505	22962505	+	Missense_Mutation	SNP	C	T	T	rs139576657		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr15:22962505C>T	uc001yus.3	+	19	2329	c.2225C>T	c.(2224-2226)cCg>cTg	p.P742L	CYFIP1_uc001yut.3_Missense_Mutation_p.P742L|CYFIP1_uc010aya.1_Missense_Mutation_p.P770L|CYFIP1_uc001yuu.3_Missense_Mutation_p.P311L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	742					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CACCTCCCGCCGTCTAACCGC	0.522000														12			12		0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579070	49579070	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:49579070G>A	uc009zlf.3	-	3	1351	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	TUBA1A_uc001rtp.3_Missense_Mutation_p.P360L	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	360					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						CACCACAGTGGGAGGCTGGTA	0.577000														16			13		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034826	16034826	+	Silent	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr19:16034826C>T	uc002nbu.2	-	6	750	c.714G>A	c.(712-714)caG>caA	p.Q238Q	CYP4F11_uc010eab.1_Silent_p.Q238Q|CYP4F11_uc002nbt.2_Silent_p.Q238Q	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	238					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCAAGAGAATCTGCTGGTTTC	0.507000														42			32		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082318	12082318	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:12082318C>T	uc001ato.2	+	2	674	c.281C>T	c.(280-282)tCt>tTt	p.S94F		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	94										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGGGTGGCCTCTCTCCCACCT	0.692000														47			39		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16734245	16734245	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr2:16734245C>T	uc010exm.2	-	10	1079	c.931G>A	c.(931-933)Gat>Aat	p.D311N	FAM49A_uc002rck.2_Missense_Mutation_p.D311N	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	311						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GTTGATTCATCGTTCAAGTGC	0.433000														5			19		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43447663	43447663	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr18:43447663G>A	uc002lbm.3	-	36	6376	c.6276C>T	c.(6274-6276)ctC>ctT	p.L2092L	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Silent_p.L646L|EPG5_uc002lbn.2_Silent_p.L967L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2092					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGACTTCACAGAGTACAGACC	0.438000														28			22		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280509	32280509	+	Silent	SNP	G	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr1:32280509G>A	uc001bts.1	-	1	484	c.426C>T	c.(424-426)ctC>ctT	p.L142L	SPOCD1_uc001btu.3_Silent_p.L142L|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	142					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTCTCTCTGGGAGGCCAGCAG	0.592000														67			34		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113303619	113303619	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr4:113303619C>T	uc003ian.4	+	3	414	c.187C>T	c.(187-189)Cct>Tct	p.P63S	ALPK1_uc003iam.3_Missense_Mutation_p.P63S|ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Missense_Mutation_p.P63S|ALPK1_uc011cfx.2_Intron|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	63							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCCCTTCGTGCCTGAAAAGTG	0.517000														24			16		0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69465987	69465988	+	In_Frame_Ins	INS	-	GAG	GAG	rs3830296		TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr11:69465987_69465988insGAG	uc001opa.3	+	4	1034_1035	c.825_826insGAG	c.(823-828)insGAG	p.280_281insE		NM_053056	NP_444284	P24385	CCND1_HUMAN	Homo sapiens cyclin D1 (CCND1), mRNA.	280	Poly-Glu.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to UV-A|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	aggaggaggaagaggaggagga	0.703			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			---	22	---	---	14	---					
KRT83	3889	broad.mit.edu	37	12	52714787	52714789	+	In_Frame_Del	DEL	CTC	-	-			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr12:52714787_52714789delCTC	uc001saf.2	-	0	394_396	c.331_333delGAG	c.(331-333)gagdel	p.E111del		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	111	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCTCCTTCTCCTCCTGCTTC	0.591													---	80	---	---	51	---					
IRS2	8660	broad.mit.edu	37	13	110437402	110437402	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr13:110437402delG	uc001vqv.3	-	0	1513	c.999delC	c.(997-999)cccfs	p.P333fs		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	333					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCGTCTGGCTGGGGGGCAGGT	0.766													---	4	---	---	2	---					
C16orf53	79447	broad.mit.edu	37	16	29827970	29827971	+	Frame_Shift_Ins	INS	-	CGGC	CGGC			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr16:29827970_29827971insCGGC	uc002dug.4	+	0	443_444	c.124_125insCGGC	c.(124-126)tcgfs	p.S42fs	BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.	42										kidney(1)|lung(1)|prostate(1)	3						CCCCTCTGCCTCGGCCGGTAAG	0.708											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	14	---	---	8	---					
LUC7L3	51747	broad.mit.edu	37	17	48822077	48822078	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chr17:48822077_48822078insA	uc002isq.3	+	6	764_765	c.596_597insA	c.(595-597)ttafs	p.L199fs	LUC7L3_uc002isp.2_Non-coding_Transcript|LUC7L3_uc010wmw.2_Frame_Shift_Ins_p.L123fs|LUC7L3_uc002isr.3_Frame_Shift_Ins_p.L199fs|LUC7L3_uc002iss.3_Frame_Shift_Ins_p.L199fs	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	199					RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GGAGCCTTTTTAATAGTAGGAG	0.351													---	34	---	---	18	---					
FAM155B	27112	broad.mit.edu	37	X	68725949	68725949	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A51T-06A-11D-A25O-08	TCGA-D3-A51T-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	CEA01CB3-C933-4ABC-82E8-E051238383ED	9BE2BD0D-64C0-484A-9E16-9DD80FD06420	g.chrX:68725949delA	uc004dxk.3	+	0	872	c.824delA	c.(823-825)gaafs	p.E275fs		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	275						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TTACAGGCGGAAGAGTACTCA	0.592													---	6	---	---	3	---