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
HMMR	3161	broad.mit.edu	37	5	162902493	162902493	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:162902493C>T	uc003lzh.3	+	10	1265	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L	HMMR_uc003lzf.3_Silent_p.L360L|HMMR_uc003lzg.3_Silent_p.L345L|HMMR_uc011dem.2_Silent_p.L274L	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	360						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		ATCAGAAGCTCTGTTCTTTTC	0.353000														57			6		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24795355	24795355	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:24795355C>T	uc001wow.3	-	11	2004	c.1585G>A	c.(1585-1587)Gga>Aga	p.G529R	ADCY4_uc010toh.2_Missense_Mutation_p.G215R|ADCY4_uc001wox.3_Missense_Mutation_p.G529R|ADCY4_uc001woy.3_Missense_Mutation_p.G529R	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	529					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCATCTAGTCCCCGGGGGGTA	0.602000														45			12		0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75643075	75643075	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:75643075G>A	uc003uel.3	-	4	781	c.438C>T	c.(436-438)atC>atT	p.I146I	STYXL1_uc011kgg.2_5'UTR|STYXL1_uc003ueh.3_Intron|STYXL1_uc011kgf.2_Intron|STYXL1_uc003uek.4_Intron|STYXL1_uc003uem.3_Silent_p.I146I|STYXL1_uc010ldg.2_Intron|STYXL1_uc010ldh.2_Silent_p.I146I|STYXL1_uc003uen.1_Silent_p.I146I	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	146					intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GCATCCAGATGATCTTCTGGG	0.587000														302			76		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306716	46306716	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:46306716G>A	uc002zgd.2	-	13	2226	c.2182C>T	c.(2182-2184)Cac>Tac	p.H728Y	ITGB2_uc002zgf.3_Missense_Mutation_p.H728Y|ITGB2_uc011afl.1_Missense_Mutation_p.H650Y|ITGB2_uc010gpw.2_Missense_Mutation_p.H671Y|ITGB2_uc002zgg.2_Missense_Mutation_p.H728Y	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	728					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCGCTCAGGTGGATCAGAGCC	0.622000														48			11		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540348	55540348	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55540348C>T	uc003xsd.1	+	3	4054	c.3906C>T	c.(3904-3906)gtC>gtT	p.V1302V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1302					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)			TAGGAGAGGTCTGTTCACTTA	0.433000														118			14		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55519266	55519266	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:55519266C>T	uc002ehz.4	+	3	896	c.585C>T	c.(583-585)ttC>ttT	p.F195F	MMP2_uc010vhd.2_Silent_p.F119F|MMP2_uc010ccc.3_Silent_p.F145F	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.	195	Collagenase-like 1.				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)	CTCATGCCTTCGCCCCAGGCA	0.577000														84			8		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133494306	133494306	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:133494306C>T	uc003epu.2	+	19	3445	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	TF_uc011blt.2_Silent_p.L446L|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.L573L	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	573	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGCTAAGAATCTGAATGAAAA	0.527000														108			36		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684707	108684707	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:108684707C>T	uc022cch.1	-	5	1659	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.G525E	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	525					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGCACGACTTCCTCTCTGTGA	0.408000														155			49		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40392048	40392048	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40392048G>A	uc002rrx.3	-	6	2139	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.I700I|SLC8A1_uc002rsb.2_Silent_p.I697I|SLC8A1_uc002rrz.3_Silent_p.I692I|SLC8A1_uc002rsa.3_Silent_p.I669I|SLC8A1_uc002rsd.4_Silent_p.I669I	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	705					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTCTCCCAGGATGGGGCGCC	0.512000														98			12		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012010	29012010	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29012010T>A	uc003nlw.2	-	0	943	c.943A>T	c.(943-945)Aag>Tag	p.K315*	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CAATTCCTCTTTATTTTTGTA	0.328000														17			5		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631910	32631910	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:32631910T>A	uc003zrg.1	-	0	3758	c.3668A>T	c.(3667-3669)aAa>aTa	p.K1223I	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.	1223					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)		TTGAATGAATTTCTCATCTTT	0.453000														71			22		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38976650	38976650	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38976650G>A	uc021yzh.1	+	88	13384	c.13275G>A	c.(13273-13275)gaG>gaA	p.E4425E	DNAH8_uc003ooe.2_Silent_p.E4208E	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						AACCCAAAGAGAGTGGAGGTG	0.418000														153			8		0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6815988	6815988	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6815988G>A	uc001mes.1	-	0	1152	c.952C>T	c.(952-954)Cct>Tct	p.P318S		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGGGGTCAGGATCCTGGTGC	0.443000														63			11		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726290	63726290	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:63726290C>T	uc003tsx.3	+	4	548	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GTTCTCATTTCACCCAAGACC	0.318000														20			6		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:146829338G>A	uc003weu.2	+	8	1600	c.1084_splice	c.e8-1	p.G362_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	362	Laminin G-like 1.				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.G362E(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)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)				42			21		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134660750	134660750	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:134660750C>T	uc021qbc.1	-	41	6129	c.6028G>A	c.(6028-6030)Gac>Aac	p.D2010N		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	171										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCGGCGGGTCCCTGCTGGAC	0.677000														86			17		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196852734	196852734	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196852734C>T	uc002utj.4	-	12	1674	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	525	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGCAAATTTCATCTATTATT	0.328000														9			5		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774947	2774947	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2774947G>A	uc002wgu.3	-	13	2168	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	CPXM1_uc010gas.3_Silent_p.F624F	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	698					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						TGGTGAGCACGAAATTGCAGG	0.642000														50			11		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89086852	89086852	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:89086852C>T	uc003yeb.4	-	6	1485	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	401	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G401E(1)|p.G401R(1)|p.D400Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACACAAAATTCCCGTCGCTAT	0.398000														55			4		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402704	124402704	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:124402704C>T	uc001lgk.1	+	52	7138	c.7032C>T	c.(7030-7032)ttC>ttT	p.F2344F	DMBT1_uc001lgl.1_Silent_p.F2334F|DMBT1_uc001lgm.1_Silent_p.F1716F|DMBT1_uc021qaf.1_Silent_p.F2344F|DMBT1_uc021qag.1_Silent_p.F2334F|DMBT1_uc021qah.1_Silent_p.F1716F|DMBT1_uc009xzz.1_Silent_p.F2343F|DMBT1_uc010qtx.1_Silent_p.F1064F|DMBT1_uc009yab.1_Silent_p.F1047F|DMBT1_uc009yac.1_Silent_p.F638F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2344	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTTCCGGTTCAGGGCCTTCC	0.582000														96			10		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147297	26147297	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:26147297G>A	uc002dof.3	+	1	1491	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	367					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCCCGCCGGGGAAATGGCCAA	0.502000														62			18		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954687	79954687	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79954687G>A	uc002kcy.3	+	6	995	c.898G>A	c.(898-900)Gag>Aag	p.E300K	ASPSCR1_uc002kcx.3_Missense_Mutation_p.E300K|ASPSCR1_uc021ufj.1_Missense_Mutation_p.E223K|ASPSCR1_uc002kda.3_Missense_Mutation_p.E223K|ASPSCR1_uc002kdb.1_Missense_Mutation_p.E223K	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	300							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			gcaggagcgggagcgggatcc	0.642000			T	TFE3	alveolar soft part sarcoma									75			9		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577042	33577042	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:33577042C>T	uc003jia.1	-	18	3252	c.3089G>A	c.(3088-3090)aGa>aAa	p.R1030K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R945K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1030	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTCAGCATTCTGGGCCTGGA	0.532000										HNSCC(64;0.19)				100			8		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21818690	21818690	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21818690G>A	uc003svc.3	+	57	9503	c.9472G>A	c.(9472-9474)Gaa>Aaa	p.E3158K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3158	Stalk (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						AGTGAGCCGGGAAAAGACCAT	0.483000									Kartagener syndrome					28			5		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824815	74824815	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:74824815C>T	uc021rwl.1	+	0	1329	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	VRTN_uc001xpw.4_Silent_p.A443A	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	443					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						GGCGAAAGGCCCTCCGGAGGA	0.567000														49			13		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840164	150840164	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150840164G>A	uc004fev.4	+	12	1682	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	450						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CACATCCCAAGGACGTCAAGT	0.502000														71			20		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818040	7818040	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:7818040G>A	uc001mfp.1	-	0	450	c.450C>T	c.(448-450)ctC>ctT	p.L150L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGACAGCAATGAGAAAACCAG	0.393000														49			10		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111430413	111430413	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:111430413G>A	uc002tgc.3	-	3	359	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	BUB1_uc010yxh.2_Missense_Mutation_p.H63Y|BUB1_uc010fkb.3_Missense_Mutation_p.H83Y|BUB1_uc002tgd.2_Missense_Mutation_p.H83Y	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	83	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAAAATTGATGGAGGTCACTG	0.478000														54			11		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84117513G>A	uc003pjy.3	-	1	451	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_uc011dzb.2_Intron|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	62					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000														111			8		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408334	10408334	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10408334C>T	uc002gmo.3	-	21	2578	c.2484G>A	c.(2482-2484)gtG>gtA	p.V828V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	828						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCAGTGCTTCACATTCATGA	0.423000														46			8		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477120	10477120	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:10477120C>T	uc001arc.3	+	8	1011	c.921C>T	c.(919-921)ccC>ccT	p.P307P	PGD_uc010oak.2_Silent_p.P285P	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	307					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGAAGGGTCCCCAGAAGTTCC	0.502000														87			17		0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43565573	43565573	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43565573C>T	uc003ovq.4	+	4	935	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	POLH_uc010jyu.2_Nonsense_Mutation_p.Q87*|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_Nonsense_Mutation_p.Q112*	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	211	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GACTGGTTTTCAGTGTTCAGC	0.448000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					109			4		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551338	248551338	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248551338G>A	uc001iei.1	+	0	429	c.429G>A	c.(427-429)atG>atA	p.M143I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGCTGGATGATCCTGGCCA	0.562000														52			4		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833587	139833587	+	Missense_Mutation	SNP	G	A	A	rs148786367		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:139833587G>A	uc003yvd.3	-	6	1484	c.1037C>T	c.(1036-1038)gCt>gTt	p.A346V		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	346	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.A346T(1)		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)			CACCCTGACAGCATCTTTCAT	0.577000										HNSCC(7;0.00092)				93			10		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650017	146650017	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:146650017G>A	uc001epg.1	+	0	588	c.325G>A	c.(325-327)Ggt>Agt	p.G109S						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		GTTTAGAGATGGTGAAGAAGC	0.473000														61			7		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717485	13717485	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:13717485G>A	uc001rbt.2	-	12	2866	c.2687C>T	c.(2686-2688)tCc>tTc	p.S896F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	896					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGGATGTTGGAGTGTGTGTT	0.577000														140			34		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164737435	164737435	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:164737435C>A	uc003fei.3	-	27	3441	c.3378G>T	c.(3376-3378)ctG>ctT	p.L1126L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1126	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			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)	TATTCCAGTTCAGATCTCGCT	0.433000										HNSCC(35;0.089)				59			10		0.00829132	0.00831613	1	1	0
MYOC	4653	broad.mit.edu	37	1	171621749	171621749	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:171621749C>T	uc001ghu.3	-	0	25	c.3G>A	c.(1-3)atG>atA	p.M1I	MYOC_uc010pmk.2_Missense_Mutation_p.M1I	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	1					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.M1I(2)		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)					AGAAGAACCTCATTGCAGAGG	0.612000														37			4		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148055079	148055079	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:148055079G>A	uc004fcp.3	+	15	3825	c.3346G>A	c.(3346-3348)Gac>Aac	p.D1116N	AFF2_uc004fcq.3_Missense_Mutation_p.D1106N|AFF2_uc004fcr.3_Missense_Mutation_p.D1077N|AFF2_uc011mxb.2_Missense_Mutation_p.D1081N|AFF2_uc004fcs.3_Missense_Mutation_p.D1081N|AFF2_uc011mxc.2_Missense_Mutation_p.D757N	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1116					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)					CATGGAACGCGACCCTCTGGA	0.483000														37			16		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38143911	38143911	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:38143911C>T	uc001uwo.4	-	19	2435	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	POSTN_uc010tet.2_Missense_Mutation_p.E274K|POSTN_uc001uwp.4_Missense_Mutation_p.E716K|POSTN_uc001uwr.3_Missense_Mutation_p.E746K|POSTN_uc001uwq.3_Missense_Mutation_p.E716K|POSTN_uc010teu.1_Missense_Mutation_p.E746K|POSTN_uc010tev.1_Missense_Mutation_p.E686K|POSTN_uc010tew.1_Missense_Mutation_p.E686K	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	773					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AGAGTTTCTTCTGTTTCTCCA	0.338000														53			5		0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4700391	4700391	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4700391C>T	uc002cxa.3	+	1	251	c.114C>T	c.(112-114)ttC>ttT	p.F38F	MGRN1_uc002cwz.3_Silent_p.F38F|MGRN1_uc010uxo.2_Silent_p.F38F|MGRN1_uc010uxp.2_Silent_p.F38F|MGRN1_uc010btw.3_Silent_p.F38F|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	38					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGCACTTTTTCATGGGAGGAG	0.453000														115			19		0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2444431	2444431	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:2444431G>A	uc001ajm.1	-	12	1632	c.1623C>T	c.(1621-1623)gtC>gtT	p.V541V	PANK4_uc010nza.1_Silent_p.V502V	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	541					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGGAGCGCACGACCCCGGGGA	0.677000														135			32		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24209527	24209527	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:24209527G>A	uc003xdy.3	+	20	2289	c.2206G>A	c.(2206-2208)Gat>Aat	p.D736N	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.D423N	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	736					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCATGTGTATGATCTGCCAGT	0.378000														39			18		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498879	110498879	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110498879G>A	uc003yne.3	+	58	9813	c.9709G>A	c.(9709-9711)Gaa>Aaa	p.E3237K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3237					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACTGCAGCTGAAAAATACCA	0.418000										HNSCC(38;0.096)				86			17		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47689679	47689679	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47689679C>T	uc001cqx.2	-	2	1115	c.538G>A	c.(538-540)Gat>Aat	p.D180N	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.D180N|TAL1_uc001cra.1_Non-coding_Transcript|TAL1_uc001cqz.1_Non-coding_Transcript	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	180					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	p.T179S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GACTCACCATCAGTAATCTCC	0.567000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									194			11		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949780	45949780	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:45949780G>A	uc001nbv.1	+	12	1918	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	GYLTL1B_uc001nbw.1_Missense_Mutation_p.E572K|GYLTL1B_uc001nbx.1_Missense_Mutation_p.E603K	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	603					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCGCTGGCGGGAGGCTCAGGC	0.657000														128			6		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031453	109031453	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:109031453C>T	uc003dxo.3	-	2	367	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	40						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCTTGGTTCCATTTGTTCCA	0.413000														118			7		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550277	39550277	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39550277G>A	uc002hwn.3	-	6	1295	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	414	Tail.				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)				TCTAGCGCACGAAGGAATTGC	0.612000														43			11		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055871	154055871	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:154055871C>T	uc003faa.3	-	3	1913	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	605						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATGAAGAATCTTCTGAGTTT	0.408000														83			9		0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57453716	57453716	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57453716C>T	uc001smy.3	-	8	1327	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	TMEM194A_uc001smx.3_Silent_p.E354E|TMEM194A_uc010sra.2_Silent_p.E168E	NM_001130963	NP_001124435	O14524	T194A_HUMAN	Homo sapiens transmembrane protein 194A (TMEM194A), transcript variant 1, mRNA.	427						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATGAGTCCTCCTCCTCAGAGG	0.483000														25			3		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873000	51873000	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51873000G>A	uc002xwo.3	+	1	3890	c.3003G>A	c.(3001-3003)cgG>cgA	p.R1001R	TSHZ2_uc021wex.1_Silent_p.R998R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	1001					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTGCTGTCGGACATTTGTGA	0.473000														64			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179490104	179490104	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179490104C>T	uc021vsy.1	-	189	36965	c.36740G>A	c.(36739-36741)gGa>gAa	p.G12247E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5942E|TTN_uc021vta.1_Missense_Mutation_p.G5875E|TTN_uc021vtb.1_Missense_Mutation_p.G5750E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13174	Ig-like 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAACTTTTCCTTCTGAACG	0.353000														142			11		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498814	9498814	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9498814G>A	uc002wni.2	+	4	1098	c.603G>A	c.(601-603)atG>atA	p.M201I	LAMP5_uc010zrc.2_Missense_Mutation_p.M157I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	201						integral to membrane		p.M201fs*33(1)									CGGTCACCATGATCCTGTCTG	0.498000														37			6		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063193	41063193	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:41063193G>A	uc002ony.3	+	25	5640	c.5554G>A	c.(5554-5556)Gag>Aag	p.E1852K	SPTBN4_uc002onx.3_Missense_Mutation_p.E1852K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1852K|SPTBN4_uc010egx.3_Missense_Mutation_p.E595K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E528K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1852					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACAGATTGAGGAGAAGCGGAG	0.647000														67			5		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730316	5730316	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5730316C>T	uc001mbr.3	+	7	1314	c.935C>T	c.(934-936)tCg>tTg	p.S312L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.S140L|TRIM22_uc009yes.3_Missense_Mutation_p.S308L|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	312	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGTGCCACTTCGAATGTTGCT	0.413000														82			8		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59170316	59170316	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:59170316C>T	uc010dps.1	+	3	944	c.792C>T	c.(790-792)ctC>ctT	p.L264L	CDH20_uc002lif.2_Silent_p.L258L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	264	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACATCACCCTCTCAGATGTCA	0.537000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		140			16		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155157995	155157995	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:155157995C>T	uc002tyt.4	+	6	1153	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L	GALNT13_uc002tyr.4_Missense_Mutation_p.P350L|GALNT13_uc010foc.1_Missense_Mutation_p.P169L|GALNT13_uc010fod.3_Missense_Mutation_p.P103L	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	350						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGGCAACTCCATACACTTTT	0.413000														99			19		0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51883792	51883792	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51883792C>T	uc002pwl.2	-	3	597	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	LIM2_uc002pwm.2_Missense_Mutation_p.G143S	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	143					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	p.L184L(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GCCACCCAGCCCAGGATGTAG	0.607000														189			28		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055847	68055847	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:68055847C>T	uc003dnd.3	+	1	294	c.78C>T	c.(76-78)tcC>tcT	p.S26S	FAM19A1_uc003dne.3_Silent_p.S26S|FAM19A1_uc003dng.3_Silent_p.S26S|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	26						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCATGGATCCCTTCAGCACA	0.502000														88			9		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638996	55638996	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55638996C>T	uc003pcq.3	-	3	1590	c.878G>A	c.(877-879)gGa>gAa	p.G293E	BMP5_uc011dxf.2_Missense_Mutation_p.G293E	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	293					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGACTGAGGTCCCTGTCTTCC	0.433000														110			8		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115348067	115348067	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:115348067C>T	uc001lai.4	+	12	1725	c.1622C>T	c.(1621-1623)aCc>aTc	p.T541I	HABP2_uc021pyr.1_Missense_Mutation_p.T515I	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	541	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GGGGTCTACACCCAAGTTACC	0.542000														71			6		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703313	88703314	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88703313_88703314CC>TT	uc001kea.3	-	5	1354_1355	c.1227_1228GG>AA	c.(1225-1230)gtggat>gtAAat	p.D410N	MMRN2_uc010qmn.2_Missense_Mutation_p.D53N|MMRN2_uc009xtb.2_Missense_Mutation_p.D367N	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	410						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TTGATCTCATCCACGTGCCGGG	0.599000														70			9		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416947	107416947	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107416947G>A	uc003ver.2	-	14	1838	c.1627C>T	c.(1627-1629)Cct>Tct	p.P543S	SLC26A3_uc003ves.2_Missense_Mutation_p.P508S	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	543	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAGTAGATAGGAGATGGACAT	0.358000														54			25		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9064904	9064904	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:9064904G>A	uc009vmo.1	-	10	1227	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	409						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGACTGCAGGAAGATCTCGG	0.647000														41			16		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941503	52941503	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:52941503C>T	uc002pzk.3	+	3	896	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H264Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCAGAAAATTCATACTGGACA	0.388000														31			8		0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	677618	677618	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:677618C>T	uc021szt.1	+	6	1064	c.842C>T	c.(841-843)tCc>tTc	p.S281F	RAB40C_uc021szu.1_Missense_Mutation_p.S281F|RAB40C_uc021szv.1_Missense_Mutation_p.S281F|RAB40C_uc002chq.3_Missense_Mutation_p.S262F|RAB40C_uc002chr.3_Missense_Mutation_p.S281F|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	281					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TGCAAGATCTCCTAGCGGGGA	0.677000														59			8		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117632191	117632191	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117632191G>A	uc003pxp.1	-	38	6424	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2075	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.F2075F(3)	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)		ACCTGTGAATGAAATGCATCC	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									54			6		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604621	108604621	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:108604621C>T	uc002tdv.3	+	1	286	c.10C>T	c.(10-12)Cat>Tat	p.H4Y	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.H4Y|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	4					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AATGGCTTTCCATGTGGAAGG	0.418000														93			16		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134690	128134690	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128134690G>A	uc011ebt.2	-	3	1245	c.1096C>T	c.(1096-1098)Cac>Tac	p.H366Y	THEMIS_uc010kfa.3_Missense_Mutation_p.H269Y|THEMIS_uc021zfa.1_Missense_Mutation_p.H366Y|THEMIS_uc010kfb.3_Missense_Mutation_p.H331Y	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	366	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.H366Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCCACCACGTGAAGAGGCTCC	0.522000														71			16		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149479958	149479958	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149479958G>A	uc010lpk.3	+	14	1924	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	642	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAATGGGCAGGATGTGGGCTT	0.652000														36			8		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21818633	21818633	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21818633C>T	uc003svc.3	+	57	9446	c.9415C>T	c.(9415-9417)Cat>Tat	p.H3139Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3139	Stalk (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						ACTGAGAAATCATGATGCCGA	0.488000									Kartagener syndrome					35			9		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644863	35644863	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:35644863A>T	uc021rid.1	+	9	1979	c.1445A>T	c.(1444-1446)aAa>aTa	p.K482I	NBEA_uc021ric.1_Missense_Mutation_p.K482I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	482						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)		TAGGATGTGAAAGCGATAGTA	0.303000														51			5		0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749706	33749706	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:33749706G>A	uc002hji.4	-	1	719	c.342C>T	c.(340-342)acC>acT	p.T114T	SLFN12_uc002hjj.4_Silent_p.T114T|SLFN12_uc010cts.3_Silent_p.T114T	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	114							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGACCAGAGGTGTTCAAGC	0.393000														41			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481580	179481580	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179481580C>T	uc021vsy.1	-	204	40557	c.40332G>A	c.(40330-40332)aaG>aaA	p.K13444K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K7139K|TTN_uc021vta.1_Silent_p.K7072K|TTN_uc021vtb.1_Silent_p.K6947K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14371	Ig-like 90.						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)			CAGACAAGGTCTTCATTTTCA	0.438000														63			14		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307677	10307677	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10307677C>T	uc002gmm.2	-	21	2753	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	886					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						GGTCATTTTTCTCTTTTAAGA	0.398000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					29			11		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507431	17507431	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:17507431C>T	uc003ncb.3	+	4	575	c.332C>T	c.(331-333)tCg>tTg	p.S111L	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S85L|CAP2_uc011djb.2_Missense_Mutation_p.S111L|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	111					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AAACCCATATCGGAAAAGATT	0.478000														63			7		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43850481	43850481	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43850481C>T	uc010ggz.3	+	1	265	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	SEMG2_uc002xnk.3_Missense_Mutation_p.H70Y|SEMG2_uc002xnl.3_Missense_Mutation_p.H70Y	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	70	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACACACATATCATGTAGACAT	0.388000														82			13		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333050	42333050	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42333050G>A	uc002igf.4	-	13	1940	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	597	Involved in anion transport.|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTGCCAGGGAAATAGGAGC	0.587000														50			7		0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58639467	58639467	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:58639467G>A	uc002qrn.3	-	3	1641	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.S468S	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S468S(2)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGGTCAGACAGGAGCTGTCCC	0.498000														72			7		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354189	10354189	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10354189C>T	uc002gmn.3	-	28	4000	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1297					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						GCATCTTTTTCATCTAGCTGT	0.368000														56			12		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517788	158517788	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158517788G>A	uc010pil.2	-	0	108	c.108C>T	c.(106-108)ttC>ttT	p.F36F		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGGTTGCCAGGAAAATGGAGA	0.448000														47			5		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	T	T	rs61730792	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10419889C>T	uc002gmo.3	-	2	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	24	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R24Q(2)|p.E23D(1)|p.R24*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCTTCAATTCGCTCCCTTTC	0.507000														86			12		0	0	1	0	0
PHOSPHO1	162466	broad.mit.edu	37	17	47304121	47304121	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:47304121C>T	uc002ios.2	-	2	300	c.-118_splice	c.e2-1		PHOSPHO1_uc010wlv.1_Splice_Site|PHOSPHO1_uc021tzr.1_5'Flank	NM_001143804	NP_001137276	Q8TCT1	PHOP1_HUMAN	Homo sapiens phosphatase, orphan 1 (PHOSPHO1), transcript variant 1, mRNA.						regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	TCACACGTTCCTGACAACCAC	0.562000														30			4		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404087	197404087	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197404087G>A	uc001gtz.3	+	8	3303	c.3094G>A	c.(3094-3096)Ggc>Agc	p.G1032S	CRB1_uc010poz.2_Missense_Mutation_p.G1008S|CRB1_uc009wza.3_Missense_Mutation_p.G920S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G513S|CRB1_uc001gub.1_Missense_Mutation_p.G681S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1032	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	p.G1032D(1)		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						AGTGAATGATGGCACATGGCA	0.438000														74			7		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585211	82585211	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82585211C>T	uc003uhx.2	-	4	5347	c.5058G>A	c.(5056-5058)caG>caA	p.Q1686Q	PCLO_uc003uhv.2_Silent_p.Q1686Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1617					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTTTTTTTCTGTGATGACT	0.423000														31			5		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76374858	76374858	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:76374858G>A	uc021rkq.1	+	6	836	c.501G>A	c.(499-501)agG>agA	p.R167R	LMO7_uc010thv.2_Silent_p.R219R|LMO7_uc001vjt.1_Silent_p.R167R|LMO7_uc001vjv.3_5'UTR|LMO7_uc010thw.2_Silent_p.R128R|LMO7_uc001vju.1_Non-coding_Transcript	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	219	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAAGTGGCAGGGACAGTGGCT	0.403000														98			10		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161178	161161178	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:161161178C>T	uc001fyt.4	-	8	2692	c.2264G>A	c.(2263-2265)gGg>gAg	p.G755E		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	755	Spacer.				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)			GCTGACTGCCCCAGGCAGTAC	0.607000														55			5		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758778	54758778	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54758778C>T	uc010yer.1	-	5	1159	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.G359R|LILRB5_uc002qez.3_Missense_Mutation_p.G259R|LILRB5_uc002qex.3_Missense_Mutation_p.G359R|LILRB5_uc002qfa.1_Missense_Mutation_p.G249R|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	359	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTGCCCCCTCCTTGGTC	0.562000														43			3		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189910551	189910551	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189910551C>T	uc002uqk.3	-	45	3559	c.3284G>A	c.(3283-3285)gGa>gAa	p.G1095E	COL5A2_uc010frx.3_Missense_Mutation_p.G671E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1095					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)			TCCTGCATCTCCTGGAGCACC	0.537000														43			5		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312729	48312729	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:48312729G>A	uc003toq.2	+	16	3490	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	ABCA13_uc010kyr.2_Missense_Mutation_p.E659K|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1156					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						AATGTGGACTGAAATCTGGGA	0.363000														46			6		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124180963	124180963	+	Splice_Site	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:124180963T>C	uc001ufp.3	+	12	1441	c.1313_splice	c.e12-1	p.G438_splice	TCTN2_uc009zya.3_Splice_Site_p.G437_splice	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	438					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TTTGTCTAGGTTACCAACTTG	0.423000														54			3		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658822	73658822	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:73658822G>A	uc010dgl.3	-	3	717	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	RECQL5_uc010dgk.3_Missense_Mutation_p.R143C|RECQL5_uc002joz.4_Missense_Mutation_p.R170C|RECQL5_uc002jpa.4_Missense_Mutation_p.R170C|RECQL5_uc002jpb.2_Missense_Mutation_p.R170C	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	170	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TAGTCAGGACGAAAGTCATGC	0.612000								Other identified genes with known or suspected DNA repair function						163			29		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850224	78850224	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:78850224T>C	uc001jxn.3	-	9	1445	c.1268A>G	c.(1267-1269)aAc>aGc	p.N423S	KCNMA1_uc021ptu.1_Missense_Mutation_p.N369S|KCNMA1_uc001jxj.2_Missense_Mutation_p.N423S|KCNMA1_uc001jxk.1_Missense_Mutation_p.N38S|KCNMA1_uc009xrt.1_Missense_Mutation_p.N243S|KCNMA1_uc001jxl.1_Missense_Mutation_p.N77S|KCNMA1_uc001jxo.3_Missense_Mutation_p.N423S|KCNMA1_uc001jxm.3_Missense_Mutation_p.N423S|KCNMA1_uc001jxq.3_Missense_Mutation_p.N423S	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	423	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTTCAGGAAGTTGGAAACACT	0.532000														80			16		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7065069	7065069	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:7065069G>A	uc001mfb.1	+	3	2135	c.1812G>A	c.(1810-1812)aaG>aaA	p.K604K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	604					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTTTCCCAAAGGTTGCCATTA	0.423000														75			11		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150793950	150793950	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150793950G>A	uc004fev.4	+	7	909	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	193						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAGTGATGAAGCTGTACT	0.318000														138			35		0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40319107	40319107	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:40319107G>A	uc002omj.3	-	5	917	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L	DYRK1B_uc002omi.3_Silent_p.L213L|DYRK1B_uc002omk.3_Silent_p.L213L	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	213	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TTCCGGGTCAGGTTCAGCGAG	0.587000														28			3		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497543	157497543	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157497543C>T	uc009wsm.3	-	8	1982	c.1824G>A	c.(1822-1824)ggG>ggA	p.G608G	FCRL5_uc001fqu.3_Silent_p.G608G|FCRL5_uc010phv.1_Silent_p.G608G|FCRL5_uc010phw.1_Silent_p.G523G	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	608	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGAGCTGCTCCCCAGGGTGA	0.567000														101			5		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72938055	72938055	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72938055G>A	uc010wrr.2	+	2	550	c.550G>A	c.(550-552)Gat>Aat	p.D184N	OTOP3_uc010wrq.2_Missense_Mutation_p.D166N	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	184						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGTGGGCTACGATGTGAGCCA	0.602000														28			4		0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567050	84567050	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84567050C>T	uc003pke.3	+	3	480	c.329C>T	c.(328-330)tCa>tTa	p.S110L	CYB5R4_uc003pkf.3_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	110	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCCACAATTTCATTTTATGAA	0.323000														48			6		0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031896	132031896	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132031896C>T	uc011ece.2	-	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA.	88						integral to membrane		p.E88Q(3)		endometrium(1)|lung(1)	2						TTACATTTTTCTTCAATTAGT	0.393000														57			11		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256591	84256591	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84256591G>A	uc010voc.2	-	2	913	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	264						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGGTCTCCACGATGAAAATAT	0.567000														23			8		0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36926734	36926734	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36926734A>C	uc002hqs.3	-	8	1606	c.1125T>G	c.(1123-1125)gaT>gaG	p.D375E		NM_003559	NP_003550	P78356	PI42B_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, beta (PIP4K2B), mRNA.	375	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TCTTCTTTGTATCGTATGGCG	0.537000														138			6		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43924792	43924792	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:43924792C>T	uc003bdy.2	-	31	4761	c.4447G>A	c.(4447-4449)Gat>Aat	p.D1483N	EFCAB6_uc003bdz.2_Missense_Mutation_p.D1331N|EFCAB6_uc010gzi.2_Missense_Mutation_p.D1331N	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1483	EF-hand 17.|Interaction with AR.|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)				AGCGTCTTATCGTAATACTCC	0.522000														78			11		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754826	49754826	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49754826G>A	uc003ozu.3	-	0	228	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	25	Substrate binding (By similarity).				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGGGAACATTGAAGTCTACTC	0.428000														90			12		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429879	135429879	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135429879G>A	uc004ezu.1	+	5	4305	c.4014G>A	c.(4012-4014)caG>caA	p.Q1338Q	GPR112_uc010nsb.1_Silent_p.Q1133Q|GPR112_uc010nsc.1_Silent_p.Q1105Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1338					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)					GAAGCACACAGATTACACCAA	0.458000														81			18		0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31625493	31625493	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31625493G>A	uc003nvl.3	+	4	607	c.534G>A	c.(532-534)agG>agA	p.R178R	APOM_uc003nvk.3_Silent_p.R106R	NM_019101	NP_061974	O95445	APOM_HUMAN	Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA.	178				LTPRNQEACELSNN -> VDS (in Ref. 2; CAB51604).	cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TGACTCCTAGGAATCAAGGTA	0.488000														103			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433873	179433873	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179433873G>A	uc021vsy.1	-	274	69507	c.69282C>T	c.(69280-69282)atC>atT	p.I23094I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I16789I|TTN_uc021vta.1_Silent_p.I16722I|TTN_uc021vtb.1_Silent_p.I16597I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24021	Ig-like 118.						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)			GGAGCTGATCGATTTTCCAAG	0.398000														153			17		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852968	40852968	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:40852968C>T	uc003jmg.3	+	2	1609	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	512					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGTGTTTTCCTGATAGCGA	0.418000														68			13		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108697016	108697016	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:108697016C>T	uc022cch.1	-	2	1190	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.E369K	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	369					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGTCCATTTTCTTTCATAGCA	0.383000														16			4		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183162	60183162	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:60183162C>T	uc001npj.3	+	4	1286	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	MS4A14_uc001npi.3_Missense_Mutation_p.P129S|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.P224S|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	241						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTTCCATCTCCCAAATTTTC	0.388000														78			16		0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62370243	62370244	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62370243_62370244CC>AT	uc002ygp.4	+	5	1827_1828	c.878_879CC>AT	c.(877-879)tcc>tAT	p.S293Y	ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_3'UTR|SLC2A4RG_uc002ygq.3_5'Flank|SLC2A4RG_uc002ygr.3_5'Flank|SLC2A4RG_uc011abj.2_5'Flank|SLC2A4RG_uc002ygs.3_5'Flank	NM_017806	NP_060276	Q8N5A5	ZGPAT_HUMAN	Homo sapiens Lck interacting transmembrane adaptor 1 (LIME1), mRNA.	413					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTCCCTGCCTCCCTGCCCTGAA	0.723000														15			5		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174938461	174938461	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:174938461G>A	uc003mda.2	+	4	580	c.442G>A	c.(442-444)Gga>Aga	p.G148R	SFXN1_uc003mdb.1_Missense_Mutation_p.G87R	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	148					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGTGAGTTGGGAACAGCTTA	0.398000														119			10		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144515	33144515	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33144515C>T	uc003ocx.1	-	25	2326	c.2098G>A	c.(2098-2100)Gga>Aga	p.G700R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G614R|COL11A2_uc003ocz.1_Missense_Mutation_p.G593R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	700	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTTTGGTTCCAGGGGGACCT	0.547000														14			4		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884450	23884450	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:23884450C>T	uc001wjx.3	-	36	5419	c.5313G>A	c.(5311-5313)aaG>aaA	p.K1771K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1771					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTCCTGCTCCTTCTTCAGCT	0.607000														121			9		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887225	3887225	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:3887225C>T	uc003bpt.4	+	1	1661	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L300L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	300						integral to membrane		p.L300L(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGGGCGAGCTCGTTTCTGTCG	0.453000														45			12		0	0	1	0	0
EN1	2019	broad.mit.edu	37	2	119600567	119600567	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:119600567C>T	uc002tlm.3	-	1	2142	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	376					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TTGTACAGTCCCTGGGCCATG	0.652000														56			10		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995073	140995073	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140995073C>T	uc004fbt.3	+	3	2207	c.1883C>T	c.(1882-1884)cCt>cTt	p.P628L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P287L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	628							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)					CTCCAGAGCCCTGTGAGCATC	0.567000										HNSCC(15;0.026)				291			38		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032419	9032419	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:9032419C>T	uc003brf.1	-	20	3339	c.2663G>A	c.(2662-2664)cGg>cAg	p.R888Q	SRGAP3_uc003brg.1_Missense_Mutation_p.R864Q	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	888					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)		GGCAGCAGCCCGGGGTGGTGT	0.701000			T	RAF1	pilocytic astrocytoma									18			7		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176715	8176715	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:8176715G>A	uc003wsh.4	-	4	3170	c.3170C>T	c.(3169-3171)cCg>cTg	p.P1057L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1057	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CATGCTGGACGGCACCGAGGC	0.662000														79			18		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183778092	183778092	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:183778092C>T	uc003fmk.3	+	8	1330	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	432						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCTACCTGCTCTTCATGGCCT	0.562000														220			17		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117239222	117239222	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117239222C>T	uc003pxm.3	+	9	1058	c.995C>T	c.(994-996)cCt>cTt	p.P332L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	332					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						GTACTCATTCCTGCAACAATG	0.289000														63			7		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31856801	31856801	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31856801G>A	uc003nxz.1	-	9	1171	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	EHMT2_uc003nxy.1_Silent_p.V178V|EHMT2_uc011don.1_Intron|EHMT2_uc003nya.1_Intron	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	387					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ACCCCAGAGGGACCTCCATGT	0.637000														18			5		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378313	31378313	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31378313C>A	uc003tch.3	-	1	923	c.570G>T	c.(568-570)atG>atT	p.M190I	NEUROD6_uc022abi.1_Missense_Mutation_p.M190I	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	190					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CACCCTGACCCATCAGGAAAC	0.562000														73			7		5.18039e-06	5.22268e-06	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142565411	142565411	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142565411C>T	uc011kst.2	+	11	2583	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F	EPHB6_uc011ksu.2_Missense_Mutation_p.S599F|EPHB6_uc003wbs.3_Missense_Mutation_p.S307F|EPHB6_uc003wbt.3_Missense_Mutation_p.S73F|EPHB6_uc003wbu.3_Missense_Mutation_p.S307F|EPHB6_uc003wbv.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	599						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGATCGGCTCCATCCTGGGG	0.652000														21			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967373	106967373	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:106967373G>A	uc021ser.1	-	263		c.10127C>T								Parts of antibodies, mostly variable regions.																		GGACACAGTAGAGAATGACAG	0.567000														56			10		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22586275	22586275	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:22586275G>A	uc002nqt.2	-	1	192	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CACTCCTCCAGAGAGAATTCT	0.398000														95			16		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043641	184043641	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:184043641C>T	uc003fnp.3	+	20	3395	c.3124C>T	c.(3124-3126)Cgt>Tgt	p.R1042C	EIF4G1_uc010hxx.3_Missense_Mutation_p.R1049C|EIF4G1_uc003fnt.3_Missense_Mutation_p.R753C|EIF4G1_uc010hxy.3_Missense_Mutation_p.R1049C|EIF4G1_uc003fnq.3_Missense_Mutation_p.R955C|EIF4G1_uc003fnr.3_Missense_Mutation_p.R878C|EIF4G1_uc003fns.3_Missense_Mutation_p.R1002C|EIF4G1_uc003fnv.4_Missense_Mutation_p.R1043C|EIF4G1_uc003fnw.3_Missense_Mutation_p.R1049C|EIF4G1_uc003fnx.3_Missense_Mutation_p.R847C	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1042	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)			TGTGTCAGGCCGTGGACTTCC	0.547000														190			41		0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39739620	39739620	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39739620C>T	uc002hxf.2	-	5	1202	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	381	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGCTGCTCCTCCACGCTGCCA	0.612000														59			6		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17264924	17264924	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:17264924C>T	uc002zlv.3	-	3	1063	c.965G>A	c.(964-966)tGg>tAg	p.W322*	XKR3_uc011agf.2_Nonsense_Mutation_p.W322*	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	322						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)				CACTGCTGACCAGCAGGAGAA	0.418000														59			15		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004410	44004410	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:44004410C>T	uc003bdy.2	-	21	2947	c.2633G>A	c.(2632-2634)gGt>gAt	p.G878D	EFCAB6_uc003bdz.2_Missense_Mutation_p.G726D|EFCAB6_uc010gzi.2_Missense_Mutation_p.G726D|EFCAB6_uc010gzj.1_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	878	EF-hand 9.				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)				AATATCAAAACCGTACAGTGC	0.448000														41			4		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440244	104440244	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:104440244A>T	uc004elz.1	+	2	926	c.170A>T	c.(169-171)tAc>tTc	p.Y57F		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	57	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCCTTTTCTACAGTTATATT	0.458000														45			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087601	9087601	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9087601G>A	uc002mkp.3	-	0	4418	c.4214C>T	c.(4213-4215)tCa>tTa	p.S1405L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1405	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						AAATCCAGATGATTTTTCTGC	0.458000														92			15		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291766	141291766	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:141291766G>A	uc022cfj.1	-	0	8	c.8C>T	c.(7-9)cCc>cTc	p.P3L	MAGEC2_uc004fbu.2_Missense_Mutation_p.P3L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	3						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGAACGGGAGGCATGAC	0.522000										HNSCC(46;0.14)				65			20		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466730	56466730	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56466730C>T	uc002qmh.3	+	2	1377	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S	NLRP8_uc010etg.3_Missense_Mutation_p.P436S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	436	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAGCTTGTTTCCCACCAGAGC	0.488000														76			12		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156788589	156788589	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156788589C>T	uc021ygm.1	+	25	3157	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	CYFIP2_uc011ddn.2_Missense_Mutation_p.L982F|CYFIP2_uc011ddo.2_Missense_Mutation_p.L812F|CYFIP2_uc021ygn.1_Missense_Mutation_p.L1007F|CYFIP2_uc021ygo.1_Missense_Mutation_p.L1007F|CYFIP2_uc003lwt.3_Missense_Mutation_p.L911F|CYFIP2_uc011ddp.2_Missense_Mutation_p.L742F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1033					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)			CTTCTGCCTCCTCATAGAGCA	0.552000														39			6		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405491	135405491	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135405491G>A	uc004ezu.1	+	4	916	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	209					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)					AGTTAGTTGGGAAGAAGACGT	0.438000														60			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209659	140209659	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140209659G>A	uc003lho.2	+	0	2010	c.1983G>A	c.(1981-1983)gcG>gcA	p.A661A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.A661A	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	672	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGACAGCGACGGCCACGG	0.706000														89			7		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64529494	64529494	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:64529494A>G	uc001xgl.3	+	49	10323	c.10093A>G	c.(10093-10095)Aga>Gga	p.R3365G	SYNE2_uc001xgm.3_Missense_Mutation_p.R3365G|SYNE2_uc021ruh.1_Missense_Mutation_p.R3398G|SYNE2_uc010apw.1_Missense_Mutation_p.R71G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3365					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)		CAAATGCTATAGAAAAATGGA	0.333000														27			3		0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21050577	21050577	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:21050577G>A	uc009vpy.1	-	7	1301	c.799_splice	c.e7+1	p.F267_splice	SH2D5_uc001bdt.1_Splice_Site_p.F183_splice|SH2D5_uc001bdu.1_Splice_Site	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	183	SH2.									lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAACTCACAGGCCTCCCGAG	0.662000														60			5		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471587	61471587	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61471587G>A	uc002ljl.3	+	7	957	c.861G>A	c.(859-861)atG>atA	p.M287I	SERPINB7_uc002ljm.3_Missense_Mutation_p.M287I|SERPINB7_uc010xet.2_Missense_Mutation_p.M270I|SERPINB7_uc010dqg.3_Missense_Mutation_p.M287I	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	287					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATTATGAAATGAAACAATATT	0.398000														41			11		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996298	140996298	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140996298C>T	uc004fbt.3	+	3	3432	c.3108C>T	c.(3106-3108)gcC>gcT	p.A1036A	MAGEC1_uc010nsl.2_Silent_p.A103A|MAGEC1_uc022cfi.1_Silent_p.A695A	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1036	MAGE.						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)					AGCACTTTGCCTTTGGGGAGC	0.537000										HNSCC(15;0.026)				80			10		0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	828343	828343	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:828343C>T	uc002lpz.1	+	1	188	c.172C>T	c.(172-174)Cat>Tat	p.H58Y		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	58	Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	p.H58Y(2)		NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCTGATCCATGCCCGCTT	0.657000														94			13		0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45763501	45763501	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:45763501C>T	uc003cos.2	+	8	893	c.689C>T	c.(688-690)tCg>tTg	p.S230L	SACM1L_uc011bag.1_Missense_Mutation_p.S127L|SACM1L_uc011bah.1_Missense_Mutation_p.S164L	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	230	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GGAATTGATTCGGAAGGCCAT	0.353000														22			4		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481154	140481154	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140481154G>A	uc003lio.3	+	0	921	c.921G>A	c.(919-921)ttG>ttA	p.L307L	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	307	Cadherin 3.				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)			TCAAATATTTGAATTTTGAAG	0.393000														31			6		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187501808	187501808	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:187501808C>T	uc002upq.3	+	7	1050	c.774C>T	c.(772-774)gtC>gtT	p.V258V	ITGAV_uc010frs.3_Silent_p.V222V|ITGAV_uc010zfv.2_Silent_p.V212V	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	258					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTGTGGCTGTCGGAGATTTCA	0.368000														97			13		0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906682	12906682	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:12906682C>T	uc004cvc.3	+	2	3194	c.3055C>T	c.(3055-3057)Ccg>Tcg	p.P1019S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	1019	TIR.				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity	p.P1019L(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GCCAACAAACCCGCAAGCTCA	0.498000														104			46		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119099807	119099807	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119099807C>T	uc003ecj.4	+	3	937	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	135	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AAAATGTTATCCAGGAGCTTC	0.507000														53			7		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711610	155711611	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:155711610_155711611GG>AA	uc002tyv.1	+	2	1486_1487	c.1291_1292GG>AA	c.(1291-1293)gga>AAa	p.G431K	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	431					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L430F(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTACAGCTTGGGAGACTTGCCC	0.406000														84			14		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651024	96651024	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:96651024G>A	uc003pop.4	+	3	334	c.-7_splice	c.e3-1		FUT9_uc021zcw.1_5'Flank	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.						L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TATTTCGTAGGAAAAATTATG	0.333000														116			10		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558546	140558546	+	Missense_Mutation	SNP	G	A	A	rs148140727		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140558546G>A	uc011dai.2	+	0	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E311K(4)		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)			ACTTGATTTCGAAAAATTTCA	0.383000														113			6		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91172590	91172590	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:91172590C>T	uc002bpp.3	+	10	1198	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	CRTC3_uc002bpo.3_Silent_p.L364L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	364					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S363L(2)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ACCCTTCGCTCCGTCTGTTTT	0.557000			T	MAML2	salivary gland mucoepidermoid									298			23		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197627492	197627492	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197627492G>A	uc021pgu.1	-	5	642	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S	DENND1B_uc010ppf.2_Non-coding_Transcript|DENND1B_uc001guf.3_Missense_Mutation_p.P102S|DENND1B_uc001gue.3_Missense_Mutation_p.P92S|DENND1B_uc001gug.4_5'UTR	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	102	DENN.					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						TCAAACCAGGGAAGGTAACTG	0.269000														65			12		0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30409701	30409701	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:30409701C>T	uc002ymy.3	+	5	755	c.553C>T	c.(553-555)Cct>Tct	p.P185S	USP16_uc002ymx.3_Missense_Mutation_p.P184S|USP16_uc002ymw.3_Missense_Mutation_p.P185S|USP16_uc011acm.2_Missense_Mutation_p.P170S|USP16_uc011acn.2_Intron|USP16_uc011aco.2_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	185					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.P185H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TAAAGAGAATCCTCCCATGAA	0.328000														43			5		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88583119	88583119	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:88583119G>A	uc001pcq.3	-	1	1066	c.866C>T	c.(865-867)gCc>gTc	p.A289V	GRM5_uc009yvm.3_Missense_Mutation_p.A289V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	289					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCGCCTCATGGCCATCAGCAG	0.517000														51			8		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264085	1264085	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1264085G>A	uc001lta.3	+	30	6034	c.5975G>A	c.(5974-5976)tGg>tAg	p.W1992*		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1992	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCACCACCTGGACCCGCCTA	0.637000														275			14		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94145835	94145835	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:94145835G>A	uc011cdt.2	+	6	1292	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	GRID2_uc011cdu.2_Missense_Mutation_p.R250Q|GRID2_uc010ikz.1_Missense_Mutation_p.R26Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	345					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D344G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTGGAGGACCGAAAGTGGCAC	0.443000														34			7		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30974051	30974051	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:30974051G>A	uc009yjk.1	-	8	1069	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	DCDC5_uc021qfk.1_5'UTR|DCDC5_uc009yjl.1_Intron|DCDC5_uc001msu.2_Missense_Mutation_p.P505S	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TTCCATAGAGGATTTTCAACT	0.403000														20			4		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275625	5275625	+	Missense_Mutation	SNP	G	A	A	rs151258456		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5275625G>A	uc001mai.1	-	1	649	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.S71F	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	71					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	p.S71F(1)		large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTCCCAAGGAAGTCAGCAC	0.532000														147			16		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60349301	60349301	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:60349301C>T	uc002izq.2	-	4	359	c.247G>A	c.(247-249)Gga>Aga	p.G83R	TBC1D3P2_uc010woz.2_Non-coding_Transcript|DQ571391_uc010wpa.1_5'Flank|DQ580080_uc021ubh.1_5'Flank					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TCCCATTCTCCCAGCATTTTC	0.552000														178			22		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103782	53103782	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:53103782G>A	uc003tpz.3	+	0	434	c.418G>A	c.(418-420)Ggg>Agg	p.G140R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	140								p.I139M(1)|p.I139I(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGACCATCGGGATCGCGCC	0.716000														49			7		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68478450	68478450	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68478450C>T	uc001ooc.3	-	8	1366	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	409					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TAGTGTCTTTCGTTCTGGGCT	0.388000														29			5		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103431072	103431072	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:103431072G>A	uc001dum.3	-	37	3241	c.2923C>T	c.(2923-2925)Cct>Tct	p.P975S	COL11A1_uc001duk.3_Missense_Mutation_p.P159S|COL11A1_uc001dul.3_Missense_Mutation_p.P963S|COL11A1_uc001dun.3_Missense_Mutation_p.P924S|COL11A1_uc009weh.3_Missense_Mutation_p.P847S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	963	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGCCCAGGAGGGCCGGTC	0.393000														125			17		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150297	2150297	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2150297G>A	uc002cos.1	-	27	9791	c.9582C>T	c.(9580-9582)gcC>gcT	p.A3194A	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.A3194A|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3194	PLAT.				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						GCAGGAACCAGGCAGGGCTGA	0.677000														130			8		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783239	1783239	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:1783239C>T	uc002ltw.3	-	28	3925	c.3691G>A	c.(3691-3693)Gag>Aag	p.E1231K	ATP8B3_uc002ltv.3_Missense_Mutation_p.E1194K|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1231					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GTGAAAATCTCCTCGCTGGGG	0.587000														15			3		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765192	141765192	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141765192C>T	uc003vwy.3	+	37	4596	c.4542C>T	c.(4540-4542)ccC>ccT	p.P1514P		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1514	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)	CCACATTTCCCTCTTCTGGCC	0.617000														26			3		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27456009	27456009	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:27456009C>T	uc003xfy.2	-	7	1488	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	CLU_uc003xfw.2_Silent_p.E436E|CLU_uc003xfx.2_Silent_p.E436E|CLU_uc003xfz.2_Silent_p.E436E	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	436					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)		GCAGCGCTTTCTCCGCCACGG	0.552000														63			9		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37184923	37184923	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:37184923A>G	uc011cpa.1	-	24	4679	c.4448T>C	c.(4447-4449)gTt>gCt	p.V1483A	C5orf42_uc011coy.1_5'Flank|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.V558A|C5orf42_uc011cpb.1_Missense_Mutation_p.V364A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1483										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTTTCTTCAACCGACAAAGC	0.393000														48			14		0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528252	77528252	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:77528252C>T	uc022bzh.1	-	0	992	c.992G>A	c.(991-993)gGa>gAa	p.G331E	CYSLTR1_uc004edb.3_Missense_Mutation_p.G331E|CYSLTR1_uc010nma.3_Missense_Mutation_p.G331E|CYSLTR1_uc010nmb.3_Missense_Mutation_p.G331E	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	331					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	p.G331E(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TATTTCTTCTCCTTTTTCTGG	0.348000														21			11		0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334690	142334690	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142334690C>T	uc003vzp.2	+	1	167	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Missense_Mutation_p.R39C|TCRBV2S1_uc022anq.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GATCGAGTGCCGTTCCCTGGA	0.532000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			9		0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21768320	21768320	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:21768320C>T	uc003wzx.1	-	3	575	c.482G>A	c.(481-483)aGt>aAt	p.S161N	DOK2_uc003wzy.1_Missense_Mutation_p.S161N|DOK2_uc003wzz.1_Missense_Mutation_p.S7N|DOK2_uc010lth.1_Missense_Mutation_p.S7N	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	161	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCACCTCTCACTGGCTTCTGT	0.622000														33			3		0	0	1	0	0
PTRH2	51651	broad.mit.edu	37	17	57775088	57775088	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:57775088G>A	uc002ixt.3	-	1	377	c.252C>T	c.(250-252)gcC>gcT	p.A84A	PTRH2_uc002ixs.3_Non-coding_Transcript	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA.	84					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGAGCACTGGGCAGCCACTT	0.468000														123			6		0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550570	167550570	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:167550570G>A	uc003qvl.3	+	12	3328	c.852G>A	c.(850-852)atG>atA	p.M284I	CCR6_uc010kkm.3_Missense_Mutation_p.M284I|CCR6_uc003qvn.4_Missense_Mutation_p.M284I|CCR6_uc003qvm.4_Missense_Mutation_p.M284I	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	284					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGGGTAAAATGAACCGATCCT	0.483000														87			14		0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126015	8126016	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:8126015_8126016CT>TG	uc003srk.3	+	7	2050_2051	c.1491_1492CT>TG	c.(1489-1494)ctctca>ctTGca	p.S498A		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	498										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTGAGCAGCTCTCATCCCGGGT	0.564000														278			21		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34513169	34513170	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:34513169_34513170GA>AT	uc003zum.3	+	15	1742_1743	c.1549_1550GA>AT	c.(1549-1551)gag>ATg	p.E517M		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	517					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGTGGGCACAGAGGAGGGAAAA	0.530000									Kartagener syndrome					88			9		0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142741801	142741801	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:142741801C>T	uc003evh.1	+	11	1224	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Silent_p.P375P|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Silent_p.P374P|U2SURP_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	375	Pro-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATACGCTTCCCCCACCTCCAT	0.438000														20			4		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44120386	44120386	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:44120386C>T	uc003owr.3	+	19	1957	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	TMEM63B_uc003ows.3_Silent_p.F534F|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	631						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGTGCGTCTTCACGGTGGTCA	0.662000											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			11		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914572	54914572	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54914572C>T	uc001sgc.4	+	16	1799	c.1720C>T	c.(1720-1722)Cac>Tac	p.H574Y	NCKAP1L_uc010sox.2_Missense_Mutation_p.H116Y|NCKAP1L_uc010soy.2_Missense_Mutation_p.H524Y	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	574					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GATTTGTGCTCACTTTGTCCA	0.468000														201			40		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356609	10356609	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10356609C>T	uc002gmn.3	-	23	3082	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	991					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						GCAATGGTTTCATCCAGACCT	0.463000														111			38		0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890552	63890552	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:63890552G>A	uc003jtj.3	+	3	479	c.479G>A	c.(478-480)gGg>gAg	p.G160E	RGS7BP_uc011cqu.2_Missense_Mutation_p.G27E	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	160					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)		GAACCTGGCGGGGGAACCAAG	0.478000														71			8		0	0	1	0	0
HOXC12	3228	broad.mit.edu	37	12	54350166	54350166	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54350166C>T	uc010soq.2	+	1	665	c.665C>T	c.(664-666)tCg>tTg	p.S222L		NM_173860	NP_776272	P31275	HXC12_HUMAN	Homo sapiens homeobox C12 (HOXC12), mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						AAGCCCTATTCGAAGTTGCAA	0.582000														125			18		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688869	55688869	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55688869C>T	uc010sph.2	-	0	148	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	50					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						AGCCGGGGATCCAGCAGGGTG	0.408000														59			6		0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48325462	48325462	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:48325462G>A	uc010nid.3	-	4	310	c.132C>T	c.(130-132)ttC>ttT	p.F44F	SLC38A5_uc004djk.4_5'UTR	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	44					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TCTTCCCCTCGAACTGCACGC	0.592000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			3		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729467	18729467	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:18729467C>T	uc003wza.3	-	2	1010	c.907G>A	c.(907-909)Gga>Aga	p.G303R		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	303					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATTTCCACTCCTTGAAATTCC	0.522000														105			13		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136969	40136969	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:40136969G>A	uc021qgf.1	-	0	874	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	LRRC4C_uc001mxc.1_Missense_Mutation_p.H288Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.H288Y|LRRC4C_uc001mxa.1_Missense_Mutation_p.H292Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.H288Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	292					regulation of axonogenesis	integral to membrane	protein binding	p.H291H(1)		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)				CGCTCTAGATGATGCAAGGGA	0.468000														141			11		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604460	90604460	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:90604460C>T	uc011eaa.2	+	0	273	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	91					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTCTTTGGTCTATATGGGCC	0.438000														33			8		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692126	116692126	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:116692126C>T	uc001pps.1	-	2	752	c.648G>A	c.(646-648)gtG>gtA	p.V216V		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCAGCTCCTCCACGGTCTGGT	0.592000														156			14		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359932	40359932	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:40359932C>T	uc003oph.1	-	2	2585	c.2120G>A	c.(2119-2121)aGg>aAg	p.R707K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	707						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGCAGGCTCCTGGCCCGGGC	0.736000														12			3		0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242684291	242684291	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242684291C>T	uc002wce.1	+	6	1026	c.853_splice	c.e6+1	p.G285_splice	D2HGDH_uc010zpc.1_Splice_Site|D2HGDH_uc010fzq.1_Splice_Site_p.G151_splice|D2HGDH_uc002wcg.1_Splice_Site	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	285					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGCTTTCCTCGGTGGGCTTC	0.602000														64			16		0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111066649	111066649	+	Missense_Mutation	SNP	G	A	A	rs143712463		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:111066649G>A	uc011cvr.2	-	3	500	c.308C>T	c.(307-309)tCc>tTc	p.S103F	NREP_uc011cvs.2_Missense_Mutation_p.S93F|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Intron|NREP_uc003kpl.3_Missense_Mutation_p.S59F|NREP_uc003kpm.3_Missense_Mutation_p.S59F|NREP_uc011cvk.2_Missense_Mutation_p.S59F|NREP_uc011cvl.2_Missense_Mutation_p.S59F|NREP_uc011cvm.2_Missense_Mutation_p.S59F|NREP_uc011cvn.2_Missense_Mutation_p.S59F|NREP_uc011cvo.2_Missense_Mutation_p.S59F|NREP_uc011cvp.2_Missense_Mutation_p.S59F|NREP_uc011cvq.2_Missense_Mutation_p.S59F	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	59						cytoplasm		p.S59F(1)									GATTCTTGGGGAGCGGAGTTC	0.463000														79			5		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193160188	193160188	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193160188C>T	uc003ftd.3	-	18	2418	c.2310G>A	c.(2308-2310)ggG>ggA	p.G770G	ATP13A4_uc003fte.1_Silent_p.G770G|ATP13A4_uc011bsr.1_Silent_p.G241G|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	770					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTACCTGATTCCCATACATAA	0.438000														37			8		0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38417672	38417672	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:38417672G>A	uc003cic.2	+	12	1178	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	XYLB_uc011ayp.1_Missense_Mutation_p.D220N|XYLB_uc003cid.1_Missense_Mutation_p.D279N	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	357					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCCTGGAGCGATTTCTCTAA	0.567000														131			12		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370434	56370434	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56370434G>A	uc002qmd.4	+	2	2097	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	NLRP4_uc002qmf.3_Missense_Mutation_p.E484K|NLRP4_uc010etf.3_Missense_Mutation_p.E390K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	559							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTCTCTTTGAAATGCAGGA	0.473000														58			18		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833206	43833207	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43833206_43833207CC>TT	uc002zbe.3	+	3	512_513	c.428_429CC>TT	c.(427-429)ccc>cTT	p.P143L	UBASH3A_uc002zbf.3_Missense_Mutation_p.P143L|UBASH3A_uc010gpe.3_Missense_Mutation_p.P143L|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	143						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGCTCCTTCCCCACGGCCGTGC	0.609000														100			26		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973661	10973661	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:10973661G>A	uc003jfa.1	-	21	3727	c.3582C>T	c.(3580-3582)acC>acT	p.T1194T	CTNND2_uc010itt.2_Silent_p.T1103T|CTNND2_uc011cmy.1_Silent_p.T857T|CTNND2_uc011cmz.1_Silent_p.T761T|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.T786T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1194					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CGTAGTTGCCGGTGGACTTGA	0.567000														73			19		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101834	82101834	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:82101834G>A	uc002fgv.3	+	1	497	c.325G>A	c.(325-327)Gta>Ata	p.V109I		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	109					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GGGCTTCACGGTATTTGCCGG	0.547000														39			6		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86123597	86123597	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:86123597C>T	uc002blv.1	+	6	2468	c.2298C>T	c.(2296-2298)gtC>gtT	p.V766V	AKAP13_uc002blt.1_Silent_p.V766V|AKAP13_uc002blu.1_Silent_p.V766V|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	766					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATCCAGTTGTCCCTAAAATGG	0.423000														71			15		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22973975	22973975	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:22973975A>G	uc001bgc.4	+	2	540	c.437A>G	c.(436-438)aAc>aGc	p.N146S	C1QC_uc001bga.4_Missense_Mutation_p.N146S	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	146	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCCTCACCAACCCGCAGGGA	0.562000														56			10		0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206791	116206791	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:116206791C>T	uc001efv.1	+	3	985	c.714C>T	c.(712-714)atC>atT	p.I238I	VANGL1_uc009wgy.1_Silent_p.I236I|VANGL1_uc021ose.1_Silent_p.I238I	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	238					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACCTGGCCATCGTCCTGCTGG	0.597000														74			6		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169081456	169081456	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:169081456C>T	uc003maf.3	+	1	173	c.93C>T	c.(91-93)atC>atT	p.I31I	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	31	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTGCAGATCGGCGATGTGG	0.552000														55			8		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41834751	41834751	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:41834751C>T	uc010lxb.3	-	7	1682	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	KAT6A_uc010lxc.3_Missense_Mutation_p.E380K|KAT6A_uc003xon.4_Missense_Mutation_p.E380K|KAT6A_uc010lxd.3_Missense_Mutation_p.E380K	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	380	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TATCCTTCTTCTGATGATGAT	0.443000														80			7		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23637631	23637631	+	Missense_Mutation	SNP	C	T	T	rs45476495		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:23637631C>T	uc002dlx.1	-	6	2874	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	892	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTACATCTTCGCAAGCAGTT	0.463000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						94			13		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209308124	209308124	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:209308124C>T	uc010zjb.2	+	5	880	c.594C>T	c.(592-594)ttC>ttT	p.F198F	PTH2R_uc002vdb.3_Silent_p.F187F	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	187						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTGTCTTTCATGCTGAGAG	0.383000														49			11		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169362602	169362602	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:169362602C>T	uc021xuh.1	-	8	1290	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	DDX60L_uc003irq.4_Missense_Mutation_p.E394K|DDX60L_uc003irr.1_Missense_Mutation_p.E394K|DDX60L_uc003irs.1_Missense_Mutation_p.E121K	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	394							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CACAGGTCTTCATAATCCCTC	0.353000														56			12		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952597	52952597	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:52952597G>C	uc001vgo.3	-	4	2053	c.1508C>G	c.(1507-1509)cCg>cGg	p.P503R	THSD1_uc001vgp.3_Missense_Mutation_p.P450R|THSD1_uc010tgz.2_Missense_Mutation_p.P124R	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	503						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGGAGGTACCGGCCCGCTCCG	0.657000														99			24		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461493	11461493	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:11461493C>T	uc001qzf.1	-	2	458	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	PRB4_uc001qzt.3_Missense_Mutation_p.E142K	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	205	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGTGGTCTTTCTGGCTTTCCT	0.607000										HNSCC(22;0.051)				316			65		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364547	103364547	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:103364547G>A	uc001dum.3	-	54	4444	c.4126C>T	c.(4126-4128)Cct>Tct	p.P1376S	COL11A1_uc001duk.3_Missense_Mutation_p.P560S|COL11A1_uc001dul.3_Missense_Mutation_p.P1364S|COL11A1_uc001dun.3_Missense_Mutation_p.P1325S|COL11A1_uc009weh.3_Missense_Mutation_p.P1248S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1364	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTCCAGGAGGACCCTATAGA	0.279000														38			4		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84287021	84287021	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:84287021C>T	uc002bjw.3	+	8	1221	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	SH3GL3_uc002bjx.3_Silent_p.I273I|SH3GL3_uc002bju.3_Silent_p.I350I|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	342	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGGAAGTGATCGTGCCTTTAC	0.408000														54			11		0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332679	71332679	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:71332679G>A	uc001jpp.3	-	1	367	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	NEUROG3_uc021pry.1_Missense_Mutation_p.R41C	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	41					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCCCGTGTGCGAGTGGGGCTG	0.721000														30			3		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31637491	31637491	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:31637491C>T	uc002rnv.1	-	1	121	c.42_splice	c.e1+1	p.K14_splice	Mir_584_uc021vfp.1_5'Flank	NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	14	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCCTACTTACCTTTCTGCCAT	0.507000														139			11		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976844	46976844	+	Nonsense_Mutation	SNP	C	T	T	rs138457936	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:46976844C>T	uc001cpx.3	+	2	601	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	DMBX1_uc001cpw.3_Nonsense_Mutation_p.Q191*	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	196					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCCGAGGATCAGCCGGACCG	0.672000														45			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717501	13717501	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13717501A>G	uc003jfd.2	-	72	12670	c.12628T>C	c.(12628-12630)Tac>Cac	p.Y4210H	DNAH5_uc003jfc.2_Missense_Mutation_p.Y378H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4210	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAAATTCGTAGGGGATATTC	0.542000									Kartagener syndrome					33			9		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18692085	18692085	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:18692085C>T	uc001bau.2	+	5	1292	c.909C>T	c.(907-909)gcC>gcT	p.A303A	IGSF21_uc001bav.2_Silent_p.A124A	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	303						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AAGTACGTGCCCTGCTCACCT	0.642000														92			23		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54015068	54015068	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:54015068G>A	uc002acj.2	-	2	233	c.191C>T	c.(190-192)tCg>tTg	p.S64L	WDR72_uc010bfi.1_Missense_Mutation_p.S64L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	64								p.S64L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACATGTTACCGAAGCTGAATG	0.378000														116			18		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	144918732	144918732	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:144918732C>T	uc003ijn.2	-	4	443	c.327G>A	c.(325-327)acG>acA	p.T109T	GYPA_uc010ioo.1_Intron|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Non-coding_Transcript|GYPA_uc011chw.1_Intron|GYPA_uc011chx.1_Non-coding_Transcript|GYPA_uc003ijm.1_Silent_p.T77T|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Intron|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Intron			P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	106					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000														28			10		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753931	49753931	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49753931G>A	uc003ozu.3	-	0	1123	c.970C>T	c.(970-972)Cat>Tat	p.H324Y		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	324					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACTTGAGCATGATTCTTGTTG	0.488000														163			32		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931100	94931100	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94931100C>T	uc001ydf.3	-	3	1209	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	SERPINA9_uc001yde.3_Missense_Mutation_p.D250N|SERPINA9_uc010avc.3_Missense_Mutation_p.D201N|SERPINA9_uc001ydg.3_Missense_Mutation_p.D314N|SERPINA9_uc001ydh.1_Missense_Mutation_p.D350N|SERPINA9_uc001ydi.1_Missense_Mutation_p.D314N	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	332					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCATTTTTGTCAAAGACATTT	0.423000														63			7		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155267725	155267725	+	Missense_Mutation	SNP	C	T	T	rs138538638		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:155267725C>T	uc021xge.1	-	8	1454	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	PLCH1_uc021xgd.1_Missense_Mutation_p.E393K|PLCH1_uc021xgf.1_Missense_Mutation_p.E375K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	393	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G392E(1)		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)			CAGTGATTCTCGATAGACAAT	0.448000														43			9		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143371182	143371182	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:143371182G>A	uc003evn.3	-	5	879	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	SLC9A9_uc011bnk.2_Missense_Mutation_p.H98Y	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	224					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TGCAGTTCATGGAAAATGGCC	0.468000														17			6		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28443892	28443892	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:28443892G>A	uc001zbj.3	-	48	7846	c.7740C>T	c.(7738-7740)tgC>tgT	p.C2580C	HERC2_uc001zbk.1_Silent_p.C115C	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2580					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)		CATACGCTCGGCAGCATCTAA	0.438000														87			9		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228861	57228861	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:57228861C>T	uc010lyk.1	-	1	684	c.46G>A	c.(46-48)Gga>Aga	p.G16R	SDR16C5_uc003xsy.1_Missense_Mutation_p.G16R|SDR16C5_uc010lyl.1_Missense_Mutation_p.G16R	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	16					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AGTGATTTTCCTAAGAAAATG	0.418000														56			6		0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139180971	139180971	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:139180971C>T	uc003eth.3	-	1	286	c.235G>A	c.(235-237)Gat>Aat	p.D79N		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	79					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TGCCGGTTATCCAGGCTCTTT	0.423000														86			10		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	860738	860738	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:860738G>A	uc001ifs.1	-	15	1914	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	625							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AGGGCGGAAGGAAGTCTGTCC	0.577000														7			3		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583655	82583655	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82583655C>T	uc003uhx.2	-	4	6903	c.6614G>A	c.(6613-6615)aGc>aAc	p.S2205N	PCLO_uc003uhv.2_Missense_Mutation_p.S2205N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2136					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGGTTATGCTATCCAGGGT	0.418000														31			9		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49151470	49151470	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:49151470G>A	uc003cwd.2	-	15	2470	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	USP19_uc003cwa.3_Silent_p.L525L|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Silent_p.L820L|USP19_uc011bcg.2_Silent_p.L808L|USP19_uc003cwc.2_Silent_p.L475L|USP19_uc011bch.2_Silent_p.L818L	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	717					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTCTGAGAGAGGGAGTCCA	0.537000														50			19		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117724340	117724340	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117724340G>A	uc003pxp.1	-	5	738	c.539C>T	c.(538-540)tCc>tTc	p.S180F	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	180	Fibronectin type-III 1.				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)		ACTTGGAGGGGAGTAGAGCTG	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									48			5		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983739	97983739	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:97983739C>T	uc003dsi.1	+	0	611	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTAAAGATTTCCTGTACTGAT	0.299000														20			4		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101100660	101100660	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:101100660A>C	uc003pqk.3	-	17	3258	c.2929T>G	c.(2929-2931)Tcc>Gcc	p.S977A	ASCC3_uc011eai.1_Missense_Mutation_p.S879A	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCAGTTGAGGAAAAATATCCA	0.358000														26			4		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242526	53242526	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53242526C>T	uc001sbc.1	-	0	253	c.189G>A	c.(187-189)ggG>ggA	p.G63G		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	63	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAACCGCACCCCCAGCCTAC	0.642000														31			5		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62954393	62954393	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:62954393C>T	uc001sre.3	+	25	3923	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	MON2_uc010ssn.2_Missense_Mutation_p.P1178S|MON2_uc009zqj.3_Missense_Mutation_p.P1178S|MON2_uc010ssl.2_Missense_Mutation_p.P1106S|MON2_uc010ssm.2_Missense_Mutation_p.P1155S|MON2_uc001srf.3_Missense_Mutation_p.P941S|MON2_uc001srg.3_Missense_Mutation_p.P53S	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1179					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GATTGTGTCCCCTGTCAGAGA	0.448000														50			7		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166895950	166895950	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:166895950G>A	uc002udo.4	-	15	2799	c.2572C>T	c.(2572-2574)Ctc>Ttc	p.L858F	SCN1A_uc010fpk.3_Missense_Mutation_p.L830F|SCN1A_uc021vsb.1_Missense_Mutation_p.L847F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	858						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATGAACGGAGAACAGATAAT	0.353000														17			3		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142476601	142476601	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:142476601C>T	uc003ywi.2	-	18	2466	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K	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.	795							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)			GGGTCTTTTCCTTGGCTTGCG	0.647000														28			7		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20330963	20330963	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20330963G>A	uc002dgv.3	-	6	1078	c.995C>T	c.(994-996)gCt>gTt	p.A332V	GP2_uc002dgw.3_Missense_Mutation_p.A329V|GP2_uc002dgx.3_Missense_Mutation_p.A185V|GP2_uc002dgy.3_Missense_Mutation_p.A182V	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	332	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTGCAAGGCAGCTTGGAGGCT	0.473000														117			15		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264056	48264056	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48264056C>T	uc002iqm.3	-	47	3885	c.3759G>A	c.(3757-3759)aaG>aaA	p.K1253K	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1253	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGCGGGGTTCTTGCGGCTGC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							131			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586793	179586793	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179586793C>T	uc021vsy.1	-	74	19090	c.18865G>A	c.(18865-18867)Gat>Aat	p.D6289N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2950N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7216	Ig-like 44.						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)			CACTCAAAATCAGCACTTTCT	0.413000														144			12		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192525	66192525	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66192525C>T	uc001ohx.1	+	6	2340	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S	NPAS4_uc010rpc.1_Missense_Mutation_p.P512S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	722					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						TACCCCAGATCCCAGTGAGGA	0.587000														74			16		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880368	74880368	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74880368G>A	uc001owb.3	+	4	994	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Missense_Mutation_p.G56D|SLCO2B1_uc010rrs.2_Missense_Mutation_p.G84D|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Missense_Mutation_p.G178D	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	200					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACCCTGCTGGGCGTGGGCGGG	0.607000														63			4		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644302	20644302	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:20644302C>T	uc001ytg.3	-	21	3281	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.E858K					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCACCACCTCCTCCGCCAGT	0.627000														59			4		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39492447	39492447	+	Splice_Site	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:39492447A>G	uc002rro.3	-	28	2124	c.2033_splice	c.e28-1	p.V678_splice	MAP4K3_uc002rrp.3_Splice_Site_p.V657_splice|MAP4K3_uc010yns.2_Splice_Site_p.V231_splice	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	678	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGATTTCTTACTGTCAAAGC	0.303000														72			9		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56358051	56358051	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56358051G>A	uc002ivu.1	-	0	246	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	23					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TCTCTGCAGTGAGACCCCCAG	0.587000														56			7		0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36099603	36099603	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36099603C>T	uc002hok.4	-	1	593	c.372G>A	c.(370-372)atG>atA	p.M124I	HNF1B_uc010wdi.2_Missense_Mutation_p.M124I|HNF1B_uc021tvv.1_Missense_Mutation_p.M124I|HNF1B_uc021tvw.1_Missense_Mutation_p.M124I	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	124					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AACCCTTGATCATTTTAGCAG	0.532000														17			3		0	0	1	0	0
C7orf42	55069	broad.mit.edu	37	7	66410237	66410237	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:66410237T>G	uc003tvk.3	+	2	698	c.434T>G	c.(433-435)aTt>aGt	p.I145S	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	145						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						GGGCATCAGATTGGACTTTCA	0.478000														90			13		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147854	67147854	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:67147854C>T	uc001dcr.3	+	14	1334	c.1117C>T	c.(1117-1119)Ccg>Tcg	p.P373S	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.P140S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	373	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGTACTATCGCCGCTCAATTT	0.542000														240			16		0	0	1	0	0
ANG	283	broad.mit.edu	37	14	21162093	21162093	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:21162093T>C	uc021rok.1	+	0	370	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	ANG_uc001vxw.4_Missense_Mutation_p.F124L|RNASE4_uc001vxy.4_Intron|RNASE4_uc001vxx.4_Intron|ANG_uc001vxz.3_Missense_Mutation_p.F124L|RNASE4_uc001vya.3_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	Homo sapiens angiogenin, ribonuclease, RNase A family, 5 (ANG), transcript variant 1, mRNA.	124					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|rRNA transcription|response to hormone stimulus|response to hypoxia	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|rRNA binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CACAGCGGGGTTCAGAAACGT	0.522000														73			12		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837122	40837122	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40837122C>T	uc002iay.3	+	3	693	c.477C>T	c.(475-477)atC>atT	p.I159I	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	159	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCGGCAAGATCGGCCTGAGGC	0.662000														52			5		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18439861	18439861	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18439861G>A	uc001ipr.2	+	1	230	c.170G>A	c.(169-171)gGa>gAa	p.G57E	CACNB2_uc001ipt.2_Missense_Mutation_p.G57E|CACNB2_uc009xjz.1_Missense_Mutation_p.G57E|CACNB2_uc001ips.2_Missense_Mutation_p.G57E|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.G29E|CACNB2_uc001ipv.3_Missense_Mutation_p.G29E|CACNB2_uc009xka.2_Missense_Mutation_p.G29E	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	57					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGATCTGATGGAAGCACGTCA	0.294000														97			7		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73551077	73551077	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:73551077G>A	uc001jrx.4	+	44	6619	c.6229G>A	c.(6229-6231)Gag>Aag	p.E2077K		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2080	Cadherin 20.				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						CCATCTGCTAGAGAACTGCCC	0.637000														22			4		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47736562	47736562	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:47736562G>T	uc002xud.3	-	8	1481	c.1070C>A	c.(1069-1071)cCg>cAg	p.P357Q	STAU1_uc002xua.3_Missense_Mutation_p.P276Q|STAU1_uc002xub.3_Missense_Mutation_p.P282Q|STAU1_uc002xuc.3_Missense_Mutation_p.P276Q|STAU1_uc002xue.3_Missense_Mutation_p.P276Q|STAU1_uc002xuf.3_Missense_Mutation_p.P282Q|STAU1_uc002xug.3_Missense_Mutation_p.P357Q	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	357						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CTGCGCCTGCGGGACTTTGAA	0.562000														37			4		0.00909568	0.009119	1	1	0
SFPQ	6421	broad.mit.edu	37	1	35658311	35658311	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:35658311C>T	uc001bys.3	-	0	433	c.340G>A	c.(340-342)Gga>Aga	p.G114R		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	114	Gln/Glu/Pro-rich.				DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGGCCGGGTCCCTGAGCAACG	0.761000			T	TFE3	papillary renal cell									7			4		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180273	117180273	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117180273G>A	uc003vjd.3	+	7	1121	c.989G>A	c.(988-990)gGa>gAa	p.G330E	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	330	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTAATCAAAGGAATCATCCTC	0.463000									Cystic Fibrosis					68			15		0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24358098	24358098	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:24358098G>A	uc003ndz.1	+	0	968	c.231G>A	c.(229-231)acG>acA	p.T77T	DCDC2_uc003ndx.3_5'UTR|DCDC2_uc003ndy.3_Intron	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	Homo sapiens kidney associated antigen 1 (KAAG1), mRNA.	77					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						AGAAACTGACGAATCCACAGG	0.617000														34			3		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112028387	112028387	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112028387C>T	uc001ebf.3	-	4	1715	c.948G>A	c.(946-948)agG>agA	p.R316R	ADORA3_uc001ebg.4_Silent_p.R235R	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GACTTCTCCTCCTTTTGGTCA	0.428000														83			4		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155278420	155278420	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:155278420C>T	uc003inw.2	-	5	751	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	251	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K250K(1)|p.K250N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ttcattacttccttgtctgct	0.438000														70			7		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167035297	167035297	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:167035297C>T	uc011bpc.2	-	12	1409	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ZBBX_uc003feq.3_Missense_Mutation_p.E329K|ZBBX_uc003fep.3_Missense_Mutation_p.E358K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	358						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCATCGTTTTCATTTTGAGAA	0.333000														63			5		0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3773149	3773149	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:3773149G>A	uc002fwv.3	-	13	1420	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	CAMKK1_uc002fwt.3_Silent_p.I386I|CAMKK1_uc002fwu.3_Silent_p.I386I	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	386					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACATCTTCAGGATCAGGTCCT	0.582000														51			18		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347200	48347200	+	Silent	SNP	C	T	T	rs141730559		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48347200C>T	uc010rhv.2	+	0	708	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTTGAACTTCCTCATGCTGG	0.522000														47			4		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100348538	100348538	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:100348538G>A	uc003duc.3	+	1	480	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	71					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTGGAAAGGACTGAGATGT	0.388000														53			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720598	140720598	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140720598C>T	uc003ljk.2	+	0	2245	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S687L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	688					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)			CCCAACGATTCGGACCTCACT	0.682000														150			15		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135279382	135279383	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:135279382_135279383CC>TT	uc003vsw.3	+	12	1949_1950	c.1918_1919CC>TT	c.(1918-1920)cct>TTt	p.P640F		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	640					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CAGTATTCCCCCTGTCCTAAAA	0.490000														77			7		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409243	56409243	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56409243G>A	uc001njb.1	-	0	673	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AAGATACACAGGTAGGAAATG	0.448000														120			22		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675914	62675914	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:62675914G>A	uc021ooc.1	+	4	1903	c.1468G>A	c.(1468-1470)Gga>Aga	p.G490R	L1TD1_uc001dae.4_Missense_Mutation_p.G490R	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	490										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CTCTGAAACAGGAAAGGTAAA	0.408000														58			5		0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019901	20019902	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20019901_20019902GG>AA	uc001vwc.3	-	0	371_372	c.319_320CC>TT	c.(319-321)ccc>TTc	p.P107F	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	107										endometrium(4)|kidney(1)|lung(4)	9						CCTGCAGCAGGGGAAGCAGTGG	0.614000														228			9		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748493	67748493	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:67748493G>A	uc009xpn.1	-	15	2345	c.2222C>T	c.(2221-2223)tCa>tTa	p.S741L	CTNNA3_uc001jmw.2_Missense_Mutation_p.S741L	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	741					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTTGATCCTGATTCTGATAT	0.388000														71			6		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733682	152733682	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152733682G>A	uc001fal.1	+	1	1676	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	KPRP_uc021ozf.1_Missense_Mutation_p.E540K	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	540						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGGGGCAAGAGAGTGGTGC	0.577000														57			11		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36848055	36848055	+	Missense_Mutation	SNP	G	A	A	rs144671254	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:36848055G>A	uc002xhy.1	-	10	2805	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Missense_Mutation_p.R123C	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	845										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTTCCAGGCGGCCCAGGCGG	0.632000														109			7		0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44190810	44190810	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44190810G>A	uc002xow.3	-	1	154	c.75C>T	c.(73-75)ttC>ttT	p.F25F	WFDC8_uc002xox.3_Silent_p.F25F|5S_rRNA_uc021wek.1_5'Flank	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	25						extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GAAGCAGCAGGAAAGCTACAT	0.483000														38			5		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698850	48698850	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:48698850C>T	uc003cuf.1	-	2	1428	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	CELSR3_uc003cul.3_Silent_p.Q406Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	406	Cadherin 2.				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)		ACCCGTGGTCCTGCGCGGTCA	0.667000														41			6		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938643	2938643	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:2938643C>T	uc001ajz.3	+	0	598	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	131						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCGAGAACTTCGGCGTGCCCG	0.632000														43			6		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350858	101350858	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:101350858C>T	uc010txj.1	-	0	327	c.268G>A	c.(268-270)Gat>Aat	p.D90N	MIR432_uc021sce.1_Non-coding_Transcript|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	90										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TTGGGTGGATCCTCTATTTCC	0.557000														62			10		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371293	48371293	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48371293C>T	uc001jex.3	+	1	923	c.761C>T	c.(760-762)tCc>tTc	p.S254F	ZNF488_uc021ppx.1_Missense_Mutation_p.S254F	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCCTCATCATCCTCCACCACT	0.602000														45			4		0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114332480	114332480	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:114332480G>A	uc010mue.3	-	8	1033	c.770C>T	c.(769-771)cCa>cTa	p.P257L	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.2_Missense_Mutation_p.P257L|PTGR1_uc004bfh.2_Missense_Mutation_p.P257L|PTGR1_uc004bfi.3_Missense_Mutation_p.P257L|PTGR1_uc004bfj.3_Missense_Mutation_p.P134L	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN	Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.	257	Pro-rich.				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						AACAATCTCTGGGGGTGGGCC	0.537000														13			6		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183635329	183635329	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:183635329G>A	uc003ivd.1	+	11	2386	c.2311G>A	c.(2311-2313)Gca>Aca	p.A771T	ODZ3_uc003ive.1_Missense_Mutation_p.A177T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	771	EGF-like 8.				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)		ATGGAGAGGAGCAGGCTGTGA	0.517000														34			5		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342456	40342456	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40342456G>A	uc002rrx.3	-	9	2883	c.2859C>T	c.(2857-2859)ctC>ctT	p.L953L	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.L948L|SLC8A1_uc002rsb.2_Silent_p.L945L|SLC8A1_uc002rrz.3_Silent_p.L940L|SLC8A1_uc002rsa.3_Silent_p.L917L|SLC8A1_uc002rsd.4_Silent_p.L917L	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	953					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGAGCCATAGGAGCACAAAGA	0.493000														59			4		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48643238	48643238	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:48643238G>A	uc002pia.1	-	11	1197	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	LIG1_uc010xze.1_Silent_p.A52A|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.A291A|LIG1_uc010xzg.1_Silent_p.A328A|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	359					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTGTGGCCTGGGCCACTGCCT	0.612000								Nucleotide excision repair (NER)						115			16		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395895	47395895	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47395895G>A	uc001cqp.4	-	11	1503	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	484					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.P484P(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGATCCTGGTGGGATCAGGCA	0.567000														131			34		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58381187	58381187	+	Silent	SNP	C	T	T	rs141986640		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:58381187C>T	uc002yau.3	+	7	1733	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	PHACTR3_uc002yat.3_Silent_p.F419F|PHACTR3_uc010zzw.2_Silent_p.F381F|PHACTR3_uc002yav.3_Silent_p.F381F|PHACTR3_uc002yaw.3_Silent_p.F381F|PHACTR3_uc002yax.3_Silent_p.F311F	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	422						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGAACATTTTCCCCAGAAGGA	0.542000														148			13		0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128695239	128695239	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:128695239G>A	uc004euq.3	+	9	1073	c.908G>A	c.(907-909)aGa>aAa	p.R303K	OCRL_uc004eur.3_Missense_Mutation_p.R303K	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	303					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GCTGTAGAGAGAGGTTTGCAT	0.398000														76			11		0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517458	75517458	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:75517458C>T	uc003udw.1	+	3	970	c.886C>T	c.(886-888)Ccg>Tcg	p.P296S	RHBDD2_uc003udv.1_Missense_Mutation_p.P155S	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	296						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CACCTTGCCTCCGTACCAGCC	0.662000														161			16		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513132	78513132	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:78513132C>T	uc001syp.3	+	14	3329	c.3156C>T	c.(3154-3156)ccC>ccT	p.P1052P	NAV3_uc001syo.3_Silent_p.P1052P|NAV3_uc010sub.2_Silent_p.P552P|NAV3_uc009zsf.3_Silent_p.P60P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1052	Ser-rich.					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						GGAAAAAGCCCCCCTCAGGCA	0.488000										HNSCC(70;0.22)				62			16		0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478251	79478251	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79478251G>A	uc002kak.2	-	3	1023	c.765C>T	c.(763-765)ttC>ttT	p.F255F	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Silent_p.F255F|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	255					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCGGACACCGGAACCGCTCAT	0.567000														92			15		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652970	55652970	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55652970C>T	uc010rip.2	+	1	158	c.66C>T	c.(64-66)ttC>ttT	p.F22F	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	22						intracellular	zinc ion binding										TGAACTACTTCCTAGACCCAG	0.493000														57			6		0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5075526	5075526	+	Missense_Mutation	SNP	C	T	T	rs141568446	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:5075526C>T	uc002cyg.3	-	9	1528	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	NAGPA_uc010buc.3_Missense_Mutation_p.A198T|NAGPA_uc002cyh.3_Non-coding_Transcript	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	501					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.A501T(2)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TCCTTCTCTGCGGCCAGAGGC	0.632000														180			12		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183111824	183111824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:183111824C>T	uc001gpy.4	+	27	4986	c.4729C>T	c.(4729-4731)Cga>Tga	p.R1577*		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1577	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACTATAACCGAGATATCGA	0.478000														46			7		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275794	159275794	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159275794G>A	uc001ftq.3	+	4	445	c.348G>A	c.(346-348)caG>caA	p.Q116Q		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	116	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGCTCCTTCAGGCCTCTGCTG	0.458000														34			9		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110838746	110838746	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:110838746G>A	uc001vqw.4	-	25	2005	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	628	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)			CAGGCCTGGGGATCCAGGGCC	0.622000														165			12		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415285	210415285	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:210415285C>T	uc001hhy.3	+	3	853	c.674C>T	c.(673-675)tCc>tTc	p.S225F	SERTAD4_uc009xcw.3_Missense_Mutation_p.S225F	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	225	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		gcctcttcttcctcctcatct	0.498000														114			10		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181707532	181707532	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:181707532G>A	uc009wxt.3	+	23	3777	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T	CACNA1E_uc001gow.3_Silent_p.T1194T|CACNA1E_uc009wxs.3_Silent_p.T1175T|CACNA1E_uc001gox.1_Silent_p.T420T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1194					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T1194T(3)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCACGGGCGTGTTCA	0.473000														173			40		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814720	137814720	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:137814720G>A	uc002tva.1	+	1	777	c.777G>A	c.(775-777)tcG>tcA	p.S259S	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Silent_p.S149S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.S259S(1)|p.S290S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCATCATTCGAAGTCTTGGG	0.388000														50			7		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546582	9546582	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9546582C>T	uc002wnl.2	-	5	1985	c.1440G>A	c.(1438-1440)atG>atA	p.M480I	PAK7_uc002wnk.2_Missense_Mutation_p.M480I|PAK7_uc002wnj.2_Missense_Mutation_p.M480I|PAK7_uc010gby.1_Missense_Mutation_p.M480I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	480	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCCGGAGGTCCATTTTCTTCA	0.443000														124			4		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404448	197404448	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197404448G>A	uc001gtz.3	+	8	3664	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	CRB1_uc010poz.2_Missense_Mutation_p.G1128E|CRB1_uc009wza.3_Missense_Mutation_p.G1040E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G633E|CRB1_uc001gub.1_Missense_Mutation_p.G801E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1152	EGF-like 15.				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						TTGCATGGAGGAAACTGTGAA	0.443000														52			9		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927556	119927556	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119927556C>T	uc001ehr.1	+	3	573	c.441C>T	c.(439-441)tcC>tcT	p.S147S	HAO2_uc001ehq.1_Silent_p.S147S	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	147	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GGGTAGAATCCCTAGGTTTCA	0.463000														94			21		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756619	56756619	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56756619C>T	uc010rjp.2	+	0	231	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTTCTGCTATCACTCCCAAGA	0.358000														47			8		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037670	75037670	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75037670C>T	uc001dgg.3	-	13	3943	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1242	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						GCTGCTAGCTCCTCTGCCTGG	0.627000														87			20		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634661	83634661	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:83634661C>T	uc003uhz.3	-	10	1669	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	452	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.G452R(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTACCTGTTCCGATAAACATA	0.358000														77			6		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181726085	181726085	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:181726085G>A	uc009wxt.3	+	29	4347	c.4152G>A	c.(4150-4152)gtG>gtA	p.V1384V	CACNA1E_uc001gow.3_Silent_p.V1384V|CACNA1E_uc009wxs.3_Silent_p.V1365V|CACNA1E_uc001gox.1_Silent_p.V610V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1384					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGTAGATGTGACAGAGGAAG	0.473000														71			12		0	0	1	0	0
IL29	282618	broad.mit.edu	37	19	39788657	39788657	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39788657C>T	uc002okv.3	+	2	400	c.303C>T	c.(301-303)gtC>gtT	p.V101V		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	101					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCTGAAGGTCCTGGAGGCCG	0.637000														61			10		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35046335	35046335	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35046335G>A	uc003ojx.4	+	14	2327	c.2185_splice	c.e14-1	p.G729_splice	ANKS1A_uc011dst.2_Splice_Site_p.G269_splice|ANKS1A_uc010jvp.2_Splice_Site_p.G103_splice	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	729	SAM 1.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGCTCTCAGGGGTCTAATGT	0.637000														121			16		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124692605	124692605	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:124692605G>A	uc011bke.2	-	16	4334	c.4266C>T	c.(4264-4266)aaC>aaT	p.N1422N	HEG1_uc003ehr.4_Silent_p.N176N|HEG1_uc003ehs.4_Silent_p.N1322N	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1322						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTGGAGGAGGTTTTTGGTAC	0.478000														47			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545860	82545860	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82545860C>T	uc003uhx.2	-	6	11731	c.11442G>A	c.(11440-11442)aaG>aaA	p.K3814K	PCLO_uc003uhv.2_Silent_p.K3814K|PCLO_uc010lec.3_Silent_p.K779K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3745	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.K3814K(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCTCTCTCCTTTAATAGGG	0.448000														66			7		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677071	100677071	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100677071G>A	uc003uxp.1	+	2	2427	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	792	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACCACTGAAGGTACCAG	0.483000														356			29		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890333	55890333	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55890333C>T	uc001nii.1	+	0	485	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162Y(2)|p.S162F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AATGTGGTTTCCATGAGCAGA	0.438000														119			21		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	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														463			34		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105937347	105937347	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105937347G>A	uc004emk.3	+	0	280	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 2, mRNA.	56						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTATTACAATGAAACCAGCAA	0.383000														51			13		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18629968	18629968	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:18629968G>A	uc003sui.3	+	2	315	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	HDAC9_uc003sue.3_Splice_Site_p.E89_splice|HDAC9_uc011jyd.2_Splice_Site_p.E89_splice|HDAC9_uc003suh.3_Splice_Site_p.E89_splice|HDAC9_uc003suj.3_Missense_Mutation_p.E92K|HDAC9_uc011jya.2_Splice_Site_p.E131_splice|HDAC9_uc003sua.1_Missense_Mutation_p.E111K|HDAC9_uc003sud.2_Splice_Site_p.E89_splice|HDAC9_uc011jyc.2_Missense_Mutation_p.E92K|HDAC9_uc011jyb.2_Splice_Site_p.E89_splice|HDAC9_uc003suf.2_Missense_Mutation_p.E120K|HDAC9_uc010kud.2_Missense_Mutation_p.E92K|HDAC9_uc011jye.2_Missense_Mutation_p.E61K|HDAC9_uc011jyf.2_Splice_Site_p.E58_splice|HDAC9_uc010kue.1_Splice_Site	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	89					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.Q91H(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTTGCAACAGGAACTTCTAGC	0.428000														20			3		0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132045206	132045206	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132045206G>A	uc003qcu.4	+	19	2120	c.1773G>A	c.(1771-1773)caG>caA	p.Q591Q	ENPP3_uc003qcv.3_Silent_p.Q591Q|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	591					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGTGAATCAGATGCTAAATC	0.373000														31			12		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809573	5809573	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5809573A>G	uc010qzo.2	-	0	474	c.474T>C	c.(472-474)gtT>gtC	p.V158V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGAAGGGATAACAAGCATCA	0.502000														40			5		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409767	159409767	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159409767C>T	uc010piv.2	+	0	256	c.219C>T	c.(217-219)ttC>ttT	p.F73F	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	73					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGTACTTCTTCCTGAGCATGC	0.458000														81			5		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61318916	61318916	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61318916G>A	uc001nrv.3	-	2	207	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SYT7_uc009ynr.3_Missense_Mutation_p.S52F|SYT7_uc001nrx.1_Non-coding_Transcript	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	52						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGTCTCCAAGGAATTCTTGTA	0.592000														74			10		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139202184	139202184	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:139202184G>A	uc003qif.2	+	14	2081	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	ECT2L_uc021zfx.1_Missense_Mutation_p.E586K|ECT2L_uc011edq.1_Missense_Mutation_p.E517K	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	586	DH.				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						GCAGATACTGGAAATTGTGAG	0.428000			"""N, Splice, Mis"""		ETP ALL									51			4		0	0	1	0	0
APOA1	335	broad.mit.edu	37	11	116706542	116706542	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:116706542C>T	uc001ppv.1	-	3	824	c.786G>A	c.(784-786)aaG>aaA	p.K262K		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	262	10 X approximate tandem repeats.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGTTGAGCTTCTTAGTGTACT	0.597000														71			19		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115216657	115216657	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115216657G>A	uc001efe.2	-	13	1994	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	AMPD1_uc001eff.2_Missense_Mutation_p.A645V	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	616					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGTGACATGGCGATGGGAAT	0.348000														65			8		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785810	12785810	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12785810G>A	uc009vnn.1	+	3	1133	c.900G>A	c.(898-900)aaG>aaA	p.K300K	AADACL3_uc001aug.1_Silent_p.K230K	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	300							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTGTACAAGAAAAGGCTGG	0.522000														101			11		0	0	1	0	0
SIGLEC17P	284367	broad.mit.edu	37	19	51671009	51671009	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51671009C>T	uc010ycv.2	+	1	363	c.353C>T	c.(352-354)cCc>cTc	p.P118L	SIGLEC17P_uc010ycu.2_Missense_Mutation_p.P118L|SIGLEC17P_uc002pvy.4_Missense_Mutation_p.P118L|SIGLEC17P_uc002pvz.4_Missense_Mutation_p.P118L					Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA.																		CTCGGTGATCCCTCAAGGAAC	0.522000														25			4		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457315	66457315	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66457315C>T	uc001ojd.3	-	27	5982	c.5910G>A	c.(5908-5910)ggG>ggA	p.G1970G	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1970					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						GCAGCTCCTTCCCCATGTCGA	0.617000														99			8		0	0	1	0	0
B2M	567	broad.mit.edu	37	15	45007679	45007679	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:45007679C>T	uc001zuc.3	+	1	186	c.126C>T	c.(124-126)ttC>ttT	p.F42F	B2M_uc010uek.1_Silent_p.F42F|B2M_uc010bdx.1_Silent_p.F42F	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	42	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		AGTCAAATTTCCTGAATTGCT	0.403000														96			20		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233541	168233541	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168233541G>A	uc010jjg.3	-	8	1265	c.845C>T	c.(844-846)tCg>tTg	p.S282L	SLIT3_uc003mab.3_Missense_Mutation_p.S282L|SLIT3_uc010jji.2_Missense_Mutation_p.S282L|SLIT3_uc003mac.1_Missense_Mutation_p.S79L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	282	LRRNT 2.				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)			CGTGCAGGGCGAAGGGCAGGA	0.572000														88			5		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886083	70886083	+	Silent	SNP	C	T	T	rs144050734		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:70886083C>T	uc003tvy.3	+	4	954	c.954C>T	c.(952-954)ctC>ctT	p.L318L	WBSCR17_uc003tvz.3_Silent_p.L17L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	318						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L318L(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCCTTCTCTCCCCATCAGGT	0.612000														37			3		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33559750	33559750	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:33559750C>T	uc001iwx.4	-	2	806	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	NRP1_uc001iwv.4_Missense_Mutation_p.E95K|NRP1_uc001iwy.4_Missense_Mutation_p.E95K|NRP1_uc009xlz.3_Missense_Mutation_p.E95K|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Missense_Mutation_p.E95K|NRP1_uc001ixa.2_Missense_Mutation_p.E95K|NRP1_uc001ixb.2_Missense_Mutation_p.E95K|NRP1_uc001ixc.1_Missense_Mutation_p.E95K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	95	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGTCCATTTTCATTTTCTCCA	0.373000														40			14		0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78619030	78619030	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:78619030C>T	uc004edh.3	-	1	470	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	ITM2A_uc011mqr.2_Intron	NM_004867	NP_004858	O43736	ITM2A_HUMAN	Homo sapiens integral membrane protein 2A (ITM2A), transcript variant 1, mRNA.	45						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCCTCTTTTTCCTGGGTGGCA	0.398000														21			4		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48805805	48805805	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:48805805G>A	uc001zwx.2	-	12	1924	c.1529C>T	c.(1528-1530)tCg>tTg	p.S510L		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	510	EGF-like 7; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGTGTACGAACCCTGGTT	0.473000														49			8		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194117579	194117579	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:194117579G>A	uc003ftv.1	-	1	1464	c.1433C>T	c.(1432-1434)cCg>cTg	p.P478L	GP5_uc021xiz.1_Missense_Mutation_p.P478L	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	478					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		gcggggaggcgggccccgggg	0.781000														39			14		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168065882	168065882	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:168065882G>A	uc010pln.2	-	3	1557	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P	GPR161_uc001gfb.3_Silent_p.P189P|GPR161_uc001gfc.3_Silent_p.P321P|GPR161_uc010pll.2_Silent_p.P231P|GPR161_uc010plm.2_Silent_p.P207P|GPR161_uc009wvo.3_Silent_p.P338P|GPR161_uc001gfd.3_Silent_p.P321P|GPR161_uc001gfe.1_Silent_p.P321P	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	321					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CATAGATCAGGGGGTGGCAGA	0.567000														82			5		0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355239	42355239	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:42355239C>T	uc002xld.3	-	0	404	c.96G>A	c.(94-96)aaG>aaA	p.K32K	GTSF1L_uc002xlc.3_Silent_p.K32K	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	32							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTGGGGTTCTTTCTCCTGC	0.498000														93			19		0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9953126	9953126	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:9953126G>A	uc003btu.3	+	13	1197	c.1193_splice	c.e13-1	p.G398_splice	CIDEC_uc003bto.3_Intron|IL17RE_uc011atn.1_Splice_Site|IL17RE_uc003bty.3_Splice_Site|IL17RE_uc003btx.3_Splice_Site_p.G242_splice|IL17RE_uc010hcq.3_Splice_Site_p.G358_splice|IL17RE_uc003btw.3_Splice_Site_p.G358_splice	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	358						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)		GCCCCAAACAGGGTCTCTCAC	0.537000														121			13		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879032	228879032	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228879032G>A	uc001htf.3	+	3	988	c.322_splice	c.e3-1	p.D108_splice	RHOU_uc021pkj.1_Splice_Site	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	108					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TTGGTTGCAGGATGAATTTGA	0.448000														180			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179442498C>T	uc021vsy.1	-	271	61176	c.60951G>A	c.(60949-60951)tcG>tcA	p.S20317S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S14012S|TTN_uc021vta.1_Silent_p.S13945S|TTN_uc021vtb.1_Silent_p.S13820S|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21244	Fibronectin type-III 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)			TCCAAGACTTCGAAGGTAGAT	0.393000														76			5		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107688409	107688409	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107688409C>T	uc010ljo.1	-	27	4354	c.4270G>A	c.(4270-4272)Gaa>Aaa	p.E1424K	LAMB4_uc003vey.2_Missense_Mutation_p.E1424K|LAMB4_uc010ljp.1_Missense_Mutation_p.E393K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1424	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GATTTTGCTTCCTGGGCTTTT	0.478000														82			4		0	0	1	0	0
RRS1	23212	broad.mit.edu	37	8	67342133	67342133	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:67342133C>T	uc003xwa.3	+	0	871	c.767C>T	c.(766-768)cCc>cTc	p.P256L	ADHFE1_uc003xwb.4_5'Flank|ADHFE1_uc003xwd.4_5'Flank|ADHFE1_uc003xwc.4_5'Flank|ADHFE1_uc003xwe.4_5'Flank|ADHFE1_uc003xwf.4_5'Flank|ADHFE1_uc011les.2_5'Flank|LOC100505676_uc022avk.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	Homo sapiens RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) (RRS1), mRNA.	256					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AAGTTTCAACCCCTTTTCGGG	0.577000														30			6		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282156	168282156	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:168282156G>A	uc001gfl.3	+	7	1314	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*	TBX19_uc001gfj.4_Nonsense_Mutation_p.W289*|TBX19_uc001gfm.3_Nonsense_Mutation_p.W124*	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	421					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGTCCACCTGGACAGCAGTGG	0.627000														42			5		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088176	92088176	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:92088176G>A	uc001xzs.1	-	18	2176	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	CATSPERB_uc010aub.1_Missense_Mutation_p.A201V	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	679					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGTAGCAATGGCTAATGCATT	0.418000														39			7		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65377018	65377018	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:65377018T>A	uc003dmn.3	-	13	2741	c.2215A>T	c.(2215-2217)Aaa>Taa	p.K739*	MAGI1_uc003dmm.3_Nonsense_Mutation_p.K739*|MAGI1_uc003dmo.3_Nonsense_Mutation_p.K739*|MAGI1_uc003dmp.3_Nonsense_Mutation_p.K739*|MAGI1_uc010hnx.1_Nonsense_Mutation_p.K22*	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	739					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)		TGGCTGTCTTTCCTTTCCAGT	0.502000														32			9		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997210	82997211	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82997210_82997211CC>TT	uc003uhy.2	-	16	2640_2641	c.2019_2020GG>AA	c.(2017-2022)gtggaa>gtAAaa	p.E674K	SEMA3E_uc022agy.1_Missense_Mutation_p.E614K	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	674					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCTCCTCTTCCACTACCTCCA	0.475000														47			5		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075079	117075079	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:117075079G>A	uc001lcg.3	+	17	3256	c.2870G>A	c.(2869-2871)gGa>gAa	p.G957E	ATRNL1_uc010qsm.2_Missense_Mutation_p.G132E|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	957	PSI 5.					integral to membrane	sugar binding	p.P956T(1)		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)		GAACAGCCTGGATGTGGCTGG	0.428000														46			11		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276850	114276850	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:114276850C>T	uc003ibe.4	+	37	7176	c.7076C>T	c.(7075-7077)tCa>tTa	p.S2359L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2374L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2326					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)		TTTGGTAGTTCAGCCCACAAG	0.502000														48			10		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703934	4703934	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4703934G>A	uc001lzk.2	-	1	252	c.8C>T	c.(7-9)tCc>tTc	p.S3F	OR51E2_uc021qcr.1_Missense_Mutation_p.S3F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S3S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAGTTGCAGGAACTCATAGC	0.507000														41			4		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85961661	85961661	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:85961661C>T	uc001kcv.3	+	6	729	c.624C>T	c.(622-624)atC>atT	p.I208I	CDHR1_uc001kcw.3_Silent_p.I208I|CDHR1_uc009xst.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	208	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCACTACATCACCGTGGTCG	0.617000														20			6		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41410701	41410701	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:41410701T>A	uc001rmm.1	+	18	2515	c.2402T>A	c.(2401-2403)aTt>aAt	p.I801N	CNTN1_uc001rmn.1_Missense_Mutation_p.I790N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	801	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTAGCAGTCATTAATTCAGCA	0.428000														54			4		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358406	72358406	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:72358406C>T	uc009xqg.3	-	2	1232	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	PRF1_uc001jrf.4_Silent_p.R357R	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	357	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCAGTGCCTCCCGCCGCGGGT	0.697000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					35			5		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353004	17353004	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:17353004C>T	uc002dfa.3	-	2	839	c.754G>A	c.(754-756)Gac>Aac	p.D252N		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	252					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						GGGGGCTGGTCATACTTGGTC	0.617000														97			13		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123787621	123787621	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:123787621C>T	uc010nqy.3	-	6	1245	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	ODZ1_uc011muj.2_Missense_Mutation_p.G393E|ODZ1_uc004euj.3_Missense_Mutation_p.G394E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	394					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						TATCGCCCGTCCCTTCTGAAA	0.388000														51			22		0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39964115	39964115	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:39964115G>A	uc002rru.2	-	9	1309	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_Silent_p.I315I	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA.	424							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AATTGAAAGGGATGTTGCTCT	0.408000														79			16		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977783	70977783	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:70977783C>T	uc002ezr.3	-	41	6749	c.6598G>A	c.(6598-6600)Gag>Aag	p.E2200K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2201										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)				AGCCCGGTCTCGCCTCCGACA	0.617000														16			4		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055847	167055847	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:167055847C>T	uc010fpl.3	-	26	5610	c.5269G>A	c.(5269-5271)Gaa>Aaa	p.E1757K	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1768						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTACTTTCTTCAGTGGCAACA	0.393000														114			11		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135392890	135392890	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:135392890C>T	uc003vtb.3	-	2	1026	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	SLC13A4_uc003vta.3_Missense_Mutation_p.V113I	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	113						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GCCATCAAGACCATGCGCAGA	0.582000														123			5		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71026984	71026984	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:71026984G>A	uc003dol.3	-	10	1666	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	FOXP1_uc003dom.3_Missense_Mutation_p.S372L|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.S448L|FOXP1_uc003doo.3_Missense_Mutation_p.S448L|FOXP1_uc003dop.3_Missense_Mutation_p.S448L|FOXP1_uc021xao.1_Missense_Mutation_p.S448L|FOXP1_uc003doq.1_Missense_Mutation_p.S447L|FOXP1_uc003doi.3_Missense_Mutation_p.S348L|FOXP1_uc003dok.3_Missense_Mutation_p.S374L|FOXP1_uc003doj.3_Missense_Mutation_p.S450L|FOXP1_uc003dor.1_Missense_Mutation_p.S226L	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	448					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCTACCTGACGAAATGGGCAC	0.488000			T	PAX5	ALL									70			10		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444565	75444565	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:75444565C>T	uc001sxg.1	-	2	1764	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	KCNC2_uc009zry.3_Missense_Mutation_p.G407E|KCNC2_uc001sxe.3_Missense_Mutation_p.G407E|KCNC2_uc001sxf.3_Missense_Mutation_p.G407E|KCNC2_uc010stw.1_Missense_Mutation_p.G407E	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	407					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGGTTGAGCTCCCACTCTCTC	0.448000														52			5		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845206	53845206	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:53845206G>A	uc003dgv.4	+	47	6422	c.6259G>A	c.(6259-6261)Gaa>Aaa	p.E2087K	CACNA1D_uc003dgu.4_Missense_Mutation_p.E2107K|CACNA1D_uc003dgy.4_Missense_Mutation_p.E2063K|CACNA1D_uc003dgw.4_Missense_Mutation_p.E1754K|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2087					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AACAAAACACGAAATCGCTGA	0.552000														64			12		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241555870	241555870	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:241555870C>T	uc002vzq.2	+	2	535	c.339C>T	c.(337-339)ttC>ttT	p.F113F	GPR35_uc010fzi.2_5'UTR|GPR35_uc010fzh.2_5'UTR			Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 3, mRNA.	128	Calpain catalytic.				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)		ggctggagttcccatgcctgc	0.537000														277			49		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389398	20389398	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20389398C>T	uc010tkw.2	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211L(2)|p.F211S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAAGCACTTTCTCTCTCTTGG	0.423000														370			11		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169492555	169492555	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:169492555G>A	uc001ggg.1	-	20	6073	c.5928C>T	c.(5926-5928)atC>atT	p.I1976I		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1976	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTTGGGTCTGGATCCCTGTGA	0.448000														45			13		0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99489852	99489852	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99489852G>A	uc003usd.3	-	6	1636	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	TRIM4_uc003use.3_Silent_p.L453L|TRIM4_uc011kjc.2_Silent_p.L309L	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	479	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AAAATGGCCGGAGGCGTGAGA	0.502000														77			30		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306726	54306726	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:54306726C>T	uc021smr.1	+	0	1626	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	UNC13C_uc021sms.1_Silent_p.F542F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	542					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGATTTTTTCACTGCTAAAC	0.373000														27			5		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	346429	346429	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:346429C>T	uc001qic.2	-	5	681	c.591G>A	c.(589-591)ggG>ggA	p.G197G	SLC6A13_uc009zdj.2_Silent_p.G197G|SLC6A13_uc010sdl.2_Silent_p.G105G|SLC6A13_uc010sdm.1_Silent_p.G78G	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	197					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGTGCTGGATCCCATCAGAGA	0.607000														80			13		0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226128681	226128681	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:226128681G>A	uc001hpt.2	-	0	403	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	LEFTY2_uc010pvk.2_Missense_Mutation_p.P54S|LEFTY2_uc009xek.2_Missense_Mutation_p.P54S	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	54					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					ACGTGGGCGGGGATGACCAGC	0.682000														48			8		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412846	19412846	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:19412846C>T	uc010tcj.1	-	0		c.33264G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGTCATTTTTCATTATGCATA	0.294000														51			7		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50854619	50854619	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50854619G>A	uc001jhz.2	+	7	1333	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	CHAT_uc001jhv.1_Missense_Mutation_p.G276R|CHAT_uc001jhx.1_Missense_Mutation_p.G276R|CHAT_uc001jhy.1_Missense_Mutation_p.G276R|CHAT_uc001jia.2_Missense_Mutation_p.G312R|CHAT_uc010qgs.1_Missense_Mutation_p.G276R	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	394					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGACGCGCCAGGAGGCGTGGA	0.637000														79			6		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945476	119945476	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:119945476C>T	uc003yon.4	-	1	417	c.94G>A	c.(94-96)Gac>Aac	p.D32N	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	32					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTTTCTTCGTCATAATGAAGG	0.468000														136			10		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135119	27135119	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:27135119G>A	uc003sye.3	-	0	507	c.413C>T	c.(412-414)cCc>cTc	p.P138L	HOXA1_uc003syd.3_Intron|HOXA1_uc022aao.1_Missense_Mutation_p.P138L|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	138						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGACCATGGGAGATGAGAG	0.577000														79			6		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2945772	2945772	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2945772C>T	uc010zqd.2	+	3	689	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PTPRA_uc002whj.3_Silent_p.F113F|PTPRA_uc010zqb.1_Silent_p.F113F|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.3_Silent_p.F113F|PTPRA_uc002whl.3_Silent_p.F113F|PTPRA_uc002whm.3_5'UTR|PTPRA_uc002whn.3_Silent_p.F113F	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	113					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATAACCAGTTCACGGATGCCA	0.468000														76			13		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18029085	18029085	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:18029085C>T	uc010gqw.1	+	15	4036	c.4036C>T	c.(4036-4038)Ctc>Ttc	p.L1346F	CECR2_uc010gqv.1_Missense_Mutation_p.L1206F|CECR2_uc002zml.2_Missense_Mutation_p.L1207F|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1390					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGTGGCTGCCCTCCCACCTCA	0.642000														26			4		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262019	158262019	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158262019G>A	uc001fru.3	+	2	766	c.474G>A	c.(472-474)ttG>ttA	p.L158L	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	158					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.S157R(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTGGAAGTTTGGCCCAAAGTG	0.453000														226			32		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826148	43826148	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:43826148C>T	uc010skx.2	-	20	3055	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E173K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E173K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1019	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGGAAAATTCATTGCAATTC	0.403000														39			8		0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3119271	3119271	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3119271C>T	uc002lxd.3	+	5	1045	c.803C>T	c.(802-804)tCc>tTc	p.S268F	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	268					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CAGAACTCCTCCGTCATCCTC	0.597000			Mis		uveal melanoma									81			16		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37899207	37899207	+	Silent	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37899207T>A	uc002hsr.3	+	3	638	c.363T>A	c.(361-363)ggT>ggA	p.G121G	GRB7_uc002hss.3_Silent_p.G121G|GRB7_uc021twu.1_Silent_p.G144G|GRB7_uc010cwc.3_Silent_p.G121G|GRB7_uc002hst.3_Silent_p.G121G	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	121	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGCAGCAGGTGCCACAGCTC	0.627000														57			11		0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76939	76939	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:76939C>T	uc002wcw.3	+	1	352	c.352C>T	c.(352-354)Cct>Tct	p.P118S		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	118					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			GACCAATACTCCTGAGACTAC	0.458000														157			26		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5445346	5445346	+	Splice_Site	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:5445346A>G	uc002gci.3	-	6	3084	c.2529_splice	c.e6-1	p.R843_splice	NLRP1_uc002gcg.1_Splice_Site_p.R843_splice|NLRP1_uc002gch.4_Splice_Site_p.R843_splice|NLRP1_uc002gck.3_Splice_Site_p.R843_splice|NLRP1_uc002gcj.3_Splice_Site_p.R843_splice|NLRP1_uc002gcl.3_Splice_Site_p.R843_splice|NLRP1_uc010clh.3_Splice_Site_p.R843_splice	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	843					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAGCCAGCCAACCTGTGGAAG	0.537000														7			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597016	179597016	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179597016G>A	uc021vsy.1	-	53	13173	c.12948C>T	c.(12946-12948)gcC>gcT	p.A4316A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.A977A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5243	Ig-like 23.						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)			CTAGCTGGGTGGCATCTCCCT	0.408000														99			11		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292576	6292576	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6292576G>A	uc001mcp.3	+	4	1402	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	CCKBR_uc001mcq.3_Missense_Mutation_p.A311T|CCKBR_uc001mcr.3_Splice_Site_p.S382_splice|CCKBR_uc001mcs.3_Missense_Mutation_p.A452T	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	383					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTACGCCTCGGCCTGTGTCAA	0.627000														120			9		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266907	18266907	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18266907G>A	uc001ipo.2	+	4	1101	c.828G>A	c.(826-828)agG>agA	p.R276R	SLC39A12_uc001ipn.2_Silent_p.R276R|SLC39A12_uc001ipp.2_Silent_p.R276R|SLC39A12_uc010qck.1_Silent_p.R142R	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	276					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATTTCAAAGGAAACAAAACA	0.363000														96			19		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134039325	134039325	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:134039325C>T	uc004cag.3	+	19	2903	c.2792C>T	c.(2791-2793)tCc>tTc	p.S931F	NUP214_uc004cah.3_Missense_Mutation_p.S921F|NUP214_uc004cai.3_Missense_Mutation_p.S361F|NUP214_uc004caf.1_Missense_Mutation_p.S920F|NUP214_uc010mzf.3_Missense_Mutation_p.S229F	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	931	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACACCAAATCCTTGCCCAAA	0.388000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									95			29		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568204	140568204	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140568204C>T	uc003liw.1	+	1	1310	c.1310C>T	c.(1309-1311)aCc>aTc	p.T437I		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	438	Cadherin 4.				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)			CACAGCATAACCCTGCAGGTC	0.582000														132			5		0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29978284	29978284	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:29978284C>T	uc002wvu.1	-	0	123	c.3G>A	c.(1-3)atG>atA	p.M1I	DEFB119_uc002wvs.3_Missense_Mutation_p.M1I|DEFB119_uc002wvt.3_Missense_Mutation_p.M1I	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	1					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGAAGTTTCATGGCTGGCA	0.532000														94			20		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767403	57767403	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57767403C>T	uc002yan.3	+	0	1329	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	443						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCGACCTGCCCACGCCCTACA	0.682000														31			5		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707786	137707786	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:137707786A>T	uc004cfe.3	+	51	4456	c.4074A>T	c.(4072-4074)caA>caT	p.Q1358H		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1358	Triple-helical 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)		CATAGGGTCAAGATGGTCCCC	0.567000														43			5		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092619	151092619	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151092619G>A	uc022cgv.1	+	0	483	c.483G>A	c.(481-483)atG>atA	p.M161I	MAGEA4_uc004fez.3_Missense_Mutation_p.M161I|MAGEA4_uc004ffa.3_Missense_Mutation_p.M161I|MAGEA4_uc004ffb.3_Missense_Mutation_p.M161I|MAGEA4_uc022cgu.1_Missense_Mutation_p.M189I|MAGEA4_uc004ffc.3_Missense_Mutation_p.M161I|MAGEA4_uc004ffd.3_Missense_Mutation_p.M161I	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	161	MAGE.						protein binding	p.K160N(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAAGATGATCTTTGGCA	0.517000														104			11		0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119308	133119308	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:133119308A>T	uc003epn.1	+	0	519	c.381A>T	c.(379-381)caA>caT	p.Q127H		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	127	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCCTTGAGCAAGTCAGTCAGG	0.612000														54			6		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369869	123369869	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:123369869C>T	uc003pzi.1	+	3	1536	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGAGAAAACTCGGAAAAGGGT	0.378000														75			11		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336563	126336563	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:126336563G>A	uc003ifj.4	+	4	6445	c.6445G>A	c.(6445-6447)Gat>Aat	p.D2149N	FAT4_uc011cgp.2_Missense_Mutation_p.D447N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2149	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGACATCAATGATAACAACCC	0.378000														50			12		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371380	48371380	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48371380C>T	uc001jex.3	+	1	1010	c.848C>T	c.(847-849)tCc>tTc	p.S283F	ZNF488_uc021ppx.1_Missense_Mutation_p.S283F	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGCAACCTGTCCTTTCGCCTA	0.597000														53			9		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71887252	71887252	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:71887252G>A	uc004eax.4	-	6	991	c.690C>T	c.(688-690)gtC>gtT	p.V230V	PHKA1_uc004eay.4_Silent_p.V230V|PHKA1_uc011mqi.2_Silent_p.V230V	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	230					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CATCAGCCAGGACATGGATAA	0.418000														29			4		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701519	50701519	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:50701519G>A	uc002xwk.3	-	8	1864	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	ZFP64_uc002xwj.3_Silent_p.S286S	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGGCCGCGCTGGAGCAGGAGT	0.672000														85			14		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004340	41004340	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:41004340G>A	uc002ibv.3	+	0	1140	c.980G>A	c.(979-981)gGa>gAa	p.G327E		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	327					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTGTCCAGGGAAGTCGAGTG	0.587000														58			7		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336775	151336775	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151336775G>A	uc010ntk.1	-	9	1644	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	468					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)	GATTGAATATGGCAAAGAGCA	0.507000														58			17		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50954832	50954832	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50954832C>T	uc009xog.3	-	8	1375	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	OGDHL_uc001jie.3_Silent_p.T420T|OGDHL_uc010qgt.2_Silent_p.T363T|OGDHL_uc010qgu.2_Silent_p.T211T|OGDHL_uc009xoh.2_Silent_p.T211T	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	420					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						TACCATTGGTCGTGTAGGAGG	0.607000														45			5		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684578	33684578	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:33684578G>A	uc001wru.3	+	2	395	c.331G>A	c.(331-333)Gac>Aac	p.D111N	NPAS3_uc001wrs.3_Missense_Mutation_p.D81N|NPAS3_uc001wrv.3_Missense_Mutation_p.D81N|NPAS3_uc001wrt.3_Missense_Mutation_p.D81N|NPAS3_uc001wrw.3_Missense_Mutation_p.D9N	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TAACCAGGGGGACCCTCCGTG	0.483000														51			11		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768540	57768540	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57768540G>A	uc002yan.3	+	0	2466	c.2466G>A	c.(2464-2466)agG>agA	p.R822R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	822						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCAGAGAGGAAGAAGCTGA	0.637000														43			12		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10312264	10312264	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:10312264A>G	uc011atr.2	+	3	1979	c.1398A>G	c.(1396-1398)caA>caG	p.Q466Q	TATDN2_uc003bvg.2_Silent_p.Q466Q|TATDN2_uc003bvf.3_Silent_p.Q466Q|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	466						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GAACATTCCAAGAGGAGATGC	0.532000														35			6		0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152638129	152638129	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:152638129G>A	uc003iml.3	-	3	580	c.539C>T	c.(538-540)cCc>cTc	p.P180L	PET112_uc003imm.4_Missense_Mutation_p.P180L	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	180						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACCGTCTTGGGGATCACCTG	0.527000														119			28		0	0	1	0	0
BC107108	0	broad.mit.edu	37	15	20362845	20362845	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:20362845T>C	uc001yte.1	+	0	158	c.107T>C	c.(106-108)gTt>gCt	p.V36A						RecName: Full=Putative BMS1-like protein ENSP00000383088;																		GAGGGAAATGTTGGATACGTG	0.502000														45			6		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53074101	53074101	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:53074101G>A	uc003xqz.2	-	8	1584	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	ST18_uc011ldq.1_Silent_p.F123F|ST18_uc011ldr.1_Silent_p.F441F|ST18_uc011lds.1_Silent_p.F381F|ST18_uc003xra.2_Silent_p.F476F|ST18_uc003xrb.2_Silent_p.F476F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACGGGAAATTGAATTCAATTT	0.418000														60			16		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905329	50905329	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50905329G>A	uc010eny.3	+	3	538	c.537G>A	c.(535-537)ggG>ggA	p.G179G	POLD1_uc002psb.4_Silent_p.G179G|POLD1_uc002psc.4_Silent_p.G179G|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.	179					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)		GTCGCGGGGGGAGGGAGCTGA	0.672000								DNA polymerases (catalytic subunits)						74			5		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868527	150868527	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150868527T>C	uc022cgt.1	+	2	116	c.67T>C	c.(67-69)Ttc>Ctc	p.F23L	PRRG3_uc004few.2_Missense_Mutation_p.F23L	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	23	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAATGAGTTCCTGGAGGA	0.557000														23			9		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175351	143175351	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143175351G>A	uc003wdc.1	+	0	386	c.386G>A	c.(385-387)tGg>tAg	p.W129*	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	129					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTCCCAGGGTGGGTGCCCTGG	0.483000														52			7		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64024099	64024099	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:64024099C>T	uc009ypi.3	+	9	1002	c.875C>T	c.(874-876)tCc>tTc	p.S292F	PLCB3_uc009ypg.2_Missense_Mutation_p.S292F|PLCB3_uc009yph.2_Missense_Mutation_p.S225F	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	292					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GACCAGATGTCCATGGAGGGC	0.647000														53			5		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842639	14842639	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:14842639G>A	uc003zlm.3	-	9	2229	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	471					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGCCACGGTGAAGAGAAACC	0.527000														59			6		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148247	34148247	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:34148247G>A	uc004ddg.3	-	0	2201	c.2149C>T	c.(2149-2151)Ccc>Tcc	p.P717S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	717										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						AAGAGCTTGGGGTCAATCAAA	0.408000														42			23		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89866725	89866725	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:89866725G>A	uc002bns.4	-	12	2457	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P	POLG_uc002bnr.4_Silent_p.P725P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	725					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGTGTCCTTGGGGCCACCAC	0.597000								DNA polymerases (catalytic subunits)						37			6		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585020	82585020	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82585020C>T	uc003uhx.2	-	4	5538	c.5249G>A	c.(5248-5250)gGa>gAa	p.G1750E	PCLO_uc003uhv.2_Missense_Mutation_p.G1750E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1681					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1750E(3)|p.G1681E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCTCTCTCCTTTTTTGTG	0.473000														111			27		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186281401	186281401	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:186281401G>A	uc001gru.4	+	10	3939	c.3888G>A	c.(3886-3888)acG>acA	p.T1296T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T1255T|PRG4_uc009wyl.3_Silent_p.T1203T|PRG4_uc009wym.3_Silent_p.T1162T|PRG4_uc010poo.2_Non-coding_Transcript|TPR_uc001grv.3_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1296			T -> M (in dbSNP:rs12134934).		cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATGGAGAAACGACACAGGTTA	0.443000														88			19		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247618	56247618	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56247618C>T	uc010wnp.2	+	0	602	c.602C>T	c.(601-603)tCc>tTc	p.S201F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCAAGATCTCCAACAGTGGG	0.512000														62			22		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830729	46830729	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46830729G>A	uc003oyo.3	-	14	2384	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	GPR116_uc011dwj.1_Missense_Mutation_p.P254S|GPR116_uc011dwk.1_Missense_Mutation_p.P128S|GPR116_uc003oyp.3_Missense_Mutation_p.P557S|GPR116_uc003oyq.3_Missense_Mutation_p.P699S|GPR116_uc010jzi.1_Missense_Mutation_p.P371S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	699					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCGCCAATGGGACTCTCAGGG	0.532000														111			15		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51747049	51747049	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:51747049G>A	uc010hlv.3	+	2	1250	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	337					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGGACCCTTGGAACAACAGCC	0.627000														39			8		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542621	2542621	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2542621G>T	uc002wgf.1	+	3	534	c.519G>T	c.(517-519)aaG>aaT	p.K173N	TMC2_uc002wgg.1_Missense_Mutation_p.K157N|TMC2_uc010zpw.1_Missense_Mutation_p.K4N|TMC2_uc010zpx.1_Missense_Mutation_p.K4N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	173	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				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						TGCGGAGCAAGCCCTGGCCCA	0.607000														53			5		0.000602214	0.000604662	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1049337	1049337	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:1049337G>A	uc002lqw.4	+	17	2684	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	ABCA7_uc010dsb.1_Missense_Mutation_p.G680E	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	818	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTTTCCTGGAAGCCCGCAG	0.672000														92			12		0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76506982	76506982	+	Missense_Mutation	SNP	C	T	T	rs141065796		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76506982C>T	uc021qno.1	+	0	322	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	TSKU_uc001oxt.3_Missense_Mutation_p.R108C	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	108						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CTCCCGCCTTCGCTACCTGGA	0.627000														40			9		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22465967	22465967	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22465967C>T	uc001wcp.2	+	0	72	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Nonsense_Mutation_p.Q15*|TCRA_uc001wcr.1_5'Flank|TCRA_uc001wcs.1_5'Flank|TCRA_uc010ajf.1_5'Flank|TCRA_uc010tmm.2_Intron|TCRA_uc001wcq.3_Nonsense_Mutation_p.Q15*|TCRA_uc010ajd.1_Nonsense_Mutation_p.Q15*					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		TCTATGGCTTCAACTGGCTAG	0.443000														35			9		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391404	48391404	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48391404G>A	uc001rqu.3	-	6	697	c.516C>T	c.(514-516)ccC>ccT	p.P172P	COL2A1_uc001rqv.3_Silent_p.P103P	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	172					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAAgaccagggggaccagggg	0.582000														26			3		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297845	139297845	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:139297845C>T	uc003etj.3	-	1	202	c.162G>A	c.(160-162)ggG>ggA	p.G54G	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.G17G|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	54					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCTTTCTTCCCATAGGTGT	0.567000														29			6		0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121490	18121490	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18121490C>T	uc002nhv.3	+	6	1265	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	ARRDC2_uc002nhu.3_Silent_p.F369F	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	374										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GCCCGTTCTTCGCCTACATCC	0.642000														73			5		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150909266	150909266	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150909266G>A	uc004fey.1	+	5	599	c.375_splice	c.e5-1	p.K125_splice		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	125					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)					GTCTTCTCAGGAAGAAATTTG	0.507000														103			15		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606699	21606699	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:21606699C>T	uc002npw.3	+	3	1357	c.1238C>T	c.(1237-1239)gCt>gTt	p.A413V	ZNF493_uc002npx.3_Missense_Mutation_p.A285V|ZNF493_uc002npy.3_Missense_Mutation_p.A285V|ZNF493_uc021urq.1_Missense_Mutation_p.A285V	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGGCAAAGCTTATAAGGAG	0.363000														46			4		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71216688	71216688	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:71216688G>A	uc001xmm.3	-	3	1112	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L	MAP3K9_uc010ttk.2_Missense_Mutation_p.P108L|MAP3K9_uc001xmk.3_Missense_Mutation_p.P65L|MAP3K9_uc001xml.3_Missense_Mutation_p.P371L	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	371	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCACGTAGAAGGAATAGGAAG	0.507000														56			12		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024351	55024351	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:55024351C>T	uc002lgn.3	+	2	867	c.510C>T	c.(508-510)atC>atT	p.I170I		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	170					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATAGTGGGATCCTGACAGGGA	0.408000														75			17		0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77057356	77057356	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:77057356G>A	uc003hjs.3	-	3	633	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	NUP54_uc010ije.3_Intron|NUP54_uc011cbs.2_Intron|NUP54_uc011cbt.2_Missense_Mutation_p.P121S|NUP54_uc003hjt.3_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	169	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CGGCAAAAGGGATTTTCTTGT	0.308000														55			17		0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30877808	30877808	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30877808C>T	uc003nsa.1	+	3	549	c.342C>T	c.(340-342)ttC>ttT	p.F114F	GTF2H4_uc010jsf.2_Silent_p.F114F|GTF2H4_uc011dmv.1_Silent_p.F58F	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	114					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACCCCATTTTCCGCCAGAACC	0.572000								Nucleotide excision repair (NER)						177			14		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:80529936C>T	uc021vjt.1	-	0	1009	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.D337N	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	337	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657000										HNSCC(69;0.2)				28			3		0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1219493	1219494	+	Splice_Site	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1219493_1219494GG>AA	uc001lsz.3	+	13		c.2417_splice	c.e13-1		MUC5B_uc021qbr.1_Intron|MUC5AC_uc009ycs.2_5'Flank					Homo sapiens mRNA for MUC5AC protein (tracheal), partial.											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCGTGGGCAGGCTGGACAGTG	0.668000														6			8		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	844788	844788	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:844788G>A	uc003gbm.4	-	25	3792	c.3593C>T	c.(3592-3594)cCa>cTa	p.P1198L	GAK_uc003gbn.4_Missense_Mutation_p.P1119L|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.P1051L	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1198					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AATGGTCTTTGGCCCTTTCTT	0.512000														71			8		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109190068	109190068	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:109190068C>T	uc003pss.4	+	3	507	c.333C>T	c.(331-333)tcC>tcT	p.S111S	ARMC2_uc011eao.2_5'UTR	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	111							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGGAGGATTCCTGCTTTTCCT	0.493000														55			9		0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7360037	7360037	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7360037C>T	uc002ghb.3	+	10	1542	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S	CHRNB1_uc010vty.2_Missense_Mutation_p.P429S	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	501					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				AGACCCCTTTCCTTGAAGACT	0.552000														30			9		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720081	10720081	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:10720081C>T	uc001aro.3	-	5	1338	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	CASZ1_uc001arp.1_Missense_Mutation_p.D340N|CASZ1_uc009vmx.2_Missense_Mutation_p.D364N|CASZ1_uc001arq.1_Missense_Mutation_p.D199N	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	340					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)		TTCTCCAGGTCGTACTTGGAT	0.607000														158			21		0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156830137	156830137	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:156830137G>A	uc003ipf.1	+	4	466	c.402G>A	c.(400-402)acG>acA	p.T134T		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	134					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TTCTGGAGACGATGACAGCCT	0.433000														20			11		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31348070	31348070	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:31348070G>A	uc001wqr.2	+	4	373	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	COCH_uc001wqp.2_Missense_Mutation_p.R98Q|COCH_uc001wqq.4_Missense_Mutation_p.R98Q|LOC100506071_uc001wqs.3_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	98	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTACCTGGTCGAGAAAACTAT	0.433000														39			5		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288615	74288615	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:74288615G>A	uc002jrd.1	-	3	1875	c.1695C>T	c.(1693-1695)gtC>gtT	p.V565V	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	565	Gln-rich.						protein binding	p.V565V(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTCCAGGTTGGACCAAACCAT	0.527000														47			6		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186402	95186402	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:95186402G>A	uc003ygh.2	-	5	636	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.L171F	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	171	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATCATGGGAAGCTGGATGACA	0.483000														144			24		0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44166325	44166325	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:44166325C>T	uc001ztl.3	-	13	1648	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	FRMD5_uc001ztj.1_Missense_Mutation_p.E164K|FRMD5_uc001ztk.1_Missense_Mutation_p.E397K|FRMD5_uc010uef.2_Missense_Mutation_p.E164K|FRMD5_uc001ztm.3_Missense_Mutation_p.E164K|FRMD5_uc001ztn.3_Missense_Mutation_p.E257K	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	491						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.E491K(2)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACCTGTTCCTCCTCGGGCCCG	0.567000														70			9		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48346753C>T	uc010rhv.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000														88			7		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78870098	78870098	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:78870098C>T	uc001jxn.3	-	7	1141	c.964G>A	c.(964-966)Gag>Aag	p.E322K	KCNMA1_uc021ptu.1_Missense_Mutation_p.E268K|KCNMA1_uc001jxj.2_Missense_Mutation_p.E322K|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.E142K|KCNMA1_uc001jxl.1_5'UTR|KCNMA1_uc001jxo.3_Missense_Mutation_p.E322K|KCNMA1_uc001jxm.3_Missense_Mutation_p.E322K|KCNMA1_uc001jxq.3_Missense_Mutation_p.E322K	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	322					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.V321V(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCTGAATTCTCCACCTAAAGC	0.453000														185			19		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909298	60909298	+	Missense_Mutation	SNP	G	A	A	rs138625956		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60909298G>A	uc002ycq.3	-	21	2750	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	LAMA5_uc021wfw.1_Missense_Mutation_p.P895S|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	895	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTCGAGGGGGTTGAAGCCA	0.667000														27			7		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589586	140589586	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140589586G>A	uc003liz.3	+	0	1296	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	PCDHB12_uc011dak.2_Silent_p.R32R	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	369	Cadherin 4.				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)			TGGTTTTCAGGATACGAGACA	0.438000														38			8		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997880	115997880	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:115997880G>A	uc003ibu.3	-	1	992	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	105	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGTGGTACTGAAATCGGCTG	0.408000														48			16		0	0	1	0	0
IL31	386653	broad.mit.edu	37	12	122657205	122657205	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:122657205G>A	uc001ubv.3	-	2	276	c.249C>T	c.(247-249)atC>atT	p.I83I	LRRC43_uc001ubw.4_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	Homo sapiens interleukin 31 (IL31), mRNA.	83						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CTGGGCTGTGGATGTTGTTTG	0.512000														32			8		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211436	78211436	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:78211436C>T	uc010bky.2	-	10	1095	c.331G>A	c.(331-333)Gag>Aag	p.E111K						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		AGCATCTCCTCCTGCTCTCGG	0.567000														147			31		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43919782	43919782	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:43919782G>A	uc010yny.2	+	3	399	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	PLEKHH2_uc002rte.3_Missense_Mutation_p.E106K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E106K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	106						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCAAAACTTGGAATTGCAACT	0.348000														65			5		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095690	103095690	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103095690G>A	uc002tbz.4	+	1	1106	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	217					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.E216G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGTGTTTGAGGAAGCGCGCGT	0.607000														21			3		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36766833	36766833	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:36766833G>A	uc010lvw.3	+	20	2198	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	704						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTAGAAACGAACTGGCAAG	0.468000														188			12		0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302298	6302298	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:6302298C>T	uc003wqi.3	+	7	1131	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	MCPH1_uc003wqh.3_Missense_Mutation_p.S352F|MCPH1_uc011kwl.2_Missense_Mutation_p.S304F	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	352						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCCAGGAGTTCCTCAGTAAAG	0.453000														24			5		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421053	105421053	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:105421053G>A	uc003dwc.3	-	11	2166	c.1844C>T	c.(1843-1845)cCa>cTa	p.P615L	CBLB_uc011bhi.2_Missense_Mutation_p.P637L|CBLB_uc003dwd.2_Missense_Mutation_p.P615L|CBLB_uc003dwe.2_Missense_Mutation_p.P615L	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	615	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCCAGGTTTTGGAGAGCCCTC	0.537000			Mis S		AML									116			8		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031158	32031158	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:32031158C>T	uc011axg.2	+	1	1136	c.587C>T	c.(586-588)tCt>tTt	p.S196F	ZNF860_uc021wuv.1_Missense_Mutation_p.S196F	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CAAAGAATTTCTTCTAGGCCC	0.348000														54			7		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48782181	48782181	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:48782181G>A	uc001zwx.2	-	24	3344	c.2949C>T	c.(2947-2949)tcC>tcT	p.S983S		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	983	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGCCCCGACGGAGCAGCAGC	0.602000														60			13		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44932133	44932133	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:44932133G>A	uc003coc.4	+	3	412	c.339G>A	c.(337-339)ctG>ctA	p.L113L	TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	113					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGCCATCCTGGGCAAGTACC	0.463000														67			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418483	179418483	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179418483G>A	uc021vsy.1	-	282	81770	c.81545C>T	c.(81544-81546)tCc>tTc	p.S27182F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20877F|TTN_uc021vta.1_Missense_Mutation_p.S20810F|TTN_uc021vtb.1_Missense_Mutation_p.S20685F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28109	Ig-like 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGGTGATGGATGACTTGGT	0.438000														56			10		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571824	43571824	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43571824C>T	uc001zrf.1	-	10	1683	c.1678_splice	c.e10+1	p.E560_splice		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	560					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)	CACACTCACCCTTCCCAAAGT	0.617000														155			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641608	179641608	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179641608G>A	uc021vsy.1	-	27	5208	c.4983C>T	c.(4981-4983)atC>atT	p.I1661I	TTN_uc021vsz.1_Silent_p.I1615I|TTN_uc021vta.1_Silent_p.I1615I|TTN_uc021vtb.1_Silent_p.I1615I|TTN_uc002unb.2_Silent_p.I1661I|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1661							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)			CCCGTGGGATGATTAACTTTC	0.468000														52			7		0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32587124	32587124	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:32587124A>C	uc003amg.3	-	4	1708	c.772T>G	c.(772-774)Tgc>Ggc	p.C258G	RFPL2_uc003ame.3_Missense_Mutation_p.C197G|RFPL2_uc003amf.3_Missense_Mutation_p.C168G|RFPL2_uc003amh.3_Missense_Mutation_p.C168G	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	258	B30.2/SPRY.						zinc ion binding	p.S257T(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GATTCTCTGCAGACTCCCAGG	0.592000														87			5		0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27620574	27620574	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27620574C>T	uc009vst.2	+	7	1259	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	WDTC1_uc001bno.3_Missense_Mutation_p.L242F|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	242							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GCAGAAACCCCTTCCGGACGG	0.547000														80			6		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029524	219029524	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219029524C>T	uc021vwq.1	-	0	411	c.411G>A	c.(409-411)ctG>ctA	p.L137L	CXCR1_uc002vhc.3_Silent_p.L137L	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	137					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGACAATGGCCAGGTAACGGT	0.527000														34			7		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28669455	28669455	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:28669455C>T	uc002kwl.4	-	4	1031	c.577G>A	c.(577-579)Gga>Aga	p.G193R	DSC2_uc002kwk.4_Missense_Mutation_p.G193R	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	193	Cadherin 1.				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)			TACAAGTTTCCAGTGTCTCTC	0.398000														40			5		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81751997	81751997	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81751997C>T	uc001szo.2	-	16	1799	c.1638_splice	c.e16-1	p.R546_splice	PPFIA2_uc010sug.2_Splice_Site|PPFIA2_uc021rbg.1_Splice_Site_p.R472_splice|PPFIA2_uc021rbh.1_Splice_Site_p.R447_splice|PPFIA2_uc021rbi.1_Splice_Site_p.R546_splice|PPFIA2_uc021rbj.1_Splice_Site_p.R546_splice|PPFIA2_uc021rbk.1_Splice_Site_p.R528_splice|PPFIA2_uc021rbl.1_Splice_Site_p.R546_splice|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Splice_Site_p.R113_splice|PPFIA2_uc021rbf.1_Splice_Site	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.	472										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						TAGATGAGTTCTGGAAAAAAG	0.373000														8			3		0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31238005	31238005	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31238005G>A	uc003nsy.3	-	3	942	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	HLA-C_uc021yuk.1_Missense_Mutation_p.P172S|HLA-C_uc011dnj.2_Missense_Mutation_p.P265S|HLA-C_uc011dnl.2_Missense_Mutation_p.P172S	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, C (HLA-C), transcript variant 1, mRNA.	293	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGGGTGAGGGGCTCTTGCAGC	0.582000														119			7		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132439914	132439914	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:132439914G>A	uc004exc.1	-	5	1253	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	GPC4_uc011mvg.1_Silent_p.L277L	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	347					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)					GTCCAGCTGGGAGGGGCTTGG	0.587000														150			35		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153219622	153219622	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:153219622G>A	uc004fjp.3	-	16	4756	c.4228C>T	c.(4228-4230)Cct>Tct	p.P1410S		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1410					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTGGGAAAGGAGCCAGCAGC	0.647000														35			9		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151859258	151859258	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:151859258G>A	uc003qol.3	+	2	354	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	89																	GAGCTACAAGGAAAACAATGC	0.398000														53			9		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800935	185800935	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:185800935C>T	uc002uph.3	+	3	1406	c.812C>T	c.(811-813)tCt>tTt	p.S271F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	271						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						CTTTTGAGTTCTGAGGAGAAA	0.393000														60			8		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366549	40366549	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40366549G>A	uc002rrx.3	-	8	2561	c.2537C>T	c.(2536-2538)tCa>tTa	p.S846L	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.S841L|SLC8A1_uc002rsb.2_Missense_Mutation_p.S838L|SLC8A1_uc002rrz.3_Missense_Mutation_p.S833L|SLC8A1_uc002rsa.3_Missense_Mutation_p.S810L|SLC8A1_uc002rsd.4_Missense_Mutation_p.S810L	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	846					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTGGCACTGATGTTCCAAG	0.453000														30			3		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831036	61831036	+	Silent	SNP	G	C	C	rs150889156	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61831036G>C	uc001jky.3	-	36	9941	c.9603C>G	c.(9601-9603)ccC>ccG	p.P3201P	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.	3201					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						CAGAAACCTCGGGAATTGGGC	0.488000														63			10		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114082	168114082	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168114082C>T	uc010jjg.3	-	29	3657	c.3237G>A	c.(3235-3237)gaG>gaA	p.E1079E	SLIT3_uc003mab.3_Silent_p.E1072E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1072	EGF-like 5.				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)			CATTGTCTGTCTCACAGAGCT	0.597000														43			4		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249566	177249566	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:177249566G>A	uc001glf.3	+	7	1566	c.1254G>A	c.(1252-1254)tgG>tgA	p.W418*	FAM5B_uc001glg.3_Nonsense_Mutation_p.W313*	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	418						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTACTGGTGGAACCGAATCC	0.507000														93			12		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973135	121973135	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121973135C>T	uc003eew.4	+	1	537	c.99C>T	c.(97-99)atC>atT	p.I33I	CASR_uc003eev.4_Silent_p.I33I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	33					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.I33I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGACATTATCCTTGGGGGGC	0.522000														116			10		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920898	247920898	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247920898C>T	uc010pza.2	-	0	811	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S270S(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACAGAGTGTCGCTCTCAGGC	0.498000														47			9		0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148562531	148562531	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:148562531G>A	uc003ewl.3	+	7	778	c.755G>A	c.(754-756)aGa>aAa	p.R252K		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	252					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GACCCCAACAGAAATTTTGAT	0.403000														73			9		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980866	40980866	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:40980866C>T	uc002xkg.3	-	9	1804	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	PTPRT_uc010ggj.3_Silent_p.G540G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	540	Fibronectin type-III 3.				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)				TGAACACTTTCCCCCTCTGGC	0.527000														95			13		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583078	7583078	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7583078G>A	uc003mxp.1	+	23	5862	c.5583G>A	c.(5581-5583)caG>caA	p.Q1861Q	DSP_uc003mxq.1_Silent_p.Q1262Q|DSP_uc021yle.1_Silent_p.Q1418Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1861	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)		AGCAAATTCAGAATGACCTGA	0.473000														67			5		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767710	143767710	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:143767710G>A	uc001ejt.3	-	0	172	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	47	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.R47C(2)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CCCTTATAACGAAATCCTTTC	0.483000														178			4		0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42043012	42043012	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42043012G>A	uc003bao.1	+	6	956	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	XRCC6_uc003bap.1_Missense_Mutation_p.V255M|XRCC6_uc011apc.1_Missense_Mutation_p.V246M|XRCC6_uc003bar.2_Missense_Mutation_p.V296M	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	296	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AAATGAACCAGTGAAAACCAA	0.453000								Non-homologous end-joining						179			15		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486883	131486883	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:131486883C>T	uc002trv.2	+	0	241	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	53				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACTGGCTTTTCCTTCCCTCAA	0.632000														34			7		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813824	158813824	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158813824C>T	uc001fsz.1	+	3	682	c.482C>T	c.(481-483)cCc>cTc	p.P161L		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	161					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CCCCCAGGTCCCTCAGGAGCC	0.473000														138			13		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040237	31040237	+	Silent	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31040237T>A	uc002nsu.1	+	3	3849	c.3711T>A	c.(3709-3711)ggT>ggA	p.G1237G	ZNF536_uc010edd.1_Silent_p.G1237G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1236H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCCAGGGTCTTCTCCAAG	0.667000														33			3		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271504	59271504	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:59271504C>T	uc001noa.1	+	0	456	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGATGGGGGGCTTTGTCCACT	0.547000														124			11		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242492	53242492	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53242492G>A	uc001sbc.1	-	0	287	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	75	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACAGGGAGAGCCCAGGCCCA	0.622000														41			4		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542564	28542564	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:28542564G>A	uc003nlo.3	-	2	2536	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	640					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTTATTTGCCGACCACAGCCC	0.398000														76			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647698	179647698	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179647698C>T	uc021vsy.1	-	17	3160	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	TTN_uc021vsz.1_Missense_Mutation_p.E933K|TTN_uc021vta.1_Missense_Mutation_p.E933K|TTN_uc021vtb.1_Missense_Mutation_p.E933K|TTN_uc002unb.2_Missense_Mutation_p.E979K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	979	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S979N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTAGTCTTCCCTGTACCAT	0.478000														84			7		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5988866	5988866	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5988866G>A	uc010qzu.2	-	0	859	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	287						integral to membrane|plasma membrane	olfactory receptor activity										AGAGCTGGGGGAATAAGGTGG	0.493000														26			4		0	0	1	0	0
FAM55A	120400	broad.mit.edu	37	11	114393665	114393665	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:114393665G>A	uc001ppa.3	-	4	1035	c.618C>T	c.(616-618)ctC>ctT	p.L206L	FAM55A_uc010rxd.2_Silent_p.L55L	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	348						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		GGAGGTAAATGAGTTTGCCTT	0.373000														26			12		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31167798	31167798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:31167798C>T	uc002rns.3	-	8	1408	c.768G>A	c.(766-768)tgG>tgA	p.W256*	GALNT14_uc002rnq.3_Nonsense_Mutation_p.W231*|GALNT14_uc010ymr.2_Nonsense_Mutation_p.W216*|GALNT14_uc002rnr.3_Nonsense_Mutation_p.W251*|GALNT14_uc010ezo.2_Nonsense_Mutation_p.W218*|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	251						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGTGGAGGCTCCAGTCAAACC	0.582000														42			10		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082807	11082807	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:11082807C>T	uc003jfa.1	-	16	2933	c.2788_splice	c.e16+1	p.G930_splice	CTNND2_uc010itt.2_Splice_Site_p.G839_splice|CTNND2_uc011cmy.1_Splice_Site_p.G593_splice|CTNND2_uc011cmz.1_Splice_Site_p.G497_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.G522_splice	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	930					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGAGAACATACCGATGAGCTC	0.507000														97			11		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17122971	17122971	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17122971G>A	uc001mmq.4	-	23	3927	c.3862C>T	c.(3862-3864)Cct>Tct	p.P1288S	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.P908S|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1288	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AGCACAAAAGGAGCCCGATCC	0.383000														37			4		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39888629	39888629	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39888629C>T	uc002hxm.1	-	2	579	c.567G>A	c.(565-567)tgG>tgA	p.W189*	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Nonsense_Mutation_p.W189*|HAP1_uc002hxo.1_Nonsense_Mutation_p.W197*|HAP1_uc002hxp.1_Nonsense_Mutation_p.W189*	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	189	HAP1 N-terminal.			Missing (in Ref. 6; CAB82785).	brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TAACGCTCTCCCAGACAGGTG	0.577000														19			6		0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505847	57505847	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57505847C>T	uc001nlc.2	+	3	482	c.386C>T	c.(385-387)cCc>cTc	p.P129L	CTNND1_uc001nlf.2_Intron|TMX2_uc001nld.2_Missense_Mutation_p.P35L|TMX2_uc001nle.2_Missense_Mutation_p.P91L|TMX2_uc021qji.1_Intron|C11orf31_uc021qjj.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	129	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ACGTGCAAACCCCCCCTATAT	0.423000														117			11		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148044410	148044410	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:148044410C>T	uc004fcp.3	+	12	3335	c.2856C>T	c.(2854-2856)acC>acT	p.T952T	AFF2_uc004fcq.3_Silent_p.T942T|AFF2_uc004fcr.3_Silent_p.T913T|AFF2_uc011mxb.2_Silent_p.T917T|AFF2_uc004fcs.3_Silent_p.T919T|AFF2_uc011mxc.2_Silent_p.T593T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	952					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)					TCACATCTACCAAACCTAAGA	0.423000														34			7		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221468	161221468	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:161221468C>T	uc011bpb.2	+	3	1172	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	391	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TATGTTTTTTCCTACCATATT	0.433000														32			4		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270127	36270127	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36270127C>T	uc010jwf.2	+	5	1265	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	PNPLA1_uc010jwe.1_Missense_Mutation_p.S336L|PNPLA1_uc003olw.1_Missense_Mutation_p.S327L	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	422	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCACCCACTTCACCCAGGCCA	0.602000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		107			16		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124743254	124743254	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124743254G>A	uc001qbc.3	+	9	1754	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	529	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TTCCACAGGGGAAGCCACATG	0.517000														14			4		0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411213	32411213	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32411213G>A	uc003obh.3	+	2	689	c.580G>A	c.(580-582)Ggc>Agc	p.G194S	HLA-DRA_uc003obi.3_Missense_Mutation_p.G169S	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	194	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GGAGCACTGGGGCTTGGATGA	0.517000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					78			11		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89895099	89895100	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:89895099_89895100CC>AT	uc003pna.2	-	6	1180_1181	c.725_726GG>AT	c.(724-726)cgg>cAT	p.R242H	GABRR1_uc011dzv.1_Missense_Mutation_p.R219H	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	242					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGAGTGAGATCCGTTCATCTGT	0.485000														90			12		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016578	38016578	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:38016578G>A	uc003gtb.3	+	2	1224	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TBC1D1_uc011byd.2_Missense_Mutation_p.R289Q|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.R160Q	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	289	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAGGAAAATCGAACTATGCTC	0.483000														30			8		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129040040	129040040	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:129040040G>A	uc003kvb.1	+	20	3250	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N	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.	1084					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)		AGACTGTGAGGATTATTCAAA	0.458000														105			9		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13260476	13260476	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:13260476C>T	uc010gce.1	+	2	580	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	192						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTTCCTCAACCCCCCCAGGGG	0.557000														54			9		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076690	34076690	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34076690G>A	uc001bxm.1	-	40	6471	c.6294C>T	c.(6292-6294)ttC>ttT	p.F2098F	CSMD2_uc001bxn.1_Silent_p.F2058F|CSMD2_uc001bxo.1_Silent_p.F971F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2058						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)				GGTCGCTGTGGAAATACACGG	0.557000														34			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183020	140183020	+	Silent	SNP	G	A	A	rs150112751	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140183020G>A	uc003lhf.2	+	0	2238	c.2238G>A	c.(2236-2238)ggG>ggA	p.G746G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.G746G	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	747					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)			GCGCGGTGGGGAGCTGGTCAT	0.637000														96			8		0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390038	107390038	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:107390038G>A	uc003prs.2	-	4	3007	c.2357C>T	c.(2356-2358)gCc>gTc	p.A786V		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	786	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGGTAGACGGCTTCCACGTA	0.602000														75			6		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908707	60908707	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60908707G>A	uc002ycq.3	-	23	3001	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	LAMA5_uc021wfw.1_Silent_p.I978I|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	978	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGCACGGTGATGAAGGCAG	0.701000														6			3		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247719744	247719744	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247719744G>A	uc001idf.3	+	1	212	c.65G>A	c.(64-66)gGa>gAa	p.G22E	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	22										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			CCCAAGAAAGGAAACCCAGAT	0.368000														16			5		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114171665	114171665	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:114171665T>C	uc001kzu.3	+	10	1156	c.1044T>C	c.(1042-1044)gcT>gcC	p.A348A	ACSL5_uc001kzs.3_Silent_p.A292A|ACSL5_uc001kzt.3_Silent_p.A292A|ACSL5_uc009xxz.3_Silent_p.A292A|ACSL5_uc010qrj.2_Silent_p.A74A	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	292					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)		CATAGCATGCTTATGAGCCCA	0.458000														93			16		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969738	160969738	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160969738C>T	uc009wtt.3	-	5	892	c.622G>A	c.(622-624)Gga>Aga	p.G208R	F11R_uc010pjv.2_Missense_Mutation_p.G159R|F11R_uc010pjw.2_Missense_Mutation_p.G212R|F11R_uc001fxf.4_Missense_Mutation_p.G208R	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	208	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CTGTATTCTCCAGTATCAGAG	0.483000														57			6		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17417442	17417442	+	Missense_Mutation	SNP	G	A	A	rs144151196		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:17417442G>A	uc002wpm.3	+	7	1153	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PCSK2_uc002wpl.3_Missense_Mutation_p.A248T|PCSK2_uc010zrm.2_Missense_Mutation_p.A232T	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	267	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCTACAGCGCCAGCTGGGG	0.617000														55			9		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89828358	89828358	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:89828358C>T	uc010bnp.1	+	17	1820	c.1730C>T	c.(1729-1731)tCt>tTt	p.S577F	FANCI_uc002bnm.1_Missense_Mutation_p.S577F|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.S398F|FANCI_uc002bnq.1_5'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	577					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATTACAATTCTGTCGCCAAT	0.433000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					112			16		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120979942	120979942	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:120979942C>T	uc010rzo.2	+	2	221	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	74					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)		GGAGTTGTTTCCTTCAATGTG	0.458000														31			3		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832469	24832469	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:24832469C>T	uc001iru.4	+	18	4673	c.4270C>T	c.(4270-4272)Ccc>Tcc	p.P1424S	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.P1107S|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.P260S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1424					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						AGAGATGACCCCCCGACAAGA	0.493000														37			5		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322440	55322440	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55322440C>T	uc010rig.2	+	0	658	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTCCAGCTTCCCTTTTGTGG	0.478000										HNSCC(20;0.049)				41			3		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048936	143048937	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143048936_143048937GG>AA	uc003wcr.1	+	22	2932_2933	c.2845_2846GG>AA	c.(2845-2847)ggc>AAc	p.G949N	CLCN1_uc011ktc.1_Missense_Mutation_p.G561N	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	949					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CAAGGTAGAGGGCGAGTTGGAG	0.649000														77			6		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370109	126370109	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:126370109C>T	uc003ifj.4	+	8	7938	c.7938C>T	c.(7936-7938)ttC>ttT	p.F2646F	FAT4_uc011cgp.2_Silent_p.F944F|FAT4_uc003ifi.1_Silent_p.F124F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2646	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						acggtggtttccctcctttct	0.368000														39			4		0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461141	119461141	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:119461141C>T	uc022bmo.1	+	0	1120	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.P374S|TRIM32_uc004bjx.2_Missense_Mutation_p.P374S	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	374					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GTTCAATCTTCCAGTCAGTCT	0.493000														59			18		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773657	157773657	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157773657C>T	uc001frg.3	-	2	410	c.297G>A	c.(295-297)agG>agA	p.R99R	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Silent_p.R99R|FCRL1_uc001fri.3_Silent_p.R99R|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	99	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTGGGATCTCCTGCTCCTCA	0.547000														63			11		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50712953	50712953	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:50712953G>A	uc003paf.3	+	5	1529	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	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.	339	H-S-H (helix-span-helix), dimerization.						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)					AGATGATCCTGGCGACCAAGT	0.408000														73			14		0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5096961	5096961	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:5096961C>T	uc021zzc.1	+	2	233	c.51C>T	c.(49-51)ttC>ttT	p.F17F	RBAK_uc003snr.3_Silent_p.F17F|RBAK_uc010kss.1_Silent_p.F17F|RBAK_uc003sns.1_Silent_p.F17F	NM_001204513	NP_001191442	Q9NYW8	RBAK_HUMAN	Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA.	17	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CTGTGGATTTCACCCAGGAGG	0.463000														139			15		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148761357	148761357	+	Missense_Mutation	SNP	G	A	A	rs148125308	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:148761357G>A	uc003qme.1	+	2	798	c.323G>A	c.(322-324)cGg>cAg	p.R108Q		NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	108							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTTCAGCTGCGGTCCCAGATC	0.443000														40			9		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064555	78064555	+	Silent	SNP	G	A	A	rs147012103	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:78064555G>A	uc002ffh.4	+	2	492	c.411G>A	c.(409-411)acG>acA	p.T137T	CLEC3A_uc021tlr.1_Silent_p.T85T	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	137	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ACATGGTCACGGAAGGCAAGT	0.522000														70			11		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967740	2967740	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:2967740C>T	uc022aqr.1	-	42	6938	c.6548G>A	c.(6547-6549)gGa>gAa	p.G2183E	CSMD1_uc011kwj.2_Missense_Mutation_p.G1576E|CSMD1_uc010lrg.3_Missense_Mutation_p.G252E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2184	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATGTAAACTCCGTGCCCTGG	0.468000														13			3		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72921280	72921280	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:72921280G>A	uc001xna.4	+	3	752	c.229G>A	c.(229-231)Gac>Aac	p.D77N	RGS6_uc021rvv.1_Missense_Mutation_p.D42N|RGS6_uc010ttn.2_Missense_Mutation_p.D77N|RGS6_uc021rvw.1_Missense_Mutation_p.D77N|RGS6_uc021rvx.1_Missense_Mutation_p.D77N|RGS6_uc021rvy.1_Missense_Mutation_p.D77N|RGS6_uc021rvz.1_Missense_Mutation_p.D77N|RGS6_uc001xmy.4_Missense_Mutation_p.D77N|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.D77N|RGS6_uc021rwa.1_Missense_Mutation_p.D77N|RGS6_uc021rwb.1_Missense_Mutation_p.D77N|RGS6_uc010ttp.1_Missense_Mutation_p.D8N|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	77	DEP.				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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCCATTGAGGACCCAGGTAC	0.478000														63			13		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62768208	62768208	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:62768208C>A	uc009yon.3	-	2	542	c.421G>T	c.(421-423)Gga>Tga	p.G141*	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Nonsense_Mutation_p.G18*|SLC22A8_uc001nwo.3_Nonsense_Mutation_p.G141*|SLC22A8_uc010rmm.2_Nonsense_Mutation_p.G50*|SLC22A8_uc001nwp.2_Nonsense_Mutation_p.G141*	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	141					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GACAGGTCTCCAAGCACGAGC	0.557000														20			8		0.000157383	0.00015826	1	1	0
OR52L1	338751	broad.mit.edu	37	11	6007660	6007660	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6007660C>T	uc001mcd.2	-	0	556	c.501G>A	c.(499-501)ctG>ctA	p.L167L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	167					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)		ATCCCCTCACCAGCACCACCA	0.502000														67			8		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089326	31089326	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:31089326G>T	uc002eap.3	+	1	1970	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	ZNF646_uc021tgu.1_Nonsense_Mutation_p.E561*	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACATGAAGAAGAGGCCACGGA	0.582000														48			5		3.59834e-05	3.6246e-05	1	1	0
E2F8	79733	broad.mit.edu	37	11	19256313	19256313	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:19256313G>A	uc001mpm.3	-	4	1266	c.744C>T	c.(742-744)ctC>ctT	p.L248L	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Silent_p.L248L	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	248					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L248I(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCACTCCAGGGAGTTCCACAA	0.448000														50			4		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188361702	188361702	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:188361702G>A	uc002upy.3	-	2	520	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TFPI_uc002uqa.2_Silent_p.F75F|TFPI_uc002uqb.2_Silent_p.F75F	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	75	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ACTGTCGAGTGAAAATATTGA	0.388000														43			4		0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95609539	95609539	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:95609539T>C	uc021oqe.1	+	1	458	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	TMEM56_uc001drd.4_Missense_Mutation_p.Y28H|TMEM56_uc001drb.3_Missense_Mutation_p.Y28H	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	28						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTTTGTAAGTTACTGGTTTTC	0.348000														41			8		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084744	3084744	+	Silent	SNP	G	A	A	rs112921386	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:3084744G>A	uc003bpc.3	+	21	2934	c.2595G>A	c.(2593-2595)acG>acA	p.T865T	CNTN4_uc003bpb.1_Silent_p.T536T|CNTN4_uc021wsg.1_Silent_p.T865T|CNTN4_uc003bpe.3_Silent_p.T537T|CNTN4_uc003bpf.3_Silent_p.T536T|CNTN4_uc003bpg.3_Silent_p.T121T	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	865	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAAAATCACGAACTTAAAAG	0.393000														28			5		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76261002	76261002	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76261002C>T	uc001oxl.3	+	20	3924	c.3781C>T	c.(3781-3783)Cct>Tct	p.P1261S	C11orf30_uc001oxm.3_Missense_Mutation_p.P1163S|C11orf30_uc010rsb.2_Missense_Mutation_p.P1276S|C11orf30_uc010rsc.2_Missense_Mutation_p.P1262S|C11orf30_uc001oxn.3_Missense_Mutation_p.P1262S|C11orf30_uc010rsd.2_Missense_Mutation_p.P1170S|C11orf30_uc010rse.2_Missense_Mutation_p.P508S|C11orf30_uc001oxp.3_Missense_Mutation_p.P194S	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1261					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAGGCTATTCCTCAGTATGC	0.413000														77			7		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12639390	12639390	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12639390C>T	uc001auc.3	-	2	857	c.390G>A	c.(388-390)aaG>aaA	p.K130K	DHRS3_uc001aub.3_Silent_p.K45K|DHRS3_uc009vnm.3_Silent_p.K130K	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	130					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding	p.G129E(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCATTAGGCTCTTCCCATGGA	0.632000														61			14		0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394320	39394320	+	Missense_Mutation	SNP	C	T	T	rs35424651	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39394320C>T	uc002hwh.4	+	0	51	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	Homo sapiens keratin associated protein 9-8 (KRTAP9-8), mRNA.	6						keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACTGTTGTTCCCCTTGCTGT	0.572000														84			5		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945291	4945291	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4945291C>T	uc010qyr.2	-	0	279	c.279G>A	c.(277-279)gaG>gaA	p.E93E		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGCCAATCTCTCTGGTAT	0.488000														44			6		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100595388	100595388	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:100595388C>T	uc003dun.3	-	6	819	c.734G>A	c.(733-735)aGg>aAg	p.R245K	ABI3BP_uc003duo.2_Missense_Mutation_p.R238K|ABI3BP_uc003dup.4_Missense_Mutation_p.R238K	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	245						extracellular space		p.R245T(3)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATTAGTTTCCTTGGGACATA	0.363000														52			3		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35122509	35122509	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:35122509C>T	uc002yta.1	+	5	676	c.408C>T	c.(406-408)tcC>tcT	p.S136S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Silent_p.S20S|ITSN1_uc002ysy.3_Silent_p.S136S|ITSN1_uc002ysx.3_Intron|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Silent_p.S136S|ITSN1_uc010gmg.3_Intron|ITSN1_uc010gmh.3_Intron|ITSN1_uc002ysw.3_Silent_p.S136S|ITSN1_uc010gmi.3_Intron|ITSN1_uc002ytb.1_Silent_p.S136S|ITSN1_uc002ytc.1_Silent_p.S136S|ITSN1_uc010gmk.3_Intron|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.S136S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Silent_p.S70S|ITSN1_uc021wip.1_Silent_p.S30S	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	136					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAATGGGATCCATTCCAGTTG	0.522000														43			3		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24394468	24394468	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:24394468C>T	uc001bin.4	-	26	3510	c.3347G>A	c.(3346-3348)aGa>aAa	p.R1116K	MYOM3_uc001bil.4_5'Flank|MYOM3_uc001bim.4_Missense_Mutation_p.R773K|MYOM3_uc001bio.3_Missense_Mutation_p.R1116K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1116										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCCTGTTTTCTCTTCCAGTC	0.532000														261			64		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904292	60904292	+	Silent	SNP	G	A	A	rs17812939		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60904292G>A	uc002ycq.3	-	32	4204	c.4137C>T	c.(4135-4137)gtC>gtT	p.V1379V	LAMA5_uc021wfw.1_Silent_p.V1379V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1379	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTTCTCAGGGACCACGAGTA	0.632000														44			14		0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162345159	162345159	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:162345159G>A	uc001gbx.2	-	1	202	c.138C>T	c.(136-138)tcC>tcT	p.S46S		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	46										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GAGCTGGGCTGGATGCCTCAG	0.542000														81			15		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45393034	45393034	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:45393034G>A	uc001zun.3	-	22	3127	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	DUOX2_uc010bea.3_Missense_Mutation_p.S975F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	975	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGGGGTGGGAGCTGAGAAA	0.597000														66			6		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531242	140531242	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140531242C>T	uc003lir.3	+	0	1404	c.1404C>T	c.(1402-1404)atC>atT	p.I468I		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.I468I(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCACATCGGCAGCGTCA	0.637000														160			14		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65475998	65475998	+	Silent	SNP	C	T	T	rs143166067	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:65475998C>T	uc011moz.2	+	16	3021	c.2884C>T	c.(2884-2886)Ctg>Ttg	p.L962L	HEPH_uc004dwn.3_Silent_p.L911L|HEPH_uc004dwo.3_Silent_p.L641L|HEPH_uc010nkr.3_Silent_p.L719L|HEPH_uc011mpa.2_Silent_p.L911L|HEPH_uc010nks.3_Silent_p.L200L	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	908	Plastocyanin-like 6.				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						AAAGGGCATCCTGGAGCCCCA	0.483000														33			13		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720494	10720494	+	Missense_Mutation	SNP	C	T	T	rs150116767		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:10720494C>T	uc001aro.3	-	5	925	c.605G>A	c.(604-606)aGg>aAg	p.R202K	CASZ1_uc001arp.1_Missense_Mutation_p.R202K|CASZ1_uc009vmx.2_Missense_Mutation_p.R226K|CASZ1_uc001arq.1_Missense_Mutation_p.R61K	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	202					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)		GCTGATCTTCCTGGCCAGCTC	0.657000														35			11		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767606	31767606	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31767606G>A	uc002nsy.4	-	1	3158	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	1031					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTCGGGGGAGGACGTCACCA	0.493000														40			7		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956442	128956442	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:128956442G>A	uc003kvb.1	+	8	1592	c.1592G>A	c.(1591-1593)aGa>aAa	p.R531K	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.	531	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)		GATTTGGAAAGATTTCTCAGG	0.398000														149			16		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427918	197427918	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:197427918G>A	uc003fyc.2	-	6	1010	c.827C>T	c.(826-828)cCc>cTc	p.P276L	KIAA0226_uc003fyd.3_Missense_Mutation_p.P216L|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.3_Missense_Mutation_p.P109L|KIAA0226_uc003fyg.3_Missense_Mutation_p.P269L	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	276	Ser-rich.				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)		TGAAACTGGGGGGGCTTGGAT	0.552000														82			14		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45960796	45960796	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:45960796C>T	uc003bgi.1	+	14	1877	c.1730C>T	c.(1729-1731)cCa>cTa	p.P577L	FBLN1_uc003bgj.1_Intron	NM_006485	NP_006476	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant B, mRNA.	0	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGAACACCCCAGCGGGATCA	0.537000														38			3		0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17814265	17814265	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:17814265C>T	uc022asj.1	+	9	1764	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	PCM1_uc003wyi.4_Missense_Mutation_p.S542F|PCM1_uc011kyh.2_Missense_Mutation_p.S542F|PCM1_uc003wyj.4_Missense_Mutation_p.S542F|PCM1_uc010lta.1_Missense_Mutation_p.S581F	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	542					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CATGAAAATTCCGAGCCTGTT	0.358000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									11			3		0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29474962	29474962	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:29474962G>A	uc001bro.3	-	5	1818	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	SRSF4_uc010ofy.2_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	482	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCGGGAGGGCGATCTGGAAGC	0.493000														78			12		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51795209	51795209	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51795209G>A	uc010ufy.2	-	16	3011	c.2786C>T	c.(2785-2787)tCc>tTc	p.S929F	DMXL2_uc002abf.3_Missense_Mutation_p.S929F|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	929						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)		ACTCTCAGAGGAAGCCCCTTC	0.358000														63			8		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135017	128135017	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128135017C>T	uc011ebt.2	-	3	918	c.769G>A	c.(769-771)Gat>Aat	p.D257N	THEMIS_uc010kfa.3_Missense_Mutation_p.D160N|THEMIS_uc021zfa.1_Missense_Mutation_p.D257N|THEMIS_uc010kfb.3_Missense_Mutation_p.D222N	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	257	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGTAAGAATCAGTGATGTCT	0.353000														124			17		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763644	160763644	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:160763644G>A	uc003lys.1	-	6	892	c.674C>T	c.(673-675)tCc>tTc	p.S225F	GABRB2_uc011deh.1_Missense_Mutation_p.S64F|GABRB2_uc003lyr.1_Missense_Mutation_p.S225F|GABRB2_uc003lyt.1_Missense_Mutation_p.S225F|GABRB2_uc021yhg.1_Missense_Mutation_p.S162F	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	225					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)	CAAACCTGTGGAAAAAACAAC	0.373000														32			10		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131119	147131119	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:147131119G>A	uc001epr.2	-	3	979	c.515C>T	c.(514-516)tCc>tTc	p.S172F	ACP6_uc009wjj.1_Missense_Mutation_p.S129F	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	172					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ACAACGGGTGGACTCCAGATT	0.408000														113			14		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032466	21032466	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21032466C>T	uc010sil.2	+	8	1297	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	SLCO1B3_uc001rek.3_Missense_Mutation_p.S411L|SLCO1B3_uc001rel.3_Missense_Mutation_p.S411L|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	411					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCCAAATTTTCATTTCTTACT	0.358000														25			5		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56410191	56410191	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56410191C>T	uc010ygg.2	-	9	2927	c.2902G>A	c.(2902-2904)Gga>Aga	p.G968R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	968							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)		AGCTTCACTCCATCATCCTGA	0.458000														91			9		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490295	42490295	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42490295C>T	uc002osh.3	-	4	598	c.444G>A	c.(442-444)atG>atA	p.M148I	ATP1A3_uc010xwf.2_Missense_Mutation_p.M159I|ATP1A3_uc010xwg.2_Missense_Mutation_p.M118I|ATP1A3_uc002osg.3_Missense_Mutation_p.M148I|ATP1A3_uc010xwh.2_Missense_Mutation_p.M161I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	148					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGAAGGACTCCATGATCTTGG	0.622000														74			12		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539804	142539804	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:142539804C>T	uc003evd.3	-	7	1340	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	345	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.G345E(1)|p.E344K(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCCAAATTTCCCTCTTTGTAG	0.502000														27			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499245	179499245	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179499245C>T	uc021vsy.1	-	178	34784	c.34559G>A	c.(34558-34560)gGa>gAa	p.G11520E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5215E|TTN_uc021vta.1_Missense_Mutation_p.G5148E|TTN_uc021vtb.1_Missense_Mutation_p.G5023E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12447	Glu-rich.|Pro-rich.						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)			TATATCAGGTCCTTTGGACCA	0.413000														78			4		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56138689	56138689	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:56138689G>A	uc002xyn.4	+	5	1030	c.867G>A	c.(865-867)ggG>ggA	p.G289G	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	289					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.G289W(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCGCCTGCGGGAAGACCAACC	0.547000														96			12		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890699	30890699	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30890699C>T	uc011dmz.2	+	22	2302	c.2221C>T	c.(2221-2223)Cct>Tct	p.P741S	VARS2_uc003nsc.2_Missense_Mutation_p.P711S|VARS2_uc011dmx.2_Missense_Mutation_p.P711S|VARS2_uc011dmy.2_Missense_Mutation_p.P571S|VARS2_uc011dna.2_Missense_Mutation_p.P709S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.P149S|VARS2_uc010jsg.2_Missense_Mutation_p.P83S|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	711					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCACGGGATCCCTGAGTGTGG	0.602000														111			12		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119054068	119054068	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:119054068C>T	uc001pvu.3	+	9	3063	c.2848C>T	c.(2848-2850)Cct>Tct	p.P950S	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Missense_Mutation_p.P950S|NLRX1_uc001pvx.3_Missense_Mutation_p.P950S|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	950	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACCCTTAATCCTTGGCGCAA	0.642000														62			8		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67669921	67669921	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:67669921C>T	uc001xja.2	+	3	560	c.270C>T	c.(268-270)gcC>gcT	p.A90A	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	90										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		TGCTACTGGCCCATCTGACAC	0.488000														23			5		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505554	157505554	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:157505554C>T	uc003qqp.3	+	11	3496	c.3496C>T	c.(3496-3498)Cag>Tag	p.Q1166*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1179*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Q1219*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1166					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCCAAGCTCCAGCCGCCATC	0.617000														37			8		0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36421162	36421162	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:36421162G>A	uc010gmu.3	-	1	179	c.35C>T	c.(34-36)tCg>tTg	p.S12L	RUNX1_uc002yut.1_Non-coding_Transcript|RUNX1_uc010gmv.3_Missense_Mutation_p.S12L|RUNX1_uc002yuj.4_5'UTR|RUNX1_uc002yuk.4_Missense_Mutation_p.S12L|RUNX1_uc002yum.1_5'UTR|RUNX1_uc010gmw.1_Missense_Mutation_p.S12L	NM_001754	NP_001745	Q01196	RUNX1_HUMAN	Homo sapiens runt-related transcription factor 1 (RUNX1), transcript variant 1, mRNA.	0					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|calcium ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CTGTGGGTACGAAGGAAATGA	0.458000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""									111			10		0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442585	116442585	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:116442585C>T	uc003pwm.3	-	2	790	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	232	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCTTTGATGCCTGGCTGTCCT	0.587000														58			7		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53203178	53203178	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53203178G>A	uc001saz.3	-	3	1045	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	275						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCATCATAGAGGACCTTCAGG	0.537000														68			5		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74834197	74834197	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74834197C>T	uc002smy.3	-	3	697	c.580G>A	c.(580-582)Gat>Aat	p.D194N	C2orf65_uc010ysa.2_Missense_Mutation_p.D194N|C2orf65_uc002smz.2_Missense_Mutation_p.D194N	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	194					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						TTGCTGGTATCCTCAACAGGA	0.423000														64			7		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233187	21233187	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21233187T>G	uc002red.3	-	25	6681	c.6553A>C	c.(6553-6555)Att>Ctt	p.I2185L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2185					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)	CTATCTTTAATATACTGATCA	0.244000														8			3		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353263	42353263	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42353263C>T	uc010xwe.2	+	5	777	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	DMRTC2_uc002orr.1_Missense_Mutation_p.H109Y|DMRTC2_uc002ors.3_Missense_Mutation_p.H232Y	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	232	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						CCCAGGATCTCACCCAGTACT	0.562000														168			18		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398791	196398791	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196398791G>A	uc001gtd.1	-	8	795	c.735C>T	c.(733-735)ttC>ttT	p.F245F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.F245F|KCNT2_uc001gtf.1_Silent_p.F245F|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Silent_p.F245F|KCNT2_uc009wyv.1_Silent_p.F220F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	245						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						TGACATCCCCGAAGCCCACAG	0.423000														37			8		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151161509	151161509	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151161509G>A	uc011bod.2	-	4	5226	c.5226C>T	c.(5224-5226)tcC>tcT	p.S1742S	IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1742					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGGAGGATAGGAAACCACAG	0.522000														61			15		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100103676	100103676	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:100103676G>A	uc004egj.3	-	11	1717	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	NOX1_uc004egl.4_Missense_Mutation_p.S455F|NOX1_uc010nne.3_Missense_Mutation_p.S467F	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	504	Interaction with NOXO1.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCTCCCAAAGGAGGTTTTCTG	0.428000														78			27		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135470257	135470257	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:135470257A>G	uc004cbq.1	-	19	2704	c.2552T>C	c.(2551-2553)gTt>gCt	p.V851A	DDX31_uc010mzu.1_Missense_Mutation_p.V778A	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	851						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAGATTTTAAACTTTCTGGGA	0.498000														131			15		0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158494544	158494544	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:158494544A>G	uc011kwe.1	-	1	192	c.47T>C	c.(46-48)gTt>gCt	p.V16A	NCAPG2_uc003wnx.1_Missense_Mutation_p.V16A|NCAPG2_uc003wnv.1_Missense_Mutation_p.V16A|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	16					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAACTCTCCAACCAGCTCCTT	0.343000														86			6		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103237429	103237429	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:103237429T>A	uc001tjq.1	-	10	1667	c.1194A>T	c.(1192-1194)aaA>aaT	p.K398N		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	398					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTCACCTTACTTTCTCCTTGG	0.542000														36			5		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389122	48389122	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48389122C>T	uc001jez.3	-	0	1870	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	586	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)	AGGCTGCCTTCGGGTGTGTCC	0.672000														69			17		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820995	43820995	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43820995C>T	uc001zrt.3	+	3	7791	c.7324C>T	c.(7324-7326)Cgg>Tgg	p.R2442W		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2442						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACTGAGCCTCGGCCCCATCG	0.647000														47			12		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121687675	121687675	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:121687675G>A	uc001tzv.3	-	12	2067	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	CAMKK2_uc001tzt.3_Missense_Mutation_p.P413L|CAMKK2_uc001tzu.3_Missense_Mutation_p.P413L|CAMKK2_uc001tzw.3_Missense_Mutation_p.P413L|CAMKK2_uc001tzx.3_Missense_Mutation_p.P413L|CAMKK2_uc001tzy.3_Missense_Mutation_p.P413L|CAMKK2_uc001tzz.1_Missense_Mutation_p.P200L|CAMKK2_uc001uaa.1_Missense_Mutation_p.P413L|CAMKK2_uc001uab.3_Missense_Mutation_p.P413L|CAMKK2_uc001uac.3_Missense_Mutation_p.P413L	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	413	Protein kinase.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCTATGTCGGGCCTGGGGAT	0.597000														80			13		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455231	84455231	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:84455231C>T	uc001vlk.3	-	0	1298	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	138						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAATTAAAATCAGCCTGGAGA	0.463000														66			27		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523813	55523813	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55523813C>T	uc010spe.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F87F(2)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTATTTTTTCCTAGGCAATC	0.383000														144			12		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463987	104463987	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:104463987G>A	uc004ema.3	-	3	995	c.883C>T	c.(883-885)Cct>Tct	p.P295S	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Silent_p.S297S	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	297						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TATGAGGCAGGGAGCTGGACA	0.532000														28			12		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865198	118865198	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:118865198G>A	uc003ecb.1	+	0	202	c.162G>A	c.(160-162)caG>caA	p.Q54Q	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Silent_p.Q54Q	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	54										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TAGCTGACCAGACTGCCCTAA	0.527000														37			3		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887712	9887712	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:9887712C>T	uc002koi.4	+	1	1685	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	TXNDC2_uc002koh.4_Silent_p.I345I|TXNDC2_uc021ugx.1_Silent_p.I345I	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	412	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						AAGAAACCATCCAGCCCAAGG	0.547000														74			9		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16202912	16202912	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16202912A>G	uc001axk.1	+	2	824	c.620A>G	c.(619-621)gAg>gGg	p.E207G	SPEN_uc010obp.1_Missense_Mutation_p.E166G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	207	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGCTCGCGAGCAGTTTACA	0.532000														68			16		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14647077	14647077	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:14647077C>T	uc003ssz.3	-	15	1605	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	DGKB_uc011jxt.2_Missense_Mutation_p.G454E|DGKB_uc003sta.3_Missense_Mutation_p.G473E|DGKB_uc011jxu.2_Missense_Mutation_p.G472E	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	473	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGTCCATTTCCAGAAAGACT	0.294000														34			12		0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102522	87102522	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:87102522G>A	uc010osh.2	+	3		c.506G>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTCCGGTGGGGAGTATTTGAT	0.368000														93			21		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65412046	65412046	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:65412046C>T	uc011moz.2	+	6	1437	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	HEPH_uc004dwn.3_Nonsense_Mutation_p.R383*|HEPH_uc004dwo.3_Nonsense_Mutation_p.R113*|HEPH_uc010nkr.3_Nonsense_Mutation_p.R383*|HEPH_uc011mpa.2_Nonsense_Mutation_p.R383*	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	380	Plastocyanin-like 3.				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						AGGCAAAGTTCGACAGTACTT	0.522000														25			11		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6589218	6589218	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:6589218G>A	uc003zkc.3	-	11	1750	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	519					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GATGGGTGAGGAACGGGCTGG	0.498000														53			7		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788363	39788363	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:39788363C>T	uc021olt.1	+	30	4180	c.4128C>T	c.(4126-4128)tcC>tcT	p.S1376S	MACF1_uc021ols.1_Silent_p.S1376S|MACF1_uc001cdc.2_Silent_p.S1376S|MACF1_uc001cda.1_Silent_p.S1284S|MACF1_uc009vvq.1_Silent_p.S433S|MACF1_uc001cdb.1_Silent_p.S463S	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1376					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCATGCTTTCCTCTTCAGATG	0.478000														67			21		0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29795930	29795930	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29795930C>T	uc003nnw.2	+	2	358	c.180C>T	c.(178-180)ttC>ttT	p.F60F	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Silent_p.F32F|HLA-G_uc003raj.3_Silent_p.F65F|HLA-G_uc003nnz.3_Silent_p.F60F|HLA-G_uc010jrn.2_Silent_p.F60F|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Silent_p.F60F|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	60	Alpha-1.				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						TCGTGCGGTTCGACAGCGACT	0.687000														28			6		0	0	1	0	0
TNP1	7141	broad.mit.edu	37	2	217724400	217724400	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:217724400G>A	uc002vgk.3	-	1	183	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_003284	NP_003275	P09430	STP1_HUMAN	Homo sapiens transition protein 1 (during histone to protamine replacement) (TNP1), mRNA.	53					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	p.R52C(1)		large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACAAGTGGGAGCGGTAATT	0.522000														138			9		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983291	140983291	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140983291G>A	uc011mwp.2	+	5	1069	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	MAGEC3_uc004fbs.3_Intron|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	357	MAGE 1.							p.Q356K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGACAGGAAGATGGCCG	0.592000														24			8		0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96412327	96412327	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:96412327C>T	uc001vmq.3	+	5	697	c.580C>T	c.(580-582)Cga>Tga	p.R194*		NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	194					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	p.R194Q(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACGGGAACTTCGAGCTGAATG	0.353000														33			5		0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158896490	158896490	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:158896490G>A	uc003woh.3	-	3	501	c.315C>T	c.(313-315)ttC>ttT	p.F105F	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	105					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCATCGACGAAATCTGGGA	0.498000														71			14		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825152	46825152	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46825152C>T	uc002peh.3	+	9	1295	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	HIF3A_uc002peg.4_Silent_p.L422L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.L366L|HIF3A_uc002pej.2_Silent_p.L353L|HIF3A_uc010xxy.2_Silent_p.L353L|HIF3A_uc002pel.3_Silent_p.L420L|HIF3A_uc010xxz.2_Silent_p.L371L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGGACCCATCCTGGATGGGGC	0.672000														68			16		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088013	86088013	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:86088013G>A	uc021rxf.1	+	0	155	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	FLRT2_uc001xvr.3_Missense_Mutation_p.R52Q|FLRT2_uc010atd.3_Missense_Mutation_p.R52Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	52	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTAATGAGCGAAGCTTGACC	0.517000														96			11		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070128	73070128	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73070128G>A	uc004ebm.1	-	0		c.2461C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AAAGGTTAAGGAATTTGTAAT	0.264000														8			3		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537115	5537115	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5537115G>A	uc001maz.4	-	0	842	c.557C>T	c.(556-558)tCc>tTc	p.S186F	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	186										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTCCATGTTGGACAGAAGCCG	0.483000														97			8		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80681643	80681643	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:80681643C>T	uc003khl.4	-	1	185	c.130G>A	c.(130-132)Gag>Aag	p.E44K	RNU5E-1_uc011cto.1_Intron|ACOT12_uc003khm.3_Missense_Mutation_p.E44K	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	44	Acyl coenzyme A hydrolase 1.				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)		GCATGTTTCTCAGCTTCAAAA	0.393000														27			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064483	9064483	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9064483G>A	uc002mkp.3	-	2	23167	c.22963C>T	c.(22963-22965)Cag>Tag	p.Q7655*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7657	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						GGAAATCCCTGAATTACTATA	0.507000														39			12		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97956801	97956801	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:97956801G>A	uc001kls.4	-	15	1292	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	BLNK_uc001kme.4_Missense_Mutation_p.R267W|BLNK_uc001klt.4_Missense_Mutation_p.R263W|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Intron|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Missense_Mutation_p.R349W|BLNK_uc001kly.4_Intron|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Intron|BLNK_uc001kmb.4_Missense_Mutation_p.R168W|BLNK_uc001kmc.4_Intron|BLNK_uc001kmd.4_Missense_Mutation_p.R290W|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	372	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GAGCTTTTCCGAATAAGAAAT	0.279000														41			10		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038336	43038336	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43038336G>A	uc001zqo.2	-	14	3831	c.3392C>T	c.(3391-3393)cCa>cTa	p.P1131L	TTBK2_uc010bcy.2_Missense_Mutation_p.P1062L|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1131					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGGAGATCCTGGACTCTTGCA	0.537000														79			20		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263529	1263529	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1263529G>A	uc001lta.3	+	30	5478	c.5419G>A	c.(5419-5421)Gac>Aac	p.D1807N		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1807	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCAGGCGGGGACATGGAAAC	0.577000														75			5		0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110957715	110957715	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:110957715G>A	uc001trf.4	+	8	1022	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	RAD9B_uc001trg.4_Missense_Mutation_p.R295Q|RAD9B_uc010sya.2_Missense_Mutation_p.R226Q|RAD9B_uc001tre.4_Missense_Mutation_p.R223Q|RAD9B_uc001trd.4_Missense_Mutation_p.R137Q	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	Homo sapiens RAD9 homolog B (S. pombe) (RAD9B), mRNA.	292					DNA repair|DNA replication|cell cycle checkpoint	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCACAGAAACGAAAAAGGTAA	0.338000														11			4		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64048668	64048668	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:64048668G>A	uc002amp.3	-	4	1649	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.P501S	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	501					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	p.P501P(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATAAGCTTGGGATATTTCTGT	0.393000														98			4		0	0	1	0	0
ASB7	140460	broad.mit.edu	37	15	101188569	101188569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:101188569C>T	uc002bwk.3	+	5	1628	c.859C>T	c.(859-861)Cga>Tga	p.R287*		NM_198243	NP_937886	Q9H672	ASB7_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 7 (ASB7), transcript variant 2, mRNA.	287	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AATTAAAATTCGACAATGTAT	0.358000														38			4		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202197	6202197	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:6202197G>A	uc001amb.2	-	14	2538	c.2427C>T	c.(2425-2427)ttC>ttT	p.F809F	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	809	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTTCATACGGAATACCTTCT	0.587000														165			32		0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368751	37368751	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:37368751A>G	uc002oex.3	+	2	1400	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	ZNF345_uc021utn.1_Missense_Mutation_p.K340R|ZNF345_uc002oey.4_Missense_Mutation_p.K340R|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.K340R|ZNF345_uc021utp.1_Missense_Mutation_p.K340R|ZNF345_uc021utq.1_Missense_Mutation_p.K340R	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	340					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGAGAGAAACCTTATGAA	0.393000														57			11		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15718545	15718545	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:15718545G>A	uc001rcv.2	+	17	3200	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	PTPRO_uc001rcw.2_Silent_p.K882K|PTPRO_uc001rcx.2_Silent_p.K99K|PTPRO_uc001rcy.2_Silent_p.K99K|PTPRO_uc001rcz.2_Silent_p.K71K|PTPRO_uc001rda.2_Silent_p.K71K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	910						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATGGTTTAAAGAAGAGGAAAC	0.254000														32			6		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745632	33745632	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:33745632G>A	uc002rox.3	+	6	876	c.249G>A	c.(247-249)ctG>ctA	p.L83L	RASGRP3_uc010ync.2_Silent_p.L83L|RASGRP3_uc002roy.3_Silent_p.L83L	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	83	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ACTGGATTCTGAAGTTTCCTG	0.388000														187			40		0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14146769	14146769	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:14146769C>T	uc022bdo.1	-	5	1379	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	NFIB_uc003zld.3_Missense_Mutation_p.E30K|NFIB_uc003zlf.3_Missense_Mutation_p.E282K|NFIB_uc003zle.3_Missense_Mutation_p.E282K|NFIB_uc022bdp.1_Missense_Mutation_p.E308K|NFIB_uc011lmo.2_Missense_Mutation_p.E282K	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	282					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGACTTGGTTCCATATTTTCA	0.388000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""									59			11		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907914	3907914	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3907914G>A	uc010xhz.2	+	5	1042	c.559G>A	c.(559-561)Gga>Aga	p.G187R	ATCAY_uc002lyy.4_Missense_Mutation_p.G181R|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	181	CRAL-TRIO.				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)		GGTCACCCACGGAGGTGAGAC	0.657000														20			3		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82434986	82434986	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82434986G>A	uc001dit.4	+	13	2778	c.2597G>A	c.(2596-2598)cGa>cAa	p.R866Q	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R866Q|LPHN2_uc001div.3_Missense_Mutation_p.R866Q|LPHN2_uc009wcd.3_Missense_Mutation_p.R866Q|LPHN2_uc001diw.3_Missense_Mutation_p.R450Q|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	879					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R866Q(2)|p.R879Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGAGTGACCGAAATACTATT	0.408000														87			16		0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68009769	68009769	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:68009769T>C	uc002evc.4	-	9	1535	c.1441A>G	c.(1441-1443)Acc>Gcc	p.T481A	DPEP3_uc010cex.3_Missense_Mutation_p.T480A	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	456					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ACCCGATTGGTTGGCTGCTTG	0.587000														24			6		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279178	105279178	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105279178T>A	uc010npd.3	-	1	1056	c.821A>T	c.(820-822)gAg>gTg	p.E274V	SERPINA7_uc004eme.2_Missense_Mutation_p.E274V|SERPINA7_uc010npe.2_Missense_Mutation_p.E274V	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	274					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CATCTGTCCCTCCTTGGGAAG	0.458000														99			38		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137018414	137018414	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:137018414G>A	uc003qhc.3	-	4	1279	c.918C>T	c.(916-918)atC>atT	p.I306I	MAP3K5_uc011edk.1_Silent_p.I151I|MAP3K5_uc010kgw.1_Silent_p.I306I	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	306					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAAGACTTCGATATTATCTA	0.378000														60			11		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531640	140531640	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140531640C>T	uc003lir.3	+	0	1802	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	601	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTGGCTGTCGTACCAGCTG	0.721000														48			6		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995950	140995950	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140995950C>T	uc004fbt.3	+	3	3084	c.2760C>T	c.(2758-2760)ctC>ctT	p.L920L	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.L579L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	920	MAGE.						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)					GGTTTCTTCTCCTCAAATATC	0.488000										HNSCC(15;0.026)				150			47		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209309566	209309566	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:209309566C>T	uc010zjb.2	+	6	1126	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PTH2R_uc002vdb.3_Silent_p.F269F	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	269						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTGGCTTTCTTTTCGGACA	0.403000														118			26		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63024834	63024834	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:63024834G>A	uc001daq.3	-	19	2291	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	DOCK7_uc001dan.3_Missense_Mutation_p.P645S|DOCK7_uc001dao.3_Missense_Mutation_p.P645S|DOCK7_uc001dap.3_Missense_Mutation_p.P753S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	753	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTCGGACTGGGAACAGGTGT	0.383000														39			15		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424543	56424543	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56424543C>T	uc010ygg.2	-	4	665	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	214							ATP binding	p.E213Q(1)		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)		CGCTGCAGTTCCTCATGTTCG	0.512000														122			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634791	179634791	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179634791C>T	uc021vsy.1	-	35	8862	c.8637G>A	c.(8635-8637)gtG>gtA	p.V2879V	TTN_uc021vsz.1_Silent_p.V2833V|TTN_uc021vta.1_Silent_p.V2833V|TTN_uc021vtb.1_Silent_p.V2833V|TTN_uc002unb.2_Silent_p.V2879V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2879							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)			ACTTACTCTCCACAAACAGTT	0.438000														114			15		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902316	23902316	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:23902316G>A	uc001wjx.3	-	3	428	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	108	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGCCGTAGCGATCCTTGAGG	0.572000														49			6		0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951839	46951839	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:46951839G>A	uc002zhl.2	-	2	566	c.413C>T	c.(412-414)tCc>tTc	p.S138F	SLC19A1_uc010gpy.1_Missense_Mutation_p.S138F|SLC19A1_uc011aft.2_Missense_Mutation_p.S98F|SLC19A1_uc002zhm.2_Missense_Mutation_p.S138F|SLC19A1_uc010gpz.2_Missense_Mutation_p.S17F	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	138					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GAAGATGTAGGAGGAATAGGC	0.672000														10			3		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280897	105280897	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105280897G>A	uc010npd.3	-	0	388	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SERPINA7_uc004eme.2_Silent_p.F51F|SERPINA7_uc010npe.2_Silent_p.F51F	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	51					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.F51L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGTACAGATTGAATGCAAAGT	0.468000														95			23		0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170876212	170876212	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:170876212G>A	uc003mbk.3	+	3	849	c.312G>A	c.(310-312)acG>acA	p.T104T		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	104					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAAGGAGACGGAATTCTACC	0.537000														56			12		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901819	52901819	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:52901819C>T	uc002lga.3	-	16	1812	c.1752G>A	c.(1750-1752)gcG>gcA	p.A584A	TCF4_uc021ukg.1_Silent_p.A322A|TCF4_uc021ukh.1_Silent_p.A322A|TCF4_uc002lfw.4_Silent_p.A322A|TCF4_uc010xdu.1_Silent_p.A352A|TCF4_uc010xdv.1_Silent_p.A352A|TCF4_uc021uki.1_Silent_p.A411A|TCF4_uc002lfx.2_Silent_p.A411A|TCF4_uc010xdw.1_Silent_p.A352A|TCF4_uc002lfy.2_Silent_p.A440A|TCF4_uc010xdx.1_Silent_p.A458A|TCF4_uc021ukj.1_Silent_p.A422A|TCF4_uc021ukk.1_Silent_p.A422A|TCF4_uc021ukl.1_Silent_p.A479A|TCF4_uc002lfz.2_Silent_p.A482A|TCF4_uc010dph.1_Silent_p.A482A|TCF4_uc010dpi.3_Silent_p.A488A|TCF4_uc010xdy.1_Silent_p.A458A	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	482	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAGGGGAAGTCGCAGACTGGA	0.567000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			14		0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77752666	77752666	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:77752666C>T	uc001dhn.3	+	1	438	c.101C>T	c.(100-102)cCa>cTa	p.P34L	AK5_uc001dho.3_Missense_Mutation_p.P8L|AK5_uc001dhm.2_Missense_Mutation_p.P34L	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	34					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCCGAAGATCCAGTAGAATAC	0.348000														52			15		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134621	128134621	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128134621A>T	uc011ebt.2	-	3	1314	c.1165T>A	c.(1165-1167)Ttt>Att	p.F389I	THEMIS_uc010kfa.3_Missense_Mutation_p.F292I|THEMIS_uc021zfa.1_Missense_Mutation_p.F389I|THEMIS_uc010kfb.3_Missense_Mutation_p.F354I	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	389	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.Q388L(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGCACCAGAAACTGGTCCCCA	0.468000														68			10		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480669	57480669	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57480669G>A	uc009vzx.1	-	11	1651	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	DAB1_uc001cyt.1_Missense_Mutation_p.S442F|DAB1_uc001cyq.1_Missense_Mutation_p.S442F|DAB1_uc001cyr.1_Missense_Mutation_p.S358F|DAB1_uc009vzw.1_Missense_Mutation_p.S426F|DAB1_uc001cys.1_Missense_Mutation_p.S444F	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	477					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						GAAGTAACTGGAGAAGGCCTC	0.547000														75			9		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58155425	58155425	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:58155425C>T	uc003djj.2	+	44	7691	c.7526C>T	c.(7525-7527)tCc>tTc	p.S2509F	FLNB_uc010hne.2_Missense_Mutation_p.S2540F|FLNB_uc003djk.2_Missense_Mutation_p.S2498F|FLNB_uc010hnf.2_Missense_Mutation_p.S2485F|FLNB_uc003djl.2_Missense_Mutation_p.S2329F|FLNB_uc003djm.2_Missense_Mutation_p.S2316F|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2509	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGGCATCCTCGGACGCC	0.582000														57			12		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968190	35968190	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35968190G>A	uc003jjv.2	-	2	435	c.242C>T	c.(241-243)tCa>tTa	p.S81L	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.S81L|UGT3A1_uc011cor.2_Missense_Mutation_p.S47L|UGT3A1_uc003jjy.2_Missense_Mutation_p.S27L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	81						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTTCAGGTGAAAACCACCT	0.318000														17			3		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259249	43259249	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43259249C>T	uc002ouo.2	-	3	977	c.879G>A	c.(877-879)agG>agA	p.R293R	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.R293R|PSG8_uc010ein.3_Silent_p.R171R|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	293	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GAATGAGGATCCTGTTTTCAA	0.488000														163			23		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95093536	95093536	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:95093536C>T	uc001kin.3	-	41	4821	c.4698G>A	c.(4696-4698)caG>caA	p.Q1566Q	MYOF_uc001kio.3_Silent_p.Q1553Q|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1566	C2 5.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTCCTGGGGCTGGAGCTCTA	0.507000														34			5		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101168367	101168367	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:101168367A>C	uc004ays.3	-	7	1753	c.1293T>G	c.(1291-1293)ttT>ttG	p.F431L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	431					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCCTACCTTGAAATTGAGTAA	0.313000														38			9		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14851568	14851568	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:14851568C>T	uc003zlm.3	-	6	1682	c.866G>A	c.(865-867)gGa>gAa	p.G289E	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	289					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATTCGGAATTCCAGCTCTGAT	0.428000														77			11		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101740231	101740231	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:101740231C>T	uc001tia.1	+	37	4905	c.4749C>T	c.(4747-4749)atC>atT	p.I1583I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1583					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACCCATAGATCCACAGAAGAG	0.343000														42			5		0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108902601	108902601	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:108902601G>A	uc004eoi.2	-	15	2465	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ACSL4_uc004eoj.2_Nonsense_Mutation_p.R613*|ACSL4_uc004eok.2_Nonsense_Mutation_p.R613*	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	654					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R654*(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GCAGCTTCTCGAATTTCTTTC	0.383000														64			11		0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047354	156047354	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:156047354C>T	uc001fnd.4	-	1	574	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	192	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GAGATGATTTCCCGCCGGGCT	0.637000														18			3		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457559	124457559	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:124457559C>T	uc001lgn.3	-	2	730	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	233										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGTGTTTTTTCCCTCTGCCTC	0.363000														33			9		0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133712407	133712407	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:133712407C>T	uc001qgv.1	-	4	461	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	137					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TATTCGATCTCGCATGATGTC	0.498000														70			17		0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65288560	65288560	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:65288560G>A	uc003juk.2	+	2	324	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ERBB2IP_uc011cqx.2_Missense_Mutation_p.R5Q|ERBB2IP_uc003jui.2_Missense_Mutation_p.R5Q|ERBB2IP_uc003jul.2_Missense_Mutation_p.R5Q|ERBB2IP_uc011cqy.2_Missense_Mutation_p.R5Q|ERBB2IP_uc003juj.2_Missense_Mutation_p.R5Q|ERBB2IP_uc011cqz.2_Missense_Mutation_p.R5Q|ERBB2IP_uc010iwx.2_Missense_Mutation_p.R5Q	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	5					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACTACAAAACGAAGTTTGTTT	0.363000														70			4		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152213	100152213	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:100152213G>A	uc001kpc.3	-	9	1124	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	346							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCAGGAAGGTGATCTGCGGTG	0.542000														49			12		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43927045	43927045	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43927045G>A	uc002xnn.2	-	6	1378	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	MATN4_uc002xnp.2_Silent_p.F315F|MATN4_uc002xno.2_Silent_p.F356F|MATN4_uc010zwr.1_Silent_p.F345F|MATN4_uc002xnr.1_Silent_p.F397F	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	438	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)				GACCCAGAGGGAACTCGGTGC	0.657000														45			6		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4286286	4286286	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:4286286G>A	uc003zhx.1	-	1	853	c.140C>T	c.(139-141)tCg>tTg	p.S47L	GLIS3_uc003zic.1_Missense_Mutation_p.S47L|GLIS3_uc003zie.1_Missense_Mutation_p.S47L|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Missense_Mutation_p.S47L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	637	Ser-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		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)		AGTGGGACTCGATGTGCTGCC	0.607000														35			9		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324854	150324854	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150324854C>T	uc022apv.1	-	2	1522	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	GIMAP6_uc003whn.3_Missense_Mutation_p.E278K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	278							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)		TCCTCAGATTCCTTCTGGATC	0.572000														82			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639842	179639842	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179639842G>A	uc021vsy.1	-	28	6821	c.6596C>T	c.(6595-6597)tCa>tTa	p.S2199L	TTN_uc021vsz.1_Missense_Mutation_p.S2153L|TTN_uc021vta.1_Missense_Mutation_p.S2153L|TTN_uc021vtb.1_Missense_Mutation_p.S2153L|TTN_uc002unb.2_Missense_Mutation_p.S2199L|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2199	Ig-like 11.						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)			AAATGGTTCTGAAGTTTCACA	0.388000														58			4		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869882	151869882	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151869882G>A	uc022chf.1	+	0	572	c.572G>A	c.(571-573)gGt>gAt	p.G191D	MAGEA6_uc004ffq.1_Missense_Mutation_p.G191D|MAGEA6_uc004ffr.1_Missense_Mutation_p.G191D	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	191	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGCTGGGTGACAATCAG	0.557000														88			18		0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512954	68512954	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:68512954C>T	uc021ooq.1	-	0	27	c.27G>A	c.(25-27)aaG>aaA	p.K9K	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Silent_p.K9K	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	9					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTTCTGTTCCTTGGAGCCAA	0.582000														65			8		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509198	26509198	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:26509198C>T	uc003nif.4	+	6	1434	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	459	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCCGGCCCTTCTTTTGCCTAT	0.478000														72			10		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822451	19822451	+	Nonsense_Mutation	SNP	G	A	A	rs150668126		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19822451G>A	uc002nnk.1	-	3	1793	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R547*(4)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCAATCGAATTTGACTG	0.388000														69			8		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535205	71535205	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:71535205G>A	uc002atb.1	+	3	761	c.682G>A	c.(682-684)Gac>Aac	p.D228N	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	228	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTACCAAAGTGACAGTGGCCC	0.582000														65			8		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594501	123594501	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123594501G>A	uc003vle.3	+	2	1316	c.877G>A	c.(877-879)Gat>Aat	p.D293N	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.D293N|SPAM1_uc022aks.1_Missense_Mutation_p.D293N|SPAM1_uc003vlf.4_Missense_Mutation_p.D293N|SPAM1_uc010lku.3_Missense_Mutation_p.D293N	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	293					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	p.D293H(3)		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)	CAAAATACCTGATGCAAAAAG	0.413000														39			9		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160718047	160718047	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160718047C>T	uc001fwq.3	+	1	134	c.119C>T	c.(118-120)cCc>cTc	p.P40L	SLAMF7_uc010pjn.2_Intron|SLAMF7_uc001fws.3_Intron|SLAMF7_uc001fwr.3_Missense_Mutation_p.P40L|SLAMF7_uc010pjo.2_Missense_Mutation_p.P40L|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Missense_Mutation_p.P40L|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	40					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTGACTTTCCCCCTGAAGTCC	0.507000														52			6		0	0	1	0	0
CCDC121	79635	broad.mit.edu	37	2	27850155	27850155	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:27850155C>T	uc002rld.3	-	1	1113	c.998G>A	c.(997-999)aGa>aAa	p.R333K	ZNF512_uc010yly.1_Intron|CCDC121_uc002rle.3_Missense_Mutation_p.R171K|CCDC121_uc021vfe.1_Missense_Mutation_p.R171K|GPN1_uc010ezf.3_5'Flank|GPN1_uc010yma.2_5'Flank|GPN1_uc010ymb.2_5'Flank|GPN1_uc010ymd.2_5'Flank|GPN1_uc010ymc.2_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_001142683	NP_078860	Q6ZUS5	CC121_HUMAN	Homo sapiens coiled-coil domain containing 121 (CCDC121), transcript variant 2, mRNA.	171										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					ATTAAGCTCTCTTCTTTTTCT	0.478000														72			7		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353981	165353981	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:165353981G>A	uc002ucl.3	-	9	1665	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	GRB14_uc010zcv.2_Missense_Mutation_p.S288F	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	375					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.S375S(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGCTACCAGGGAATTCTCTGA	0.363000														52			6		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52546963	52546963	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52546963G>A	uc003dej.3	+	28	3221	c.3147G>A	c.(3145-3147)ccG>ccA	p.P1049P		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1049	FAS1 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGACGCTGCCGAACCTGGTCA	0.692000														24			3		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35914047	35914047	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:35914047G>A	uc002hoa.3	-	13	1861	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	SYNRG_uc010wde.2_Missense_Mutation_p.P515L|SYNRG_uc010wdf.2_Missense_Mutation_p.P515L|SYNRG_uc002hoc.3_Missense_Mutation_p.P514L|SYNRG_uc002hoe.3_Missense_Mutation_p.P515L|SYNRG_uc002hod.3_Missense_Mutation_p.P515L|SYNRG_uc010wdg.2_Missense_Mutation_p.P432L|SYNRG_uc002hob.3_Missense_Mutation_p.P593L|SYNRG_uc002hof.3_Missense_Mutation_p.P305L|SYNRG_uc010cvd.1_Missense_Mutation_p.P393L	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	593	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGGAAGGATGGTGGAAAAGT	0.408000														125			6		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378609	109378609	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:109378609C>T	uc002tem.4	+	18	2781	c.2655C>T	c.(2653-2655)tcC>tcT	p.S885S		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	885					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CATATAATTCCCAGTATCTTC	0.303000														83			7		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024544	147024544	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:147024544C>T	uc010jgo.1	-	4	1100	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E318K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E276K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E318K|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	318						Golgi apparatus		p.R317W(3)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCGGTTTCCCGCACACGT	0.493000														56			12		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480513	140480513	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140480513G>A	uc003lio.3	+	0	280	c.280G>A	c.(280-282)Gag>Aag	p.E94K	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	94	Cadherin 1.				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)			GGACCGGGAGGAGCTATGCGG	0.468000														84			13		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131285	130131285	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:130131285G>A	uc001qga.3	-	1	878	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	ZBTB44_uc001qgb.4_Missense_Mutation_p.P162S|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Missense_Mutation_p.P162S|ZBTB44_uc001qfz.3_Missense_Mutation_p.P162S	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GAGGACACGGGAGAAATGCTC	0.448000														40			6		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410273	45410273	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:45410273G>A	uc001rok.1	-	3	988	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	272						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ATGGAGAAGGGAAACCCAGAG	0.483000														83			9		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212832	26212832	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:26212832C>T	uc022buc.1	+	0	869	c.869C>T	c.(868-870)tCg>tTg	p.S290L	MAGEB6_uc004dbr.3_Missense_Mutation_p.S290L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	290	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCCTGATGTCGCTCCTGGTT	0.547000														70			35		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107841957	107841957	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107841957G>A	uc022ccg.1	+	24	2007	c.1805G>A	c.(1804-1806)aGa>aAa	p.R602K	COL4A5_uc004enz.1_Missense_Mutation_p.R602K|COL4A5_uc004eob.1_Missense_Mutation_p.R210K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	602	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGGTGAAAGAGGTCCCCCT	0.478000									Alport syndrome with Diffuse Leiomyomatosis					65			16		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130840207	130840207	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130840207A>T	uc001uik.3	+	11	1670	c.1399A>T	c.(1399-1401)Aaa>Taa	p.K467*	PIWIL1_uc001uij.2_Nonsense_Mutation_p.K467*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	467					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCAAGGTGGAAAAACAGTAAG	0.458000														81			9		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37903036	37903036	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37903036G>A	uc002hsr.3	+	14	1760	c.1485G>A	c.(1483-1485)atG>atA	p.M495I	GRB7_uc002hss.3_Missense_Mutation_p.M495I|GRB7_uc021twu.1_Missense_Mutation_p.M518I|GRB7_uc010cwc.3_Missense_Mutation_p.M495I|GRB7_uc002hst.3_3'UTR	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	495	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTTCAGCATGGATGATGGCC	0.647000														103			12		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303337	151303337	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151303337C>T	uc022cgz.1	-	0	756	c.756G>A	c.(754-756)atG>atA	p.M252I	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.M252I|MAGEA10_uc004ffm.2_Missense_Mutation_p.M252I|MAGEA10_uc004ffl.3_Missense_Mutation_p.M252I	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	252	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCCCCATCATATTCAGTG	0.522000														60			20		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444355	84444355	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84444355C>T	uc010chj.3	+	5	588	c.499C>T	c.(499-501)Cct>Tct	p.P167S	ATP2C2_uc002fhx.3_Missense_Mutation_p.P167S|ATP2C2_uc002fhy.3_Missense_Mutation_p.P184S|ATP2C2_uc002fhz.3_Intron	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	167					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAAGATGGTTCCTCCAGAATG	0.507000														59			4		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047521	73047521	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73047521G>A	uc004ebn.2	+	0		c.35482G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCAGAGAAAGGAGAGGTAGAC	0.418000														8			3		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652376	234652376	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234652376C>T	uc002vuz.3	-	0	286	c.187G>A	c.(187-189)Gat>Aat	p.D63N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	63	J.				protein folding		heat shock protein binding|unfolded protein binding										TCATAGATATCGCGTTTCTTG	0.632000														210			12		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557754	149557754	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149557754G>C	uc010lpn.3	+	6	1697	c.1505G>C	c.(1504-1506)cGg>cCg	p.R502P		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.R502L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AAATCATCTCGGTTAGTCAGA	0.448000														82			32		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117237424	117237424	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117237424G>A	uc003pxm.3	+	8	982	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	307					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						TCCCCTGCTCGAAAATCCTGT	0.343000														101			6		0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216964685	216964685	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:216964685C>T	uc010zjr.2	+	3	640	c.314C>T	c.(313-315)aCt>aTt	p.T105I	TMEM169_uc010zjs.2_Missense_Mutation_p.T105I|TMEM169_uc002vfw.3_Missense_Mutation_p.T105I|TMEM169_uc002vfv.4_Missense_Mutation_p.T105I	NM_001142310	NP_612399	Q96HH4	TM169_HUMAN	Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA.	105						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCACCTTAACTGGGACCATC	0.498000														134			15		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876469	35876469	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35876469C>T	uc003jjs.3	+	7	1350	c.1261C>T	c.(1261-1263)Ctc>Ttc	p.L421F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	421					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCCATTTTCTCTCCAATCTGG	0.517000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							38			10		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846191	55846191	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55846191C>T	uc001sgz.1	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGAAATTTTTCCTTCTTAGAA	0.398000														67			17		0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477257	58477257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58477257C>T	uc001nnb.3	-	5	1028	c.873G>A	c.(871-873)tgG>tgA	p.W291*		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	291					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTACACAGTTCCACTGGTTCC	0.433000														84			9		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315789	30315789	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:30315789C>T	uc009xle.2	-	2	3425	c.3288G>A	c.(3286-3288)gtG>gtA	p.V1096V	KIAA1462_uc001iux.3_Silent_p.V1096V|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.V958V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1096										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGAGGGACTCCACCGCCACCT	0.612000														125			27		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421777	89421777	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:89421777G>A	uc001pda.3	+	9	1160	c.634G>A	c.(634-636)Gat>Aat	p.D212N		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	212					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATCTGGAAATGATTTTGAGGT	0.318000														79			12		0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74320213	74320213	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:74320213G>A	uc003phn.4	-	8	1297	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	SLC17A5_uc010kax.3_Missense_Mutation_p.S49F|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Intron	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	390					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACGGCCAAAGAATAATCACA	0.418000														118			21		0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104120149	104120149	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104120149G>A	uc010ouo.2	+	19	2843	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	AMY2B_uc001duq.3_Missense_Mutation_p.G380E|AMY2B_uc001dur.3_Missense_Mutation_p.G380E|AMY2B_uc001dus.1_Non-coding_Transcript	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	380					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			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)		AATAATAATGGAGTAATTAAA	0.358000														315			14		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248917	20248917	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20248917G>A	uc010tku.2	+	0	436	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	146					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)		TATCCTGGTGGCTCTCTCCTG	0.502000														402			16		0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131695	136131695	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:136131695G>A	uc004cda.1	-	7	445	c.420C>T	c.(418-420)ttC>ttT	p.F140F	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	141					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GGCCCACCATGAAGTGCTTCT	0.687000														58			14		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649312	47649312	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:47649312C>T	uc010jzj.1	+	5	1018	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	GPR111_uc003oyy.3_Silent_p.V271V	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	339					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTCTCAGGTCATCAGCATTG	0.438000														123			18		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053729	94053729	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:94053729G>A	uc003ung.1	+	40	3118	c.2647G>A	c.(2647-2649)Ggt>Agt	p.G883S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	883					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGGTGAACGTGGTCTACCAGG	0.478000										HNSCC(75;0.22)				75			28		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30138773	30138773	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30138773G>A	uc010jrx.3	+	5	1347	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	290	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCATCATCTGGAAATAGATTC	0.428000														139			8		0	0	1	0	0
P2RX4	5025	broad.mit.edu	37	12	121659960	121659960	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:121659960C>T	uc001tzr.3	+	3	722	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	P2RX4_uc010szr.1_Non-coding_Transcript|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.3_Missense_Mutation_p.H140Y|P2RX4_uc010szt.2_Missense_Mutation_p.H39Y|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	140					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCCGGCACCCACAGCAACGG	0.572000														100			6		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156940505	156940505	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156940505C>T	uc003lwz.3	-	7	754	c.675G>A	c.(673-675)aaG>aaA	p.K225K	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Silent_p.K156K	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	225	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCGTCGATTCTTCTGAAACT	0.473000														76			17		0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1256442	1256442	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1256442G>A	uc001aef.1	-	3	591	c.78C>T	c.(76-78)atC>atT	p.I26I	CPSF3L_uc001aee.1_Silent_p.I20I|CPSF3L_uc009vjz.1_Silent_p.I20I|CPSF3L_uc010nyj.1_5'UTR|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Silent_p.I20I|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_5'UTR|CPSF3L_uc001aen.1_Silent_p.I20I			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	20						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGAGACCAGGATGCAGCTTC	0.652000														115			26		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553751	106553751	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:106553751G>A	uc003prd.2	+	4	1950	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	PRDM1_uc003pre.3_Silent_p.K438K	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	572					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGAACGGCAAGATCAAGTACG	0.522000			"""D, N, Mis, F, S"""		DLBCL									48			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441463	179441463	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179441463C>T	uc021vsy.1	-	273	62029	c.61804G>A	c.(61804-61806)Gaa>Aaa	p.E20602K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E14297K|TTN_uc021vta.1_Missense_Mutation_p.E14230K|TTN_uc021vtb.1_Missense_Mutation_p.E14105K|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21529	Fibronectin type-III 49.						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)			CCTGTAATTTCGCTGCCACCA	0.473000														112			22		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87738790	87738790	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:87738790C>T	uc003ydx.3	-	2	355	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	103					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGGTCCATTTCCTTCTGCTCT	0.438000														215			16		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113890711	113890711	+	Silent	SNP	G	A	A	rs143953030		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113890711G>A	uc003ebd.2	-	2	552	c.129C>T	c.(127-129)atC>atT	p.I43I	DRD3_uc010hqn.1_Silent_p.I43I|DRD3_uc003ebb.1_Silent_p.I43I|DRD3_uc003ebc.1_Silent_p.I43I	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	43					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGCCGAAGACGATGGCCAGGA	0.607000														62			12		0	0	1	0	0
CCL25	6370	broad.mit.edu	37	19	8122725	8122725	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8122725C>T	uc002mjd.3	+	4	477	c.366C>T	c.(364-366)tcC>tcT	p.S122S	CCL25_uc002mjc.4_Silent_p.S121S|CCL25_uc010dvy.1_Nonsense_Mutation_p.Q78*	NM_005624	NP_005615	O15444	CCL25_HUMAN	Homo sapiens chemokine (C-C motif) ligand 25 (CCL25), transcript variant 1, mRNA.	122					G-protein coupled receptor protein signaling pathway|chemotaxis|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ctggaaactccaagttatcat	0.458000														40			3		0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118426141	118426141	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:118426141G>A	uc001ehf.3	-	10	1515	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	GDAP2_uc001ehg.3_Silent_p.L406L	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	406	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AGTTTCTTCAGGAAGTCGGAG	0.358000														51			13		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14716842	14716842	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:14716842G>A	uc003jfm.4	-	8	1445	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	372					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GAGAAGATCCGCAAAGGAACA	0.408000														37			3		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156273856	156273856	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:156273856G>A	uc003ios.3	-	12	1977	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	MAP9_uc011cin.2_Silent_p.F546F|MAP9_uc010iqa.1_Non-coding_Transcript	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	571					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		cctttTGCTTGAAAAAAGCTT	0.279000														19			4		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476906	57476906	+	Missense_Mutation	SNP	G	A	A	rs144227484		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57476906G>A	uc009vzx.1	-	12	1804	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	DAB1_uc001cyt.1_Missense_Mutation_p.S493L|DAB1_uc001cyq.1_Missense_Mutation_p.S493L|DAB1_uc001cyr.1_Missense_Mutation_p.S409L|DAB1_uc009vzw.1_Missense_Mutation_p.S477L|DAB1_uc001cys.1_Missense_Mutation_p.S495L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	528					cell differentiation|nervous system development			p.S495L(2)		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						GGATGCAGATGATTTGGATGG	0.493000														67			29		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94512510	94512510	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94512510G>A	uc001dqh.3	-	18	2987	c.2883C>T	c.(2881-2883)ttC>ttT	p.F961F	ABCA4_uc010otn.1_Silent_p.F887F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	961	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGTGGCCCAGGAATGCGGTGA	0.537000														156			50		0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063350	41063350	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:41063350C>T	uc002icb.1	+	4	1060	c.981C>T	c.(979-981)ttC>ttT	p.F327F	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	327			Missing (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTGTCCTTCTGCAAGAGTG	0.577000														153			16		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370683	48370683	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48370683G>A	uc001jex.3	+	1	313	c.151G>A	c.(151-153)Gag>Aag	p.E51K	ZNF488_uc021ppx.1_Missense_Mutation_p.E51K	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGTGCTGCTCGAGAAGACGAA	0.677000														87			7		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56718094	56718094	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56718094G>A	uc001skx.3	-	11	2289	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	PAN2_uc001skw.3_5'Flank|PAN2_uc001sky.3_Nonsense_Mutation_p.R638*|PAN2_uc001skz.3_Nonsense_Mutation_p.R638*	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	638					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCAGCACCTCGATAAGCCTGT	0.473000														93			21		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117709096	117709096	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117709096C>T	uc003pxp.1	-	12	2060	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	621	Fibronectin type-III 3.				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)		TGAGTGACTTCAGGAGGGTCT	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									151			29		0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332487	144332487	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144332487C>T	uc003yxw.3	+	1	832	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.L158L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	158					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCAATCTCCTGAAACATC	0.562000														121			13		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59093111	59093111	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:59093111G>A	uc002iyv.4	+	16	1596	c.1487_splice	c.e16-1	p.G496_splice	BCAS3_uc010wow.1_Splice_Site_p.G283_splice|BCAS3_uc002iyu.4_Splice_Site_p.G496_splice|BCAS3_uc002iyw.4_Splice_Site_p.G492_splice|BCAS3_uc002iyy.4_Splice_Site_p.G267_splice|BCAS3_uc002iyz.4_Splice_Site_p.G50_splice|BCAS3_uc002iza.4_Splice_Site_p.G50_splice	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	496						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCTCTTTGTAGGGAAACTGAA	0.438000														136			34		0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85660996	85660996	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:85660996C>T	uc002blh.3	+	16	1849	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	PDE8A_uc021stv.1_Missense_Mutation_p.P482S|PDE8A_uc002bli.3_Missense_Mutation_p.P508S|PDE8A_uc010bnc.3_Missense_Mutation_p.P307S|PDE8A_uc010bnd.3_Missense_Mutation_p.P307S|PDE8A_uc002blj.3_Missense_Mutation_p.P174S|PDE8A_uc002blk.3_Missense_Mutation_p.P174S|PDE8A_uc002bll.3_5'Flank	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	554	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTCCTCCAATCCCTACCACAA	0.423000														189			22		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9266038	9266038	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:9266038G>A	uc001qvk.1	-	1	301	c.188C>T	c.(187-189)tCc>tTc	p.S63F	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	63				Missing (in Ref. 8; AA sequence).	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			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)	AGACTCCAAGGAAGCACTTAC	0.542000														83			5		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783022	43783023	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:43783022_43783023CC>TT	uc001ciu.3	+	14	2739_2740	c.2562_2563CC>TT	c.(2560-2565)atccgg>atTTgg	p.R855W	TIE1_uc010oke.2_Missense_Mutation_p.R810W|TIE1_uc009vwq.3_Missense_Mutation_p.R811W|TIE1_uc010okg.2_Missense_Mutation_p.R500W	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	855	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCAGGTCATCCGGGCCATGAT	0.599000														114			7		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54591200	54591200	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:54591200C>T	uc002lgk.1	+	21	3785	c.3574C>T	c.(3574-3576)Cct>Tct	p.P1192S	WDR7_uc002lgl.1_Missense_Mutation_p.P1159S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1192										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCCCAAACTTCCTCCACACAG	0.458000														54			5		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288818	7288818	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7288818C>T	uc001qss.3	+	4	1333	c.795C>T	c.(793-795)atC>atT	p.I265I	CLSTN3_uc001qsr.3_Silent_p.I253I	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	253					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACAAAAGGATCGAATATGCAC	0.552000														68			5		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101353791	101353791	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:101353791C>T	uc001pgk.4	-	4	1824	c.1399G>A	c.(1399-1401)Ggc>Agc	p.G467S	TRPC6_uc009ywy.3_Missense_Mutation_p.G351S|TRPC6_uc009ywz.1_Missense_Mutation_p.G412S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	467					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTTTTGTGCCTTCAAATCTG	0.433000														50			8		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623100	80623100	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:80623100T>A	uc001szd.3	+	6	532	c.526T>A	c.(526-528)Ttt>Att	p.F176I		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAGCTTGTTCTTTTCAAACCA	0.358000														66			8		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475444	157475444	+	Silent	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:157475444T>G	uc003wno.3	-	12	2095	c.1974A>C	c.(1972-1974)ccA>ccC	p.P658P	PTPRN2_uc003wnp.3_Silent_p.P641P|PTPRN2_uc003wnq.3_Silent_p.P629P|PTPRN2_uc003wnr.3_Silent_p.P620P|PTPRN2_uc011kwa.2_Silent_p.P681P	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	658						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATCTGCACCTGGGTCGCCCC	0.557000														147			14		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53074095	53074095	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:53074095G>A	uc003xqz.2	-	8	1590	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ST18_uc011ldq.1_Silent_p.F125F|ST18_uc011ldr.1_Silent_p.F443F|ST18_uc011lds.1_Silent_p.F383F|ST18_uc003xra.2_Silent_p.F478F|ST18_uc003xrb.2_Silent_p.F478F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	478						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTTGTGACGGGAAATTGAATT	0.423000														69			16		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870681	51870681	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51870681C>T	uc002xwo.3	+	1	1571	c.684C>T	c.(682-684)gtC>gtT	p.V228V	TSHZ2_uc021wex.1_Silent_p.V225V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	228					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACACCCTAGTCGAGCTGACTG	0.547000														41			5		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119321	38119321	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:38119321G>A	uc003atr.3	+	6	1029	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	TRIOBP_uc003atu.3_Missense_Mutation_p.R81Q|TRIOBP_uc003atq.1_Missense_Mutation_p.R253Q|TRIOBP_uc003ats.1_Missense_Mutation_p.R81Q	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	253					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)					AGTGGACCTCGAAGCACCACG	0.612000														36			8		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764322	77764322	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77764322T>A	uc003yau.2	+	9	5552	c.5165T>A	c.(5164-5166)tTt>tAt	p.F1722Y	ZFHX4_uc003yaw.1_Missense_Mutation_p.F1677Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1677	Gln-rich.					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)			TTGCCTCATTTTCCTATGACC	0.478000										HNSCC(33;0.089)				65			7		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133041385	133041385	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:133041385C>T	uc003ytg.2	-	11	1073	c.1073G>A	c.(1072-1074)aGg>aAg	p.R358K	OC90_uc011lix.1_Missense_Mutation_p.R358K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	374	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCAGCCCAGCCTTCTCACTTG	0.522000														75			9		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51512899	51512899	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:51512899G>A	uc003pah.1	-	62	11604	c.11328C>T	c.(11326-11328)tcC>tcT	p.S3776S		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3776					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S3776S(2)		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)					GAGGTCCCAGGGACTCTACTC	0.413000														68			4		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347241	71347241	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:71347241C>T	uc011cat.2	+	3	1068	c.780C>T	c.(778-780)gtC>gtT	p.V260V	MUC7_uc011cau.2_Silent_p.V260V|MUC7_uc003hfj.3_Silent_p.V260V	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	260	Thr-rich.					extracellular region	protein binding	p.V260A(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACAGCTGTCCCACCCACAC	0.592000														107			27		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560825	210560825	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:210560825T>G	uc002vde.1	+	6	4179	c.3931T>G	c.(3931-3933)Ttt>Gtt	p.F1311V	MAP2_uc002vdc.1_Missense_Mutation_p.F1311V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.F1307V	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1311					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGCGTGCGTTTTGCAGCCCT	0.507000														76			6		0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15756159	15756159	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:15756159T>A	uc003caj.1	-	8	1054	c.911A>T	c.(910-912)aAa>aTa	p.K304I	ANKRD28_uc003cai.1_Missense_Mutation_p.K150I|ANKRD28_uc011avz.1_Missense_Mutation_p.K150I|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Missense_Mutation_p.K334I|ANKRD28_uc003cam.2_Missense_Mutation_p.K337I	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	304						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTTCCCATCTTTACTCTGGGG	0.358000														22			4		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490034	42490034	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42490034G>A	uc002osh.3	-	5	742	c.588C>T	c.(586-588)atC>atT	p.I196I	ATP1A3_uc010xwf.2_Silent_p.I207I|ATP1A3_uc010xwg.2_Silent_p.I166I|ATP1A3_uc002osg.3_Silent_p.I196I|ATP1A3_uc010xwh.2_Silent_p.I209I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	196					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.I195I(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGTGGGCTGAGATGATCCGCA	0.662000														113			12		0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27269230	27269230	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27269230C>T	uc001bng.1	+	4	625	c.509C>T	c.(508-510)cCc>cTc	p.P170L	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	170	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCAGACCTGCCCAATTACCGC	0.557000														37			12		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60499261	60499261	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:60499261C>T	uc001czs.2	-	6	1024	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	306							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTCAAAATCTCCAACAGACTC	0.473000														117			15		0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159584071	159584071	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:159584071G>A	uc003fcq.2	+	6	1287	c.1106_splice	c.e6+1	p.R369_splice	IQCJ-SCHIP1_uc003fcr.2_Splice_Site_p.R342_splice|IQCJ-SCHIP1_uc003fcs.2_Splice_Site_p.R293_splice|IQCJ-SCHIP1_uc003fct.2_Splice_Site_p.R280_splice|IQCJ-SCHIP1_uc021xgm.1_Splice_Site_p.R61_splice|IQCJ-SCHIP1_uc010hvz.1_Splice_Site_p.R253_splice|IQCJ-SCHIP1_uc003fcu.2_Splice_Site_p.R50_splice	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	293						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TTTCCTCCCGGTGAGTGTTCT	0.388000														88			39		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550333	39550333	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39550333G>A	uc002hwn.3	-	6	1239	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	396	Tail.				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)				CAGGGGGCAGGAGGGACACAA	0.622000														70			6		0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118621577	118621577	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:118621577G>A	uc003ebw.3	-	6	1333	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	IGSF11_uc011biv.2_Silent_p.T334T|IGSF11_uc003ebx.3_Silent_p.T338T|IGSF11_uc003eby.3_Silent_p.T361T|IGSF11_uc003ebz.3_Silent_p.T337T|IGSF11_uc010hqs.3_Silent_p.T361T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA.	362					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGACCAGATGGGTCCCATTAG	0.498000														81			18		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958681	121958681	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:121958681C>T	uc003idq.1	-	3	972	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	149										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GAAAGAAGATCCAACTGATAT	0.408000														82			22		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169329	138169329	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:138169329G>A	uc002tva.1	+	12	2753	c.2753G>A	c.(2752-2754)gGa>gAa	p.G918E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G808E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCACCGAGGACTGCGGGTA	0.488000														91			13		0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131553020	131553020	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:131553020C>T	uc010myj.3	+	2	227	c.104C>T	c.(103-105)cCc>cTc	p.P35L	TBC1D13_uc010myk.3_Missense_Mutation_p.P35L|TBC1D13_uc010myl.3_Intron	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	35	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACAGGCATCCCCTGTGAGGGC	0.657000														111			11		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25273711	25273711	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:25273711C>T	uc001isg.1	-	4	883	c.718G>A	c.(718-720)Gac>Aac	p.D240N	ENKUR_uc001ish.1_Missense_Mutation_p.D178N	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	240						cilium|flagellum	SH3 domain binding|calmodulin binding	p.D240N(2)|p.H239H(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ATGCCAATGTCGTGTTCTAGT	0.353000														39			6		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261757	16261757	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16261757C>T	uc001axk.1	+	10	9226	c.9022C>T	c.(9022-9024)Cca>Tca	p.P3008S	SPEN_uc010obp.1_Missense_Mutation_p.P2967S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3008					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCCAGCATCCCAGCAGATCG	0.617000														69			13		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641515	141641515	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141641515C>T	uc002tvj.1	-	24	5012	c.4040G>A	c.(4039-4041)gGa>gAa	p.G1347E	LRP1B_uc010fnl.1_Missense_Mutation_p.G529E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1347					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)		GTATATGTTTCCTGCTATCCA	0.488000										TSP Lung(27;0.18)				99			13		0	0	1	0	0
CEBPA	1050	broad.mit.edu	37	19	33792420	33792420	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:33792420C>T	uc002nun.3	-	0	1011	c.901G>A	c.(901-903)Gac>Aac	p.D301N	LOC80054_uc002nuo.3_5'Flank	NM_004364	NP_004355	P49715	CEBPA_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), alpha (CEBPA), mRNA.	301					cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.D301>DKAKQRNVETQHH(2)|p.H200_K352>Q(2)|p.R300_D301>QN(2)|p.R300L(2)|p.?(1)|p.D301_K302insQ(1)|p.D301_A303>A(1)|p.R300G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TTGGCCTTGTCGCGGCTCTTG	0.657000			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation					42			11		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62197148	62197148	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62197148G>A	uc002yfm.2	-	8	3919	c.3027C>T	c.(3025-3027)tcC>tcT	p.S1009S	PRIC285_uc002yfl.1_Silent_p.S440S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1009	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGATGTCACGGGATGCTGGGC	0.682000														27			5		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8148155	8148155	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8148155C>T	uc002mjf.3	-	55	7206	c.7189G>A	c.(7189-7191)Gat>Aat	p.D2397N	FBN3_uc002mje.3_Missense_Mutation_p.D236N	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2397	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTAGCATCCGGTGTGTAC	0.607000														114			24		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520110	23520110	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:23520110G>A	uc001bgn.3	-	0	1113	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	201					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCCCACAGGTGGAGTAGATGG	0.592000														56			25		0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71880335	71880335	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:71880335G>A	uc010qjg.2	-	3	451	c.435C>T	c.(433-435)atC>atT	p.I145I	AIFM2_uc021psi.1_Silent_p.I145I|AIFM2_uc001jqp.2_Silent_p.I145I	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	145					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CCACCACCACGATGAACCGTG	0.542000														89			10		0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99296284	99296284	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:99296284G>A	uc004awj.3	-	8	1323	c.871C>T	c.(871-873)Cct>Tct	p.P291S	CDC14B_uc004awk.3_Missense_Mutation_p.P291S|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Missense_Mutation_p.P254S	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	291	B.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCATCAGTAGGGGTGCTGCCA	0.428000														14			3		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147624	6147624	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6147624G>A	uc002mef.1	+	2	462	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Missense_Mutation_p.E79K|ACSBG2_uc002meh.1_Missense_Mutation_p.E79K|ACSBG2_uc002mei.1_Missense_Mutation_p.E29K|ACSBG2_uc010xiz.1_Missense_Mutation_p.E79K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	79					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						CAAAAAGTGGGAAATTCTGAA	0.433000														159			34		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073620	197073620	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197073620G>A	uc001gtu.3	-	17	5018	c.4761C>T	c.(4759-4761)atC>atT	p.I1587I	ASPM_uc001gtv.3_Intron|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.	1587	IQ 3.				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						CCTGAAATTTGATAATAGTCT	0.318000														34			5		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446683	226446683	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:226446683G>A	uc002voe.2	+	3	725	c.550G>A	c.(550-552)Gat>Aat	p.D184N	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	184																	ACCCCACAGCGATGAATATTC	0.413000														117			28		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41323742	41323742	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:41323742C>T	uc001rmm.1	+	6	754	c.641C>T	c.(640-642)tCc>tTc	p.S214F	CNTN1_uc009zjy.2_Missense_Mutation_p.S214F|CNTN1_uc001rmn.1_Missense_Mutation_p.S203F|CNTN1_uc001rmo.3_Missense_Mutation_p.S214F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	214	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCTTTGTTTCCAGTCCTTCT	0.393000														133			13		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55862811	55862811	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:55862811C>T	uc002eim.3	-	1	233	c.125G>A	c.(124-126)gGa>gAa	p.G42E	CES1_uc002eil.3_Missense_Mutation_p.G43E|CES1_uc002ein.3_Missense_Mutation_p.G42E	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	42					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGTGCAAATCCTTCTAAGCT	0.562000														60			6		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360232	55360232	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55360232G>A	uc003pcn.3	-	7	1029	c.870C>T	c.(868-870)atC>atT	p.I290I	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Silent_p.I260I|HMGCLL1_uc010jzx.3_Silent_p.I161I|HMGCLL1_uc011dxc.2_Silent_p.I228I|HMGCLL1_uc011dxd.2_Silent_p.I157I	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	290							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.I290F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGCCGTAAGGATATTTGCTA	0.388000														45			7		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307481	37307481	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:37307481G>A	uc001caz.2	-	9	1521	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	GRIK3_uc001cba.1_Silent_p.F462F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	462					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGTAGCCCTCGAACCGGTCAT	0.572000														140			39		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905118	55905118	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55905118G>A	uc010riz.2	-	0	77	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGGAAGAGGGGAATCTGGAG	0.498000														94			5		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141325	143141325	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143141325C>T	uc011ktg.2	+	0	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	260					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCATATTTCCTGTCACTGG	0.493000														136			5		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698482	79698482	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:79698482C>T	uc022bzm.1	+	0	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S	FAM46D_uc004edl.1_Silent_p.S148S|FAM46D_uc004edm.2_Silent_p.S148S	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	148										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GTCTTATCTCCCTTTCAAATA	0.373000														64			21		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1104127	1104127	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1104127G>A	uc001lsx.1	+	50	8333	c.8306G>A	c.(8305-8307)aGc>aAc	p.S2769N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5135						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGGTCCTGAGCTGCCCCAAT	0.682000														25			6		0	0	1	0	0
FAM75A2	642265	broad.mit.edu	37	9	39890224	39890224	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:39890224G>A	uc004abp.3	+	3	3240	c.3211G>A	c.(3211-3213)Gag>Aag	p.E1071K		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	1071						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGCTTCCCAGGAGCTACATGA	0.547000														79			27		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279226	74279226	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:74279226C>T	uc003hgs.4	+	7	1006	c.933C>T	c.(931-933)tcC>tcT	p.S311S	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Silent_p.S119S|ALB_uc011cbf.2_Silent_p.S201S	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	311	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			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)	TGGAAAAATCCCACTGCATTG	0.408000														71			15		0	0	1	0	0
MAFA	389692	broad.mit.edu	37	8	144511643	144511643	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144511643C>T	uc003yyc.2	-	0	960	c.934G>A	c.(934-936)Gag>Aag	p.E312K		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA.	312					insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			TCGTATTTCTCCTTGTACAGG	0.721000										HNSCC(29;0.082)				23			7		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172351850	172351850	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:172351850G>A	uc011bpx.2	-	4	900	c.762C>T	c.(760-762)ctC>ctT	p.L254L	NCEH1_uc003fig.3_Silent_p.L246L|NCEH1_uc011bpw.2_Silent_p.L81L|NCEH1_uc011bpy.2_Silent_p.L81L	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	214				D -> G (in Ref. 2; BAH14142).	lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CTTGTAGTTTGAGCTTATTTT	0.368000														50			7		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461462	106461462	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:106461462C>T	uc001tlj.1	-	6	2484	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	368							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGATTTCTTCAGCGACCGCT	0.552000														97			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457754	179457754	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179457754C>T	uc021vsy.1	-	248	51613	c.51388G>A	c.(51388-51390)Gat>Aat	p.D17130N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D10825N|TTN_uc021vta.1_Missense_Mutation_p.D10758N|TTN_uc021vtb.1_Missense_Mutation_p.D10633N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18057	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTTAGATCGACTGAATTG	0.393000														94			10		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12091441	12091441	+	Missense_Mutation	SNP	C	T	T	rs150213244	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12091441C>T	uc001ato.2	+	8	1454	c.1061C>T	c.(1060-1062)aCc>aTc	p.T354I		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	354										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTGTCCGGCACCAGCAGCCCT	0.627000														106			4		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41012731	41012731	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:41012731C>T	uc003jmj.4	-	29	3579	c.3089G>A	c.(3088-3090)tGg>tAg	p.W1030*	HEATR7B2_uc003jmi.4_Nonsense_Mutation_p.W585*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1030							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						AGTGATCATCCATATGCCACA	0.453000														46			13		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335417	20335417	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20335417C>T	uc002dgv.3	-	2	339	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GP2_uc002dgw.3_Missense_Mutation_p.D86N|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	86						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGTTTTTATCGCACCCCTGG	0.562000														75			15		0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34329811	34329811	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34329811C>G	uc021oky.1	+	0	19	c.19C>G	c.(19-21)Cta>Gta	p.L7V	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.L7V|HMGB4_uc001bxq.3_Intron	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	7						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAAATCCAGCTAAAGCCTAA	0.408000														100			12		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61597359	61597359	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61597359G>A	uc010xev.2	+	5	661	c.571G>A	c.(571-573)Gga>Aga	p.G191R	SERPINB2_uc010xew.2_Missense_Mutation_p.G191R	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	206					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATACTTTAAAGGAATCTGGGA	0.393000														63			11		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355513	201355513	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:201355513C>T	uc001gwm.3	-	2	1211	c.976G>A	c.(976-978)Gct>Act	p.A326T	LAD1_uc009wzu.1_Missense_Mutation_p.A348T	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	326						basement membrane	structural molecule activity	p.A326A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGGTCTGAAGCCCCCTGCTTT	0.672000														11			4		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71843061	71843061	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:71843061C>T	uc004eax.4	-	17	2159	c.1858G>A	c.(1858-1860)Gac>Aac	p.D620N	PHKA1_uc004eay.4_Missense_Mutation_p.D620N|PHKA1_uc011mqi.2_Missense_Mutation_p.D620N	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	620					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGTCCAGGGTCCATGAAGCTC	0.393000														26			6		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784066	8784066	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:8784066C>T	uc002glt.3	-	18	2600	c.2533G>A	c.(2533-2535)Gac>Aac	p.D845N	PIK3R5_uc010vuz.2_Missense_Mutation_p.D845N|PIK3R5_uc021tqc.1_Missense_Mutation_p.D459N|PIK3R5_uc010cob.2_Missense_Mutation_p.D459N|PIK3R5_uc010coa.2_Missense_Mutation_p.D459N|PIK3R5_uc002glu.4_Missense_Mutation_p.D459N	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	845					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAGGAGAGGTCGCTCTTCTCT	0.637000														35			6		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16513672	16513672	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:16513672T>C	uc003goz.3	-	5	987	c.671A>G	c.(670-672)aAc>aGc	p.N224S	LDB2_uc003gpa.3_Missense_Mutation_p.N224S|LDB2_uc011bxh.2_Missense_Mutation_p.N196S|LDB2_uc003gpb.3_Missense_Mutation_p.N224S|LDB2_uc010iee.3_Missense_Mutation_p.N224S|LDB2_uc011bxi.2_Missense_Mutation_p.N100S	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	224							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGGACTGAGGTTGTAAGTTTT	0.463000														40			6		0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122733860	122733860	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:122733860C>T	uc003pyu.2	+	2	468	c.281C>T	c.(280-282)cCt>cTt	p.P94L	HSF2_uc003pyt.4_Missense_Mutation_p.P94L|HSF2_uc003pyv.2_Missense_Mutation_p.P94L	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	94					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TTTCAGCATCCTTACTTCAAA	0.378000														74			15		0	0	1	0	0
PRAMEF16	654348	broad.mit.edu	37	1	13497603	13497603	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:13497603C>T	uc001aux.3	+	2	930	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_001045480	NP_001038945	Q5VWM1	PRA16_HUMAN	Homo sapiens PRAME family member 16 (PRAMEF16), mRNA.	300												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)		CCTTTATATTCTGTCATGCTT	0.483000														71			13		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958682	166958682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:166958682G>A	uc011bpc.2	-	21	2756	c.2419C>T	c.(2419-2421)Cag>Tag	p.Q807*	ZBBX_uc003feq.3_Nonsense_Mutation_p.Q739*|ZBBX_uc003fep.3_Nonsense_Mutation_p.Q768*	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	768						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGCAAAGACTGAATTTTGGTA	0.378000														66			12		0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7837362	7837362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7837362G>A	uc001aol.3	+	2	330	c.215G>A	c.(214-216)tGg>tAg	p.W72*		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	72	v-SNARE coiled-coil homology.				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAAATATTGGTGGAAGAAT	0.443000														25			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629474	179629474	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179629474G>A	uc021vsy.1	-	41	9993	c.9768C>T	c.(9766-9768)gcC>gcT	p.A3256A	TTN_uc021vsz.1_Silent_p.A3210A|TTN_uc021vta.1_Silent_p.A3210A|TTN_uc021vtb.1_Silent_p.A3210A|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Silent_p.A3256A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3256	Ig-like 19.						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)			CACAGAAGCGGGCAGGCTTGC	0.512000														88			4		0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61178549	61178549	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61178549G>A	uc001nrq.3	-	8	1416	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	CPSF7_uc001nrp.3_Missense_Mutation_p.P471S|CPSF7_uc001nrr.3_Missense_Mutation_p.P419S	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	428	Arg-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GACCGGCTAGGTGACCTTTCC	0.502000														101			7		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928890	4928890	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4928890C>T	uc010qyq.2	+	0	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A96T(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATGCCTGCTTTGCTCAAG	0.453000														92			15		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769807	247769807	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247769807G>A	uc010pyz.2	+	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G307R(1)|p.S306*(1)		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)			CTTCTCTCGGGAAAATTGTGA	0.383000														44			6		0	0	1	0	0
VASH2	79805	broad.mit.edu	37	1	213146091	213146091	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:213146091C>T	uc001hjy.3	+	4	871	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Missense_Mutation_p.R158W|VASH2_uc010ptn.2_Missense_Mutation_p.R119W|VASH2_uc001hjw.3_Missense_Mutation_p.R179W	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	223					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		ATTGACTTTTCGGACTCTGAG	0.512000														59			8		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161322755	161322755	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:161322755G>A	uc010jiw.3	+	9	1408	c.940G>A	c.(940-942)Gat>Aat	p.D314N	GABRA1_uc010jix.3_Missense_Mutation_p.D314N|GABRA1_uc010jiy.3_Missense_Mutation_p.D314N|GABRA1_uc003lyx.4_Missense_Mutation_p.D314N|GABRA1_uc010jiz.3_Missense_Mutation_p.D314N|GABRA1_uc010jja.3_Missense_Mutation_p.D314N|GABRA1_uc010jjb.3_Missense_Mutation_p.D314N	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	314					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AACAGCTATGGATTGGTTTAT	0.428000														50			13		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3736193	3736193	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3736193C>T	uc010xhv.2	+	9	1257	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	TJP3_uc010xhs.2_Silent_p.F386F|TJP3_uc010xht.2_Silent_p.F350F|TJP3_uc010xhu.2_Silent_p.F395F|TJP3_uc010xhw.2_Silent_p.F405F	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	400	PDZ 3.					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)		TGGTCCGCTTCCTCAAGGGCA	0.677000														42			5		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131755900	131755900	+	Missense_Mutation	SNP	C	T	T	rs148734941		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:131755900C>T	uc004bws.1	+	26	2966	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C	NUP188_uc004bwu.3_Missense_Mutation_p.R325C	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	982					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTGCTGCATCGTGCCGCCAT	0.557000														55			8		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7673916	7673916	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7673916C>T	uc002giu.1	+	24	4154	c.4140C>T	c.(4138-4140)ctC>ctT	p.L1380L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1380	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTCAGCTCGACATAGTAC	0.542000														54			7		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153471384	153471384	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:153471384G>A	uc002tye.3	+	11	1449	c.1082G>A	c.(1081-1083)aGt>aAt	p.S361N		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	361	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CACACTGAGAGTGACAAGCTT	0.418000														45			10		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189916093	189916093	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189916093G>A	uc002uqk.3	-	41	3159	c.2884C>T	c.(2884-2886)Cct>Tct	p.P962S	COL5A2_uc010frx.3_Missense_Mutation_p.P538S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	962					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)			GGGCCACCAGGGGGGCCAGCT	0.597000														58			6		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338293	28338293	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:28338293G>A	uc002ymg.3	-	0	1147	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	140					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGAGAGCGGGGACTACCGTCC	0.667000														22			4		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785516	12785516	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12785516C>T	uc009vnn.1	+	3	839	c.606C>T	c.(604-606)ttC>ttT	p.F202F	AADACL3_uc001aug.1_Silent_p.F132F	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	202							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGGATTTCAGCTCCTCCT	0.468000														160			39		0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405046	61405046	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61405046G>A	uc001nrz.1	+	4	1650	c.895G>A	c.(895-897)Gat>Aat	p.D299N						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		CCCAGCTAAGGATGAAGCCAA	0.547000														31			6		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19770462	19770462	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19770462A>G	uc002nnh.4	-	2	653	c.625T>C	c.(625-627)Ttc>Ctc	p.F209L	ATP13A1_uc002nng.3_Missense_Mutation_p.F91L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	209					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCTTCCTGGAAGCCTCTGTTG	0.502000														63			11		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120470978	120470978	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:120470978C>T	uc004bjz.3	+	1	522	c.231C>T	c.(229-231)ttC>ttT	p.F77F	TLR4_uc004bkb.3_Intron|TLR4_uc004bka.3_Silent_p.F37F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	77					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|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 production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCTTCAGTTTCCCAGAACTGC	0.448000														109			24		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219618942	219618942	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219618942C>T	uc002viy.3	+	19	3800	c.3430C>T	c.(3430-3432)Cct>Tct	p.P1144S	TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.3_Missense_Mutation_p.P1080S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1144					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGGCCTTTCCCCTTATCCCCA	0.522000														136			14		0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170618602	170618602	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:170618602C>T	uc003ish.3	+	8	1839	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	CLCN3_uc003isi.3_Missense_Mutation_p.P427L|CLCN3_uc011cka.2_Missense_Mutation_p.P400L|CLCN3_uc011cjz.2_Missense_Mutation_p.P410L|CLCN3_uc003isj.2_Missense_Mutation_p.P400L	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	427					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	p.P427P(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGAAAGTATCCCGTTCTGGAA	0.443000														63			18		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502323	94502323	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94502323C>T	uc001dqh.3	-	25	3939	c.3835G>A	c.(3835-3837)Gat>Aat	p.D1279N		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1279					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAATCAGAATCCTCCGTGACC	0.438000														147			42		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401548	34401548	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34401548G>A	uc001bxm.1	-	3	702	c.525C>T	c.(523-525)ccC>ccT	p.P175P	CSMD2_uc001bxn.1_Silent_p.P135P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	135	Sushi 1.					integral to membrane|plasma membrane	protein binding	p.A175A(1)		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)				ATGTGTGGCTGGGGAGAACTG	0.597000														69			14		0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152096188	152096188	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:152096188C>T	uc010ipl.1	-	6	1418	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	SH3D19_uc003imc.2_Missense_Mutation_p.G110S|SH3D19_uc003ime.2_Missense_Mutation_p.G110S|SH3D19_uc010ipm.2_Missense_Mutation_p.G110S	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	110	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CGTATAAGGCCAGGGTTTGGT	0.547000														104			6		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44249171	44249171	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:44249171G>A	uc002ikc.3	-	1	810	c.339C>T	c.(337-339)ctC>ctT	p.L113L	KANSL1_uc002ikd.3_Silent_p.L113L|KANSL1_uc010dav.3_Silent_p.L113L	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	113						MLL1 complex	protein binding										ACTGAGATAAGAGAGGATGAG	0.443000														207			9		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485851	11485851	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:11485851C>T	uc021zzo.1	-	12	3153	c.2901G>A	c.(2899-2901)ggG>ggA	p.G967G	THSD7A_uc021zzn.1_Silent_p.G967G	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	967	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGACCAGTTCCCCACAGGTT	0.398000										HNSCC(18;0.044)				138			26		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73045047	73045047	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73045047C>T	uc004ebn.2	+	0		c.33008C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CATGTGTTTTCGTTTCTGATA	0.333000														11			5		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103346790	103346790	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:103346790G>A	uc001vpj.3	-	0	65	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	20							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GCCACCCGGGGAGCTGAGTCC	0.592000														28			7		0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720723	135720723	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:135720723C>T	uc003eqv.2	+	1	1000	c.383C>T	c.(382-384)tCc>tTc	p.S128F	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	128					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAGAATTTTCCTTTGAAAAA	0.378000														50			6		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165183001	165183001	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:165183001C>T	uc001gcz.2	-	4	740	c.546G>A	c.(544-546)ggG>ggA	p.G182G	LMX1A_uc021pdz.1_Silent_p.G182G|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGTTCCTTTCCCTGCCCCAT	0.493000														147			12		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205592993	205592993	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:205592993G>A	uc001hcy.2	-	1	1268	c.18C>T	c.(16-18)acC>acT	p.T6T	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Silent_p.T6T|SLC45A3_uc010prn.1_Silent_p.T95T|SLC45A3_uc010pro.1_Silent_p.T279T|SLC45A3_uc010prp.1_Non-coding_Transcript|SLC45A3_uc010prq.1_Non-coding_Transcript	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ACTGCCACAGGGTGATAGCAC	0.423000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									80			6		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71928964	71928964	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71928964C>T	uc001swl.3	+	3	474	c.426C>T	c.(424-426)tcC>tcT	p.S142S	LGR5_uc001swm.3_Silent_p.S142S|LGR5_uc021rar.1_Silent_p.S142S|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	142						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCCTTCAATCCCTGTAAGTAT	0.353000														75			7		0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11615843	11615844	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:11615843_11615844CC>TT	uc011kxc.1	+	5	1648_1649	c.1191_1192CC>TT	c.(1189-1194)atccac>atTTac	p.H398Y	GATA4_uc003wub.1_Missense_Mutation_p.H191Y|GATA4_uc003wuc.2_Missense_Mutation_p.H397Y|C8orf49_uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	397					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GGCCCTCCATCCACCCTGTCCT	0.599000														98			11		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41186300	41186300	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:41186300G>A	uc003jmk.2	-	5	808	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	C6_uc003jml.1_Silent_p.L200L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	200	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCCTGCCAGAAAATGAAAC	0.358000														31			10		0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904719	62904719	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62904719C>T	uc002yil.4	+	5	1052	c.852C>T	c.(850-852)cgC>cgT	p.R284R	PCMTD2_uc002yim.4_Silent_p.R257R	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	284	Poly-Arg.					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGTTCGCCGCCGTCGAATGG	0.463000														84			17		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66707833	66707833	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:66707833C>T	uc001sti.2	+	4	1776	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Intron	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	583					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAATTTTCTTCGGTTAGAGTT	0.378000														73			10		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072032	34072032	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:34072032G>A	uc002hjv.2	-	5	2512	c.2484C>T	c.(2482-2484)tcC>tcT	p.S828S		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	828					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATCCACCCGGGATGCCTCCC	0.642000														63			15		0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960426	7960426	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:7960426G>A	uc010rbi.2	-	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	214					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)		AAGACAAGAGGATCAACAAGA	0.458000														67			7		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151393283	151393284	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151393283_151393284CC>TT	uc010ntk.1	-	5	825_826	c.585_586GG>AA	c.(583-588)ttggaa>ttAAaa	p.E196K		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	196					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)	GGAAAATCTTCCAAATGCATGG	0.371000														59			11		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763880	77763880	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77763880G>A	uc003yau.2	+	9	5110	c.4723G>A	c.(4723-4725)Gaa>Aaa	p.E1575K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E1530K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1530						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)			AGTTTTGCAGGAAGCCTCCAG	0.408000										HNSCC(33;0.089)				15			5		0	0	1	0	0
C17orf67	339210	broad.mit.edu	37	17	54872508	54872508	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:54872508G>A	uc010dci.3	-	2	390	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	C17orf67_uc002iuq.3_Non-coding_Transcript	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA.	88						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TCCTCAGCGCGATGCTCCAGG	0.552000														37			4		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48382187	48382187	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48382187G>A	uc001jez.3	-	3	3576	c.3462C>T	c.(3460-3462)ttC>ttT	p.F1154F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1154	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)	TGATATAGGTGAACTCCTCCG	0.597000														40			5		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907525	39907525	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39907525C>T	uc010xuz.2	+	6	954	c.629C>T	c.(628-630)cCg>cTg	p.P210L	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P151L|PLEKHG2_uc002olj.3_Missense_Mutation_p.P210L|PLEKHG2_uc010xva.2_Missense_Mutation_p.P17L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	210	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)			TCGTTGTCTCCGCCAGCAGCC	0.652000														169			14		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46900704	46900704	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46900704G>A	uc001ndn.4	-	20	3220	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	993					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGAAGACATGGATGTCCATT	0.612000														217			31		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70944574	70944574	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70944574G>A	uc003pfg.4	-	33	2341	c.2182C>T	c.(2182-2184)Cca>Tca	p.P728S	COL9A1_uc003pfe.4_Missense_Mutation_p.P277S|COL9A1_uc003pff.4_Missense_Mutation_p.P485S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	728	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTCCTCTTGGTCCTTCCACT	0.632000														37			7		0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332613	16332613	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16332613G>A	uc001axn.3	+	1	350	c.282G>A	c.(280-282)cgG>cgA	p.R94R		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	94										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGACTCGGGTGACCCCCA	0.637000														88			8		0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915757	20915757	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:20915757G>T	uc001bdk.3	+	0	314	c.135G>T	c.(133-135)caG>caT	p.Q45H	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	45					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGCTCACCCAGGAGGGGAGAA	0.612000														49			6		0.000157383	0.00015826	1	1	0
IL2RA	3559	broad.mit.edu	37	10	6063631	6063631	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:6063631C>T	uc001iiz.2	-	3	612	c.393G>A	c.(391-393)tgG>tgA	p.W131*	IL2RA_uc009xih.2_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	131	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity	p.W131*(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTTCATTTTCCCATGGTGGAG	0.527000														51			11		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033565	122033565	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:122033565C>T	uc022akp.1	-	19	3240	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N	CADPS2_uc003vkg.4_Missense_Mutation_p.D634N|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.D934N|CADPS2_uc022akr.1_Missense_Mutation_p.D940N	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	940	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCCATGAGATCCACATAGCGG	0.443000														105			5		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555132	44555132	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44555132G>A	uc010xdb.2	-	0	1318	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	361	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.S361L(2)|p.S361*(2)|p.Y360*(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCAAGAACCGAGTAGGGGAC	0.627000														688			6		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117701773	117701773	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:117701773G>A	uc001twn.2	-	12	2854	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	NOS1_uc021ren.1_Missense_Mutation_p.P379S|NOS1_uc021reo.1_Missense_Mutation_p.P379S|NOS1_uc001twm.2_Missense_Mutation_p.P715S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	715					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)	GTGTTCCAGGGATCAGGCTGG	0.577000														77			23		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76867787	76867787	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76867787G>A	uc001oyb.2	+	5	824	c.552G>A	c.(550-552)tgG>tgA	p.W184*	MYO7A_uc010rsl.2_Nonsense_Mutation_p.W184*|MYO7A_uc010rsm.1_Nonsense_Mutation_p.W173*|MYO7A_uc001oyc.2_Nonsense_Mutation_p.W184*	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	184	Myosin head-like.				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						AGCACTCGTGGATTGAGCAGC	0.637000														91			8		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	289848	289848	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:289848A>G	uc021xka.1	-	1	100	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L	ZNF732_uc011buu.1_Silent_p.L2L	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TAGTTCTCCAACATCACATCT	0.418000														44			9		0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37518344	37518344	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:37518344C>T	uc004aac.3	-	8	2420	c.2340G>A	c.(2338-2340)caG>caA	p.Q780Q	FBXO10_uc004aab.3_Silent_p.Q764Q|FBXO10_uc004aad.3_Silent_p.Q314Q	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	764						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTTGGCTGCTCTGGGCCACAG	0.587000														14			6		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78013838	78013838	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:78013838C>T	uc010dht.3	+	2	352	c.321C>T	c.(319-321)atC>atT	p.I107I	CCDC40_uc010wub.2_Silent_p.I107I|CCDC40_uc021uem.1_Silent_p.I107I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	107					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGGCAAATCAGTGCTGCAG	0.517000														61			15		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170783981	170783981	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:170783981C>T	uc003fhh.2	-	31	4339	c.3994G>A	c.(3994-3996)Gat>Aat	p.D1332N	TNIK_uc003fhi.2_Missense_Mutation_p.D1277N|TNIK_uc003fhj.2_Missense_Mutation_p.D1303N|TNIK_uc003fhk.2_Missense_Mutation_p.D1324N|TNIK_uc003fhl.2_Missense_Mutation_p.D1248N|TNIK_uc003fhm.2_Missense_Mutation_p.D1269N|TNIK_uc003fhn.2_Missense_Mutation_p.D1295N|TNIK_uc003fho.2_Missense_Mutation_p.D1240N|TNIK_uc003fhg.2_Missense_Mutation_p.D510N	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1332	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTACCTTATCATTTCTTTCA	0.368000														66			11		0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859926	132859926	+	Silent	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132859926G>T	uc011eci.2	+	1	497	c.495G>T	c.(493-495)tcG>tcT	p.S165S		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	166						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ACAGCTTTTCGATCTTTTACA	0.448000														68			10		3.86212e-05	3.88863e-05	1	1	0
IL10	3586	broad.mit.edu	37	1	206941988	206941988	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:206941988C>T	uc001hen.1	-	4	589	c.530G>A	c.(529-531)cGa>cAa	p.R177Q		NM_000572	NP_000563	P22301	IL10_HUMAN	Homo sapiens interleukin 10 (IL10), mRNA.	177					B cell differentiation|B cell proliferation|anti-apoptosis|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GTCTCAGTTTCGTATCTTCAT	0.458000														24			3		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128515	152128515	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152128515G>A	uc001ezs.1	-	2	1125	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	354	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						TGATCATAATGATAACACTGG	0.488000														617			143		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558451	140558451	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140558451C>T	uc011dai.2	+	0	1081	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	279	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S279F(2)|p.S279S(1)		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)			GGAGAGATTTCCTATTCACTT	0.413000														105			12		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37319396	37319396	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:37319396C>T	uc003aqa.4	+	2	404	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	CSF2RB_uc003aqc.4_Missense_Mutation_p.R63C	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	63					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCTCATTCGCCGGGTGAA	0.652000														34			5		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185837	127185837	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:127185837C>T	uc004eum.3	-	0	546	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	117						cytoplasm|cytoskeleton		p.E117K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCTCGAATTTCCCTAGGATTC	0.488000														162			59		0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139229058	139229058	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139229058C>T	uc010lnd.3	+	4	615	c.615C>T	c.(613-615)ccC>ccT	p.P205P		NM_001080511	NP_001073980	P0C7M8	CLC2L_HUMAN	Homo sapiens C-type lectin domain family 2, member L (CLEC2L), mRNA.	205	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					TGACCCGGCCCTGGGTGTGCA	0.637000														25			4		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833876	61833876	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61833876G>A	uc001jky.3	-	36	7101	c.6763C>T	c.(6763-6765)Cat>Tat	p.H2255Y	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.	2255					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						GGTGGAGAATGATAAACCATT	0.463000														73			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38987589	38987589	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:38987589G>A	uc002oit.3	+	41	7016	c.6886G>A	c.(6886-6888)Gaa>Aaa	p.E2296K	RYR1_uc002oiu.3_Missense_Mutation_p.E2296K|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2296	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGGACCTGGAAAAGGTGTG	0.637000														30			9		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934657	113934657	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:113934657C>T	uc001pop.3	+	1	899	c.635C>T	c.(634-636)tCt>tTt	p.S212F	ZBTB16_uc001poo.1_Missense_Mutation_p.S212F|ZBTB16_uc001poq.3_Missense_Mutation_p.S212F	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	212					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ATAGGACAGTCTCTCCTGCAG	0.602000														36			3		0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399033	107399033	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107399033C>T	uc003veq.3	+	5	1216	c.886C>T	c.(886-888)Cct>Tct	p.P296S	CBLL1_uc011kme.2_Missense_Mutation_p.P175S|CBLL1_uc011kmf.2_Missense_Mutation_p.P295S	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	296	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AATAACCGTCCCTATTCAGGA	0.488000														65			10		0	0	1	0	0
CA7	766	broad.mit.edu	37	16	66887392	66887393	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:66887392_66887393CC>TT	uc002eqi.3	+	6	895_896	c.786_787CC>TT	c.(784-789)ttccgg>ttTTgg	p.R263W	AF086125_uc002eqh.3_5'Flank|CA7_uc002eqj.3_Missense_Mutation_p.R207W	NM_005182	NP_001014435	P43166	CAH7_HUMAN	Homo sapiens carbonic anhydrase VII (CA7), transcript variant 1, mRNA.	263					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGGCCTCCTTCCGGGCCTGAGC	0.599000														29			3		0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816286	6816286	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6816286G>A	uc001mes.1	-	0	854	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGCCCCAGTGACAGAGAGTG	0.502000														113			21		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983821	51983821	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51983821G>A	uc002pwv.1	+	2	470	c.470G>A	c.(469-471)aGa>aAa	p.R157K		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	157						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAGTGAACAGAGAAGGCAGC	0.562000														59			5		0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70511718	70511718	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:70511718C>T	uc004dzo.3	+	4	954	c.244C>T	c.(244-246)Cct>Tct	p.P82S	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.P82S|NONO_uc004dzp.3_Missense_Mutation_p.P82S|NONO_uc011mpv.2_5'UTR|NONO_uc004dzq.3_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	82	DBHS.|RRM 1.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GGGAAATCTTCCTCCCGACAT	0.418000			T	TFE3	papillary renal cancer									57			13		0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36872037	36872037	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36872037C>T	uc002hqi.4	+	8	1005	c.992C>T	c.(991-993)tCc>tTc	p.S331F	MLLT6_uc010cvm.1_Missense_Mutation_p.S331F|MLLT6_uc002hqj.3_5'UTR|MLLT6_uc002hqk.4_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	331	Poly-Ser.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					tcctcttcttcctcctcctct	0.562000			T	MLL	AL									14			3		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:70585410G>A	uc003xyl.3	-	9	2948	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_uc010lzb.3_Silent_p.F692F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	747						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488000														111			6		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230322	147230322	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:147230322C>T	uc021ovl.1	-	0	1025	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	GJA5_uc001eps.1_Missense_Mutation_p.R342Q|GJA5_uc001ept.1_Missense_Mutation_p.R342Q	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	342					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ACTAAGACGTCGCTTGTCACT	0.547000														65			6		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057015	180057015	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:180057015G>A	uc003mlz.4	-	4	683	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	FLT4_uc003mma.4_Silent_p.L202L|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Silent_p.L202L|FLT4_uc011dgz.1_Silent_p.L202L|FLT4_uc011dha.1_Silent_p.P185P	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	202	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGGTACAGGGCATCGTGC	0.637000														48			16		0	0	1	0	0
SNTB2	6645	broad.mit.edu	37	16	69279525	69279525	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:69279525A>G	uc002ewu.3	+	1	621	c.601A>G	c.(601-603)Aca>Gca	p.T201A	SNTB2_uc021tkg.1_Non-coding_Transcript	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.	201	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CCGAGAAGTAACACCATATAT	0.403000														131			25		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228854	142228854	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:142228854C>T	uc003ywd.1	-	3	1040	c.732G>A	c.(730-732)ctG>ctA	p.L244L	SLC45A4_uc003ywc.1_Silent_p.L244L|SLC45A4_uc010meq.1_Silent_p.L242L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	295					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCGGGTAGTCCAGGGCCAGCT	0.692000														154			15		0	0	1	0	0
EDA2R	60401	broad.mit.edu	37	X	65819655	65819655	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:65819655G>A	uc004dwt.2	-	5	638	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	EDA2R_uc004dwr.3_Missense_Mutation_p.L189F|EDA2R_uc004dws.3_Missense_Mutation_p.L189F|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Missense_Mutation_p.L65F|EDA2R_uc004dwq.3_Missense_Mutation_p.L189F|EDA2R_uc022byh.1_Missense_Mutation_p.L191F	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	189					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACGGGGAAGAGAGATTCCTCC	0.532000														11			6		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112420872	112420872	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:112420872G>A	uc003kql.4	-	8	1950	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	MCC_uc003kqj.4_Missense_Mutation_p.P322S|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.P322S|MCC_uc010jcd.1_Missense_Mutation_p.P284S	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	322					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTGGCGATGGGAATGTCATTG	0.612000														111			5		0	0	1	0	0
MSX2P1	55545	broad.mit.edu	37	17	56235266	56235266	+	RNA	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56235266C>G	uc002ivn.3	+	0		c.947C>G								Homo sapiens msh homeobox 2 pseudogene 1 (MSX2P1), non-coding RNA.																		GTTCTGCAAACCCTGAGTGCA	0.522000														16			4		0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67227419	67227419	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:67227419G>A	uc002erz.3	+	4	514	c.451_splice	c.e4+1	p.G151_splice		NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	151	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TGCTTTGCTGGTGAGCAGAGC	0.547000														64			8		0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20458106	20458106	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:20458106G>A	uc002rds.1	-	14	2400	c.2382C>T	c.(2380-2382)gcC>gcT	p.A794A	PUM2_uc002rdq.1_Silent_p.A171A|PUM2_uc002rdt.1_Silent_p.A794A|PUM2_uc002rdr.2_Silent_p.A654A|PUM2_uc010yjy.1_Silent_p.A715A|PUM2_uc002rdu.1_Silent_p.A794A|PUM2_uc010yjz.1_Silent_p.A733A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	794	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTAGCCAGGGCTAATTTTT	0.398000														45			18		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43237141	43237141	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43237141G>A	uc002oue.3	-	2	636	c.504C>T	c.(502-504)acC>acT	p.T168T	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	168	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CAGGATCACAGGTTAAGCTCA	0.527000														254			43		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338392	186338392	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:186338392C>T	uc003fqk.4	+	6	858	c.777C>T	c.(775-777)ccC>ccT	p.P259P		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	259					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCACAGCCCCAACCAGAAG	0.612000														116			29		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701919	143701919	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143701919C>T	uc003wdt.1	+	0	830	c.830C>T	c.(829-831)gCc>gTc	p.A277V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A277A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATCTTCTATGCCATTGTCACT	0.423000														67			8		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532136	42532136	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:42532136G>A	uc010dni.3	+	3	3127	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	944						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAACGGAAAAGCCTGCAAAAC	0.512000									Schinzel-Giedion syndrome					47			9		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079577	31079577	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31079577C>T	uc003nsk.1	-	1	559	c.559G>A	c.(559-561)Ggg>Agg	p.G187R		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	187										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ATTTTTCCCCCGGCTCCCAGT	0.607000														54			9		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566428	55566428	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:55566428C>T	uc010qhq.2	-	34	5349	c.4954G>A	c.(4954-4956)Gaa>Aaa	p.E1652K	PCDH15_uc010qhr.2_Missense_Mutation_p.E1647K	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, 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)				CTATGAAATTCCAAAGCCTCC	0.448000										HNSCC(58;0.16)				93			14		0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228476231	228476231	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228476231G>A	uc002vph.3	-	2	567	c.332C>T	c.(331-333)tCc>tTc	p.S111F	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	111						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GGCAGTGCTGGAGAGAGTTTC	0.532000														71			4		0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247201223	247201223	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247201223G>A	uc001icd.2	-	3	915	c.698C>T	c.(697-699)tCa>tTa	p.S233L	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Missense_Mutation_p.S232L	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AAAAGTGAATGATTTACCACA	0.378000														37			5		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754868	94754868	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94754868G>A	uc001yct.3	-	2	1213	c.747C>T	c.(745-747)gtC>gtT	p.V249V	SERPINA10_uc001ycu.4_Silent_p.V249V	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	249					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTCGGTGAAGACAGGGTCAA	0.438000														61			8		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24445675	24445675	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:24445675C>T	uc002zzi.1	+	6	776	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F	CABIN1_uc021wnc.1_Missense_Mutation_p.L217F|CABIN1_uc002zzj.1_Missense_Mutation_p.L217F|CABIN1_uc002zzl.2_Missense_Mutation_p.L217F|CABIN1_uc010guk.1_Missense_Mutation_p.L172F|CABIN1_uc002zzk.2_Missense_Mutation_p.L172F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	217					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGAATGTTCCTCAAATGGTA	0.532000														65			4		0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455760	72455760	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:72455760G>A	uc002atq.3	-	9	827	c.803C>T	c.(802-804)cCa>cTa	p.P268L	GRAMD2_uc010bis.2_Missense_Mutation_p.P268L|GRAMD2_uc010ukh.2_Missense_Mutation_p.P62L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	268						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ACCCCAGCCTGGCATGGGCCA	0.532000														123			12		0	0	1	0	0
ACER3	55331	broad.mit.edu	37	11	76701612	76701612	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76701612C>T	uc009yum.1	+	5	536	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ACER3_uc010rsg.1_Silent_p.F102F|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Silent_p.F102F|ACER3_uc009yuo.1_Silent_p.F49F|ACER3_uc010rsh.1_Silent_p.F107F|ACER3_uc010rsi.1_Silent_p.F49F|ACER3_uc010rsj.1_Silent_p.F49F	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.	144					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to Golgi membrane|integral to endoplasmic reticulum membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						AGCCGATATTCCATCAGGTAA	0.318000														99			16		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810745	23810745	+	Splice_Site	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:23810745T>C	uc003sws.4	+	14	1900	c.1833_splice	c.e14+2	p.E611_splice	STK31_uc003swt.4_Splice_Site_p.E588_splice|STK31_uc011jze.2_Splice_Site_p.E611_splice|STK31_uc010kuq.3_Splice_Site_p.E588_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	611							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						AGTATTGAGGTTTGATTGTGC	0.303000														54			4		0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125734348	125734348	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:125734348G>A	uc003eij.3	-	7	1185	c.959C>T	c.(958-960)cCc>cTc	p.P320L	SLC41A3_uc003eii.3_Missense_Mutation_p.P294L|SLC41A3_uc003eil.3_Missense_Mutation_p.P320L|SLC41A3_uc003eik.3_Missense_Mutation_p.P284L|SLC41A3_uc011bkh.2_Missense_Mutation_p.P203L	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	320						integral to membrane|plasma membrane	cation transmembrane transporter activity	p.S319N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		ACATATGACGGGGGTAAATAT	0.512000														93			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400076	138400076	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:138400076G>A	uc002tva.1	+	19	3728	c.3728G>A	c.(3727-3729)cGa>cAa	p.R1243Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.P1242P(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCCGGACTCGATTTATCATT	0.498000														91			17		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352634	92352634	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:92352634T>C	uc003yez.3	+	7	1120	c.881T>C	c.(880-882)aTt>aCt	p.I294T	SLC26A7_uc003yex.3_Missense_Mutation_p.I294T|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.I294T	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	294						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCACAGAATTCCCTCACCT	0.448000														66			4		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167322348	167322348	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:167322348G>A	uc002udu.2	-	6	944	c.814C>T	c.(814-816)Caa>Taa	p.Q272*	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	272					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q272*(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCATTCTCTTGGGGCCATCGA	0.378000														63			11		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386996	124386996	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:124386996G>A	uc003vli.3	-	1	2076	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	475						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCGGGTACAGGCTTTCTCTG	0.443000														75			7		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183090914	183090914	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:183090914C>T	uc001gpy.4	+	11	2304	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	683	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGGAGTCCCTGCAACTTG	0.498000														34			4		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436195	42436195	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42436195G>A	uc001zoz.3	-	17	2215	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	PLA2G4F_uc010bcq.3_Intron|PLA2G4F_uc001zoy.3_Missense_Mutation_p.S340F|PLA2G4F_uc001zpa.3_Missense_Mutation_p.S459F|PLA2G4F_uc010bcr.3_Missense_Mutation_p.S459F|PLA2G4F_uc010bcs.3_Missense_Mutation_p.S495F	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	708	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCTTCCAAGGAATAGTCAAA	0.577000														87			4		0	0	1	0	0
TPD52	7163	broad.mit.edu	37	8	80965600	80965600	+	Silent	SNP	G	A	A	rs140252226		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:80965600G>A	uc022awn.1	-	2	643	c.321C>T	c.(319-321)atC>atT	p.I107I	TPD52_uc010lzr.3_Non-coding_Transcript|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Silent_p.I67I|TPD52_uc003ybt.1_Silent_p.I67I|TPD52_uc003ybq.1_Non-coding_Transcript|TPD52_uc003ybr.1_Silent_p.I107I|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Silent_p.I107I|TPD52_uc022awp.1_Silent_p.I107I	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.	107					B cell differentiation|anatomical structure morphogenesis|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GTTTCCGCTTGATCTCTGCTA	0.428000														92			12		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	440748	440748	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:440748G>A	uc003bot.3	+	25	3944	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E	CHL1_uc003bou.3_Missense_Mutation_p.G1085E|CHL1_uc003bow.2_Missense_Mutation_p.G1085E|CHL1_uc011asi.2_Missense_Mutation_p.G1048E	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1085					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGGTTTATTGGACTGATGTGT	0.368000														84			17		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30522560	30522560	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30522560G>A	uc010gdx.1	+	11	1126	c.873G>A	c.(871-873)gtG>gtA	p.V291V	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Silent_p.V193V|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	291	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCGAGGCAGTGGAGACACTCT	0.607000														64			7		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198740	55198740	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55198740C>T	uc003pcm.1	+	2	400	c.314C>T	c.(313-315)tCa>tTa	p.S105L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	105						integral to membrane	receptor activity	p.S105L(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCAATAAATCAGGTAATATT	0.269000														65			15		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56864660	56864660	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:56864660T>A	uc003xsk.4	+	6	905	c.623T>A	c.(622-624)aTt>aAt	p.I208N	LYN_uc003xsl.4_Missense_Mutation_p.I187N	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	208	SH2.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGCGACATGATTAAACATTAC	0.328000														44			4		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105937241	105937241	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105937241G>A	uc004emk.3	+	0	174	c.9G>A	c.(7-9)caG>caA	p.Q3Q		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 2, mRNA.	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAATGAACCAGGAGAATAGGT	0.353000														19			4		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4935359	4935359	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4935359C>T	uc002cyd.1	-	21	3387	c.3297G>A	c.(3295-3297)aaG>aaA	p.K1099K		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1099					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTCTAGCCTCTTGAGCTTGT	0.632000														98			15		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333108	57333108	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57333108C>T	uc002qnu.2	-	3	931	c.580G>A	c.(580-582)Gat>Aat	p.D194N	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.D69N|PEG3_uc010etp.2_Missense_Mutation_p.D69N|PEG3_uc010ygs.1_Missense_Mutation_p.D69N|PEG3_uc002qnq.2_Missense_Mutation_p.D69N|PEG3_uc002qnt.2_Missense_Mutation_p.D195N|PEG3_uc002qnv.2_Missense_Mutation_p.D194N|PEG3_uc002qnw.2_Missense_Mutation_p.D69N|PEG3_uc002qnx.2_Missense_Mutation_p.D68N|PEG3_uc010etr.2_Missense_Mutation_p.D194N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	194					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R193W(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)		AGGGAAAGATCCCGCGGAGGC	0.547000														140			14		0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367055	367055	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:367055C>T	uc003gaa.2	+	3	1006	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	277					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TAAGAGAATTCATGCTGGAGA	0.358000														56			6		0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508522	48508522	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:48508522C>T	uc003ctj.3	+	1	1890	c.633C>T	c.(631-633)atC>atT	p.I211I	TREX1_uc010hjy.3_Silent_p.I156I|TREX1_uc010hjz.3_Silent_p.I156I|TREX1_uc003ctk.3_Silent_p.I17I|TREX1_uc010hka.3_Silent_p.I211I	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	211					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding	p.S210T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGATAGCATCACTGCGCTGA	0.597000														59			10		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691817	49691818	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:49691817_49691818CC>TT	uc003cxe.4	+	4	4942_4943	c.4828_4829CC>TT	c.(4828-4830)cct>TTt	p.P1610F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1610					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)		CCCAGAGCCACCTGGGCCACCT	0.644000														35			3		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938063	75938063	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:75938063C>A	uc003hih.2	+	1	725	c.472C>A	c.(472-474)Ccc>Acc	p.P158T		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	158					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCTCATCACCCTCATCCCT	0.587000														156			37		1.47244e-24	1.49055e-24	1	1	0
CATSPER4	378807	broad.mit.edu	37	1	26527522	26527522	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:26527522G>A	uc010oez.2	+	7	1189	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	CATSPER4_uc010oey.1_Missense_Mutation_p.E219K|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	397					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCGAGATGAACTCAACAT	0.552000														68			16		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82322052	82322052	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:82322052G>A	uc004ald.3	+	11	1779	c.930G>A	c.(928-930)ggG>ggA	p.G310G	TLE4_uc004alc.3_Intron|TLE4_uc010mpr.3_Intron|TLE4_uc004ale.3_Intron|TLE4_uc011lsq.2_Intron|TLE4_uc010mps.3_Intron|TLE4_uc004alf.3_Intron	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGGATATGGGGAAATTGAGTG	0.373000														76			19		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022469	96022469	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:96022469G>A	uc001kjk.3	+	13	4667	c.4033G>A	c.(4033-4035)Gaa>Aaa	p.E1345K	PLCE1_uc010qnx.2_Missense_Mutation_p.E1329K|PLCE1_uc001kjm.3_Missense_Mutation_p.E1037K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1345					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CACTTATGATGAAATCCTCAG	0.438000														80			17		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540817	55540817	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55540817G>A	uc003xsd.1	+	3	4523	c.4375G>A	c.(4375-4377)Gaa>Aaa	p.E1459K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1459					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)			GACATCAAGTGAAAGAAACAT	0.373000														44			5		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151780097	151780097	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:151780097C>T	uc001ezh.3	-	10	1516	c.1408G>A	c.(1408-1410)Ggg>Agg	p.G470R	RORC_uc001ezg.3_Missense_Mutation_p.G449R|RORC_uc010pdo.2_Missense_Mutation_p.G524R|RORC_uc010pdp.2_Missense_Mutation_p.G458R|LINGO4_uc001ezf.1_5'Flank	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	470	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGAAGCTTCCCCTTGGGTGGC	0.557000														56			10		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853269	143853269	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:143853269G>A	uc003lnm.1	+	3	1508	c.879G>A	c.(877-879)aaG>aaA	p.K293K	KCTD16_uc003lnn.1_Silent_p.K293K	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	293						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)			GCTGCTGCAAGAATGGCAAAG	0.542000														47			9		0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49852543	49852543	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:49852543C>T	uc001vcu.3	+	6	1235	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	CDADC1_uc021rjm.1_Missense_Mutation_p.P370S|CDADC1_uc010tgk.2_Missense_Mutation_p.P172S|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	370							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CAATGCTTTTCCTGTTGGATC	0.413000														166			31		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172166042	172166042	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:172166042G>A	uc003fib.2	-	0	205	c.162C>T	c.(160-162)ttC>ttT	p.F54F	GHSR_uc011bpv.2_Silent_p.F54F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	54					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)			TGCCCACCACGAAGAGTGCCA	0.677000														70			6		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70014163	70014163	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:70014163G>A	uc003dnz.3	+	9	1490	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	MITF_uc011bgb.2_Missense_Mutation_p.D391N|MITF_uc003doa.3_Missense_Mutation_p.D442N|MITF_uc003dob.3_Missense_Mutation_p.D427N|MITF_uc021xam.1_Missense_Mutation_p.D280N|MITF_uc003doe.3_Missense_Mutation_p.D336N|MITF_uc003dof.3_Missense_Mutation_p.D342N	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	449					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AACAACTCTCGATCTCACGGA	0.493000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							66			8		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9228267	9228267	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:9228267G>A	uc001mhl.3	-	2	501	c.244C>T	c.(244-246)Cct>Tct	p.P82S	DENND5A_uc010rbw.2_Missense_Mutation_p.P82S|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	82	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACGTTCTCAGGATATCGTGCA	0.338000														112			27		0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47801557	47801557	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:47801557G>A	uc002lem.4	-	8	1288	c.851C>T	c.(850-852)cCc>cTc	p.P284L	MBD1_uc002lef.3_Missense_Mutation_p.P91L|MBD1_uc002leg.3_Missense_Mutation_p.P235L|MBD1_uc010dow.2_Missense_Mutation_p.P284L|MBD1_uc010xdi.2_Missense_Mutation_p.P335L|MBD1_uc010xdj.2_Missense_Mutation_p.P284L|MBD1_uc002lel.4_Missense_Mutation_p.P284L|MBD1_uc002len.3_Missense_Mutation_p.P284L|MBD1_uc002leh.4_Missense_Mutation_p.P284L|MBD1_uc002lei.4_Missense_Mutation_p.P284L|MBD1_uc002lej.4_Missense_Mutation_p.P284L|MBD1_uc002lek.4_Missense_Mutation_p.P235L|MBD1_uc021ukd.1_Missense_Mutation_p.P309L|MBD1_uc021uke.1_Missense_Mutation_p.P309L|MBD1_uc010xdk.2_Missense_Mutation_p.P309L|MBD1_uc010dox.1_Missense_Mutation_p.P284L|MBD1_uc002leo.2_Missense_Mutation_p.P284L	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	284	Pro-rich.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGCTCCGGGGCGCCGCCT	0.647000														86			10		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182554563	182554563	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:182554563A>G	uc009wxz.2	-	1	1636	c.1379T>C	c.(1378-1380)tTt>tCt	p.F460S	RNASEL_uc001gpk.3_Missense_Mutation_p.F460S|RNASEL_uc009wya.1_Missense_Mutation_p.F460S	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	460	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ATTTCGGGCAAATTCATCTTC	0.458000														55			4		0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122426	153122426	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153122426T>A	uc021ozu.1	-	0	161	c.161A>T	c.(160-162)aAa>aTa	p.K54I	SPRR2G_uc009wod.2_Missense_Mutation_p.K54I	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	54					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGGGCATTTATCCTGGCA	0.542000														71			22		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683187	140683187	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140683187G>A	uc003ljf.3	-	0	426	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	82					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CGTAGCACATGAAGAGGACCG	0.587000														78			11		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144082	55144082	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55144082C>T	uc002qgj.3	+	6	1169	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.L277F|LILRB1_uc002qgk.3_Missense_Mutation_p.L277F|LILRB1_uc002qgm.3_Missense_Mutation_p.L277F|LILRB1_uc010erq.3_Missense_Mutation_p.L277F|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.	277	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.G276W(1)		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)		CCAGGCTGGGCTCTCCCAGGC	0.617000										HNSCC(37;0.09)				78			12		0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22319543	22319543	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:22319543G>A	uc002dkk.3	+	3	318	c.162G>A	c.(160-162)caG>caA	p.Q54Q	POLR3E_uc002dkj.1_Silent_p.Q54Q|POLR3E_uc002dkm.3_Silent_p.Q18Q|POLR3E_uc010vbr.2_Silent_p.Q54Q|POLR3E_uc002dkl.3_Silent_p.Q54Q|POLR3E_uc010vbs.2_Silent_p.Q18Q|POLR3E_uc010vbt.2_Missense_Mutation_p.R15K	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	54					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCAAGCAGCAGAAGGTGGGGC	0.602000														48			10		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113554885	113554885	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:113554885C>T	uc001tun.2	-	8	1025	c.724G>A	c.(724-726)Gat>Aat	p.D242N	RASAL1_uc010syp.2_Missense_Mutation_p.D242N|RASAL1_uc001tul.3_Missense_Mutation_p.D242N|RASAL1_uc001tum.2_Missense_Mutation_p.D242N|RASAL1_uc010syq.2_Missense_Mutation_p.D242N|RASAL1_uc001tuo.4_Missense_Mutation_p.D242N|RASAL1_uc010syr.2_Missense_Mutation_p.D242N	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	242					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TACCCAGAATCCTCCTCGGCT	0.602000														41			4		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79317679	79317679	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:79317679C>T	uc002beq.3	-	9	1894	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	RASGRF1_uc002bep.3_Missense_Mutation_p.G507R|RASGRF1_uc010blm.1_Missense_Mutation_p.G429R|RASGRF1_uc002ber.4_Missense_Mutation_p.G507R	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	507	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGCTTCCCTCCAGAGCCTCTG	0.587000														47			8		0	0	1	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858564	27858565	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:27858564_27858565GG>AA	uc003nka.3	-	0	6_7	c.6_7CC>TT	c.(4-9)gcccgg>gcTTgg	p.R3W	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.	3					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGCTTCGTCCGGGCCATAGTTG	0.554000														44			5		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103356	57103356	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:57103356G>A	uc002lib.3	-	10	1075	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	CCBE1_uc010dpq.3_Silent_p.F64F|CCBE1_uc002lia.3_Silent_p.F188F	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	335					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCAGGAAGTCGAAAGAACCAG	0.542000														68			7		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564173	8564173	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8564173G>A	uc002mkd.3	-	1	582	c.519C>T	c.(517-519)ctC>ctT	p.L173L		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	221	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGGGTGACTGAGTTCGTCGG	0.701000														28			5		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34091495	34091495	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:34091495C>T	uc011kap.2	+	8	1073	c.699C>T	c.(697-699)ctC>ctT	p.L233L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	233					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTTTGACCTCCCTTTTGGGA	0.458000														67			13		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151753	87151753	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:87151753G>A	uc003ydp.1	+	2	439	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	124					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.E124K(2)|p.E124*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ATCTGTGAAAGAAATTCTGGG	0.428000														90			5		0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245391	137245391	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:137245391G>A	uc003qhe.3	+	1	973	c.808G>A	c.(808-810)Ggc>Agc	p.G270S		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	270					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CATCACGGTGGGCATGGTGGC	0.582000														44			7		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750388	234750388	+	Silent	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234750388A>T	uc002vvg.3	-	7	1104	c.1038T>A	c.(1036-1038)gtT>gtA	p.V346V	HJURP_uc010znd.2_Silent_p.V285V|HJURP_uc010zne.2_Silent_p.V254V	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	346					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)		TACGGCAAGAAACATCTAATA	0.443000														44			4		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35200630	35200630	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35200630G>A	uc003okf.1	+	4	479	c.473G>A	c.(472-474)gGa>gAa	p.G158E	SCUBE3_uc003okg.1_Splice_Site_p.G157_splice|SCUBE3_uc003okh.1_Missense_Mutation_p.G29E	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	158	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTTTTAGAAGGAATGAATTGC	0.512000														117			8		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160806044	160806044	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160806044C>T	uc009wtq.3	-	6	1075	c.850_splice	c.e6-1	p.E284_splice	CD244_uc001fxa.3_Splice_Site_p.E279_splice|CD244_uc009wtr.3_Splice_Site_p.E187_splice|CD244_uc009wtp.3_Splice_Site	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	284					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCTCCTGCTCCTGCACAAGA	0.493000														18			3		0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22769135	22769135	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:22769135G>A	uc003svj.4	+	3	443	c.327G>A	c.(325-327)gaG>gaA	p.E109E	LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Silent_p.E109E|IL6_uc011jyp.1_Silent_p.E33E|IL6_uc011jyq.1_Silent_p.E163E	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	109					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CCTCTTAGGAGACTTGCCTGG	0.428000														69			6		0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99695991	99695991	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:99695991G>A	uc001kou.2	-	2	713	c.357C>T	c.(355-357)gcC>gcT	p.A119A	CRTAC1_uc001kov.3_Silent_p.A119A|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	119						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGATGTCGCAGGCTGTGACCC	0.647000														54			12		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519035	113519035	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:113519035G>A	uc010ljy.1	-	3	2143	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	704					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTTGGCAGGTAAACAATT	0.398000														147			17		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816646	90816646	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:90816646G>A	uc003hst.3	+	0	595	c.524G>A	c.(523-525)gGa>gAa	p.G175E	MMRN1_uc010iku.3_Missense_Mutation_p.G141E	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	175					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ggaggcGTGGGAAATCGAGCC	0.498000														39			5		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120459206	120459207	+	Missense_Mutation	DNP	GG	AA	AA	rs140353589		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120459206_120459207GG>AA	uc001eik.3	-	33	6435_6436	c.6138_6139CC>TT	c.(6136-6141)ccccgg>ccTTgg	p.R2047W		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2047					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)		GCCACATCCCGGGGAAGACGAT	0.540000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					50			7		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158636952	158636952	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:158636952C>T	uc002tzn.3	-	3	658	c.228G>A	c.(226-228)caG>caA	p.Q76Q	ACVR1_uc002tzm.3_Silent_p.Q76Q|ACVR1_uc010fog.2_Silent_p.Q76Q	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	76					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TCATCTTTCCCTGCTCATAAA	0.567000														87			10		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33988599	33988599	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:33988599C>T	uc001zhi.3	+	38	6111	c.6041C>T	c.(6040-6042)aCc>aTc	p.T2014I	RYR3_uc010bar.3_Missense_Mutation_p.T2014I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2014	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTAAGCGACACCATCAACCTG	0.582000														69			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463349	179463349	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179463349C>T	uc021vsy.1	-	240	49516	c.49291G>A	c.(49291-49293)Gat>Aat	p.D16431N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D10126N|TTN_uc021vta.1_Missense_Mutation_p.D10059N|TTN_uc021vtb.1_Missense_Mutation_p.D9934N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17358	Fibronectin type-III 19.						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)			TTAGTCCAATCTGTCACTTTG	0.408000														28			7		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362521	9362521	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9362521T>C	uc002mlb.1	+	0	802	c.802T>C	c.(802-804)Tta>Cta	p.L268L		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGTTGTTTGCTTATTTTATGG	0.473000														25			3		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082053	193082053	+	Missense_Mutation	SNP	C	T	T	rs78621247		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193082053C>T	uc011bsq.2	-	1	80	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	27					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R27L(2)|p.R27Q(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTGTGGTCCCGGTAACCAAA	0.443000														143			33		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4724929	4724929	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:4724929C>T	uc001qnb.4	-	4	2782	c.2538G>A	c.(2536-2538)ctG>ctA	p.L846L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	846					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCAGCCAGTCCAGCAGCTGCA	0.602000														72			7		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166421	118166421	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:118166421C>T	uc021osq.1	+	0	931	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	FAM46C_uc001ehe.3_Missense_Mutation_p.R311C	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	311										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CATGATCCTTCGCAGGGTGGT	0.542000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				49			16		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102651289	102651289	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102651289G>A	uc001phg.2	-	0	71	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	12					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CAGACTGGCAGACACAACAGC	0.493000														19			5		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103911	170103911	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:170103911G>A	uc002ues.3	-	19	3098	c.2885C>T	c.(2884-2886)tCg>tTg	p.S962L	LRP2_uc010zdf.1_Missense_Mutation_p.S825L	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	962					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.S962*(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GACATCATACGATTTCAAATG	0.398000														53			4		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40940194	40940194	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40940194C>T	uc002ibj.3	+	8	1978	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	WNK4_uc010wgx.2_Missense_Mutation_p.S301F|WNK4_uc002ibk.1_Missense_Mutation_p.S409F|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	637					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGTGACTTTTCCCCCGGGGAC	0.537000														190			23		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845187	123845187	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123845187C>T	uc001lfv.3	+	3	3532	c.3172C>T	c.(3172-3174)Ccc>Tcc	p.P1058S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1058S|TACC2_uc010qtv.2_Missense_Mutation_p.P1058S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1058						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)				GGATGCAGTTCCCTGCCTGCC	0.627000														59			10		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534656	37534656	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:37534656C>T	uc002xje.3	+	6	930	c.741C>T	c.(739-741)ctC>ctT	p.L247L	PPP1R16B_uc010ggc.3_Intron	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	247					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCTGAGCTCCTCCTGGACC	0.597000														68			7		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472545	69472545	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:69472545C>T	uc002sfg.3	+	17	1979	c.1623C>T	c.(1621-1623)ccC>ccT	p.P541P		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	541	Pro-rich.				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						ccacccttccccctcctcccc	0.697000									Familial Infantile Hemangioma					7			4		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961413	34961413	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:34961413C>T	uc004ddi.2	+	0	501	c.465C>T	c.(463-465)ccC>ccT	p.P155P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	155										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGGATCCCGAGAGGAAGC	0.562000														16			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754490	140754490	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140754490C>T	uc003ljy.2	+	0	840	c.840C>T	c.(838-840)tcC>tcT	p.S280S	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_uc011dau.2_Silent_p.S280S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	280	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACTTATTCCTTTGTGAAGA	0.433000														28			6		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761353	96761353	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:96761353G>A	uc003htr.4	+	0	115	c.52G>A	c.(52-54)Gct>Act	p.A18T		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	18					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCAGAAATCAGCTCGCAGAGT	0.537000														30			7		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50607697	50607697	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:50607697G>A	uc003tpg.4	-	2	432	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Silent_p.F77F|DDC_uc022adb.1_Intron|DDC_uc022adc.1_Silent_p.F77F|DDC_uc022add.1_Silent_p.F77F|DDC_uc022adf.1_Silent_p.F77F|LOC100129427_uc022adg.1_Non-coding_Transcript	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	77	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGAAGTAGGCGAAGAAGTAGG	0.642000														25			7		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375835	175375835	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175375835C>T	uc001gkp.1	-	0	97	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TNR_uc009wwu.1_Missense_Mutation_p.E6K|TNR_uc010pmz.1_Missense_Mutation_p.E6K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	6					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCACTGTTTCCCCATCTGCC	0.532000														88			16		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732185	92732185	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92732185G>A	uc003umf.3	-	2	3496	c.3226C>T	c.(3226-3228)Cat>Tat	p.H1076Y	SAMD9_uc003umg.3_Missense_Mutation_p.H1076Y|SAMD9_uc022ahg.1_Missense_Mutation_p.H1076Y	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1076						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGAACCGATGGATACTTTCA	0.383000														45			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596871	179596871	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179596871C>T	uc021vsy.1	-	53	13318	c.13093G>A	c.(13093-13095)Gaa>Aaa	p.E4365K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1026K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5292	Ig-like 23.						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)			CCACTGTCTTCGATGCCAACA	0.423000														125			35		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429259	48429259	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48429259G>A	uc001jfb.3	-	1	1055	c.627C>T	c.(625-627)atC>atT	p.I209I	GDF10_uc009xnp.3_Silent_p.I208I|GDF10_uc009xnq.2_Silent_p.I209I	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	209					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCGCCTTGACGATGGGGGAGA	0.736000														40			11		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65978617	65978617	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:65978617C>T	uc001oha.2	+	3	681	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	PACS1_uc001ogz.1_Missense_Mutation_p.L183F	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	183				Missing (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCCTCATTTCCTTAAGCGAGA	0.493000														214			16		0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28791710	28791710	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:28791710C>T	uc002hfb.2	+	20	4078	c.4021C>T	c.(4021-4023)Cat>Tat	p.H1341Y	CPD_uc010wbo.2_Missense_Mutation_p.H1094Y|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	1341					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGGCAGCATCATGATGAGTA	0.448000														96			8		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36263196	36263196	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36263196G>A	uc010jwf.2	+	4	770	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	PNPLA1_uc010jwe.1_Missense_Mutation_p.R171Q|PNPLA1_uc003olw.1_Missense_Mutation_p.R162Q	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	257					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TACTTGAGGCGGCTGAGTAAG	0.562000														60			8		0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39578648	39578648	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39578648G>A	uc002hwp.1	-	3	818	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	257	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTCGATCCGGAACTTCTCCC	0.557000														172			15		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437145	120437145	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120437145C>T	uc001eij.3	-	0	2003	c.1815G>A	c.(1813-1815)atG>atA	p.M605I		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	605	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CATCATTTATCATACCTAGGT	0.433000														134			11		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834079	82834079	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:82834079C>T	uc003kii.3	+	7	5613	c.5257C>T	c.(5257-5259)Ccc>Tcc	p.P1753S	VCAN_uc003kij.3_Missense_Mutation_p.P766S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P417S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1753	GAG-beta.				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)		ATTAATTTTACCCTTTGAATT	0.388000														67			12		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364501	29364501	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29364501G>A	uc003nmf.4	+	0	86	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTCAGTCACCGAATTTCTCCT	0.433000														209			36		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833636	61833636	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61833636C>T	uc001jky.3	-	36	7341	c.7003G>A	c.(7003-7005)Gaa>Aaa	p.E2335K	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.	2335					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						TTACCTTTTTCGATGTGGACT	0.428000														75			8		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725715	168725715	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:168725715C>T	uc021vsc.1	+	0	166	c.166C>T	c.(166-168)Cga>Tga	p.R56*	B3GALT1_uc002udz.1_Nonsense_Mutation_p.R56*	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	56					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CATAAGAACTCGACCTATCAA	0.408000														84			11		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38278040	38278040	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:38278040G>A	uc001wuj.3	+	6	850	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.E153K|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		CAAGATAAGGGAACTTCAAAT	0.279000														60			17		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595719	82595719	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82595719G>A	uc003uhx.2	-	3	3674	c.3385C>T	c.(3385-3387)Cca>Tca	p.P1129S	PCLO_uc003uhv.2_Missense_Mutation_p.P1129S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1068					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTCCTGATGGTGCAGGTGGC	0.423000														53			6		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964707	119964707	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119964707C>T	uc001ehs.3	+	2	1356	c.583C>T	c.(583-585)Cca>Tca	p.P195S	HSD3B2_uc021ost.1_Missense_Mutation_p.P195S|HSD3B2_uc001eht.3_Missense_Mutation_p.P195S|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	195					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGAAGGAGGCCCATTCCTTTC	0.463000														74			23		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884065	38884065	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38884065G>A	uc003jln.2	+	4	957	c.555G>A	c.(553-555)caG>caA	p.Q185Q	OSMR_uc003jlm.2_Silent_p.Q185Q	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	185					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)					AAGGGAAACAGATTCATGGAG	0.373000														74			27		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27056151	27056151	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27056151C>T	uc001bmv.1	+	1	1520	c.1147C>T	c.(1147-1149)Cca>Tca	p.P383S	ARID1A_uc001bmt.1_Missense_Mutation_p.P383S|ARID1A_uc001bmu.1_Missense_Mutation_p.P383S|ARID1A_uc001bmw.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	383					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCATCCAGTCCAATGGATCA	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									110			21		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261885	125261885	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:125261885C>T	uc010flu.3	+	7	1443	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S359F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	359	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.C360F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTCACTTTTTCCTGCTCCGAA	0.463000														58			17		0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43385614	43385614	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43385614G>A	uc010ggu.3	-	4	586	c.519C>T	c.(517-519)gtC>gtT	p.V173V	RIMS4_uc002xms.3_Silent_p.V172V	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	172	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.V172V(2)|p.A173T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ACTTGCGAGCGACTTTGGTCT	0.562000														335			35		0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55208504	55208504	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:55208504C>A	uc002xya.3	+	3	925	c.682C>A	c.(682-684)Cct>Act	p.P228T	TFAP2C_uc010zzi.2_Missense_Mutation_p.P59T	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	228					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTGCTCAGTCCCTGGAAGATT	0.532000														76			5		0.014758	0.0147863	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92731165	92731165	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92731165G>A	uc003umf.3	-	2	4516	c.4246C>T	c.(4246-4248)Cga>Tga	p.R1416*	SAMD9_uc003umg.3_Nonsense_Mutation_p.R1416*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.R1416*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1416						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACTTCTCGAAGCTGATCT	0.373000														145			9		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601198	31601198	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31601198C>T	uc003nvb.4	+	16	4611	c.4362C>T	c.(4360-4362)ccC>ccT	p.P1454P	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.P1454P	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1454	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTGCCTCCCCCACCTCCCA	0.572000														63			5		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908974	123908974	+	Silent	SNP	G	A	A	rs151111393		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123908974G>A	uc001pzq.1	-	0	735	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		AAAGGACCACGATACAGTGGG	0.562000														50			6		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422810	64422810	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:64422810C>T	uc003pep.1	+	14	5351	c.5326C>T	c.(5326-5328)Cct>Tct	p.P1776S	PHF3_uc003pen.2_Missense_Mutation_p.P1688S|PHF3_uc011dxs.1_Missense_Mutation_p.P1045S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1776					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCAGAATTTCCTTCTAAAAG	0.423000														116			13		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113599416	113599416	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:113599416G>A	uc003ynu.3	-	22	3923	c.3764C>T	c.(3763-3765)cCa>cTa	p.P1255L	CSMD3_uc003yns.3_Missense_Mutation_p.P527L|CSMD3_uc003ynt.3_Missense_Mutation_p.P1215L|CSMD3_uc011lhx.2_Missense_Mutation_p.P1151L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1255	CUB 7.					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						TGGATAATTTGGAGACAGCAA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				62			10		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103290777	103290777	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103290777C>T	uc022ajr.1	-	15	2106	c.1946G>A	c.(1945-1947)aGg>aAg	p.R649K	RELN_uc022ajq.1_Missense_Mutation_p.R649K|RELN_uc010liz.3_Missense_Mutation_p.R649K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	649					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)		CCAGCGAATCCTGGTGTTCCG	0.428000														61			22		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573598	142573598	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142573598G>A	uc003wbx.2	-	6	1051	c.822C>T	c.(820-822)acC>acT	p.T274T	TRPV6_uc003wbw.1_Silent_p.T60T|TRPV6_uc010lou.1_Silent_p.T145T	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	274					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGAGAGTCGAGGTCAGTGGTC	0.522000														70			40		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193028503	193028503	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193028503G>A	uc011bsq.2	-	20	2449	c.2449C>T	c.(2449-2451)Ctg>Ttg	p.L817L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	817					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCATTCACCAGAATCTAAAAA	0.333000														44			3		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74658690	74658690	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74658690G>A	uc001jte.1	+	1	548	c.330G>A	c.(328-330)ggG>ggA	p.G110G	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	110						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCTTCAATGGGAACTGCTGTC	0.572000														34			5		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190674	153190674	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:153190674C>T	uc011dcy.2	+	15	2667	c.2640C>T	c.(2638-2640)ggC>ggT	p.G880G	GRIA1_uc003lva.4_Silent_p.G870G|GRIA1_uc003luy.4_Silent_p.G870G|GRIA1_uc003luz.4_Silent_p.G775G|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.G790G|GRIA1_uc011dcx.2_Silent_p.G801G|GRIA1_uc011dcz.2_Silent_p.G880G	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	870					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGCAGCGGCGGCAGTGGAG	0.577000														36			9		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644879	169644879	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:169644879G>A	uc003fgd.3	+	5	1096	c.829G>A	c.(829-831)Gat>Aat	p.D277N	SAMD7_uc003fge.3_Missense_Mutation_p.D277N|SAMD7_uc011bpo.2_Missense_Mutation_p.D178N	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	277										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCCTGGGACGATGGGAAAGA	0.567000														73			4		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625750	140625750	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140625750C>T	uc003lje.3	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	202	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACTGGATCGCGAGGAGCA	0.552000														28			3		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141321703	141321703	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:141321703C>T	uc011chi.2	-	8	720	c.502_splice	c.e8-1	p.E168_splice	CLGN_uc003iii.3_Splice_Site_p.E168_splice	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	168					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TAAAAGTTTTCCTTCAAAGAG	0.294000														13			3		0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799034	16799034	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:16799034C>T	uc002nes.3	+	5	843	c.752C>T	c.(751-753)tCg>tTg	p.S251L		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	251						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGTTTGGTTCGGCCTGCGGG	0.642000														262			44		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32407761	32407761	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:32407761G>A	uc004dda.1	-	31	4619	c.4375C>T	c.(4375-4377)Cga>Tga	p.R1459*	DMD_uc004dcw.2_Nonsense_Mutation_p.R115*|DMD_uc004dcx.2_Nonsense_Mutation_p.R118*|DMD_uc004dcz.2_Nonsense_Mutation_p.R1336*|DMD_uc004dcy.1_Nonsense_Mutation_p.R1455*|DMD_uc004ddb.1_Nonsense_Mutation_p.R1451*|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1459	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	p.R1454*(2)|p.R1455*(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)				TGGAATAATCGAAACTTCATG	0.348000														32			12		0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49425616	49425616	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49425616G>A	uc002plb.4	+	12	1655	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	NUCB1_uc002pld.3_Missense_Mutation_p.V104M	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	441						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCAGAAGGAGGTGGACACTTC	0.602000														134			11		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683532	6683532	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:6683532C>T	uc010vtg.2	+	1	465	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	115										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGCGGGGCCTCCTGTCTTGTC	0.488000														75			21		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354552	45354552	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:45354552C>T	uc002xsl.3	+	1	974	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	293						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCTGGTGGACCGTGCAGGCCG	0.657000														115			21		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244544	56244544	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56244544G>A	uc002qly.3	-	1	681	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	218	NACHT.					cytoplasm	ATP binding	p.S218F(2)		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)		CTCTGGCTGGGAAAAAATGTC	0.478000														23			4		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137304579	137304579	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:137304579C>T	uc003vtt.3	-	7	985	c.984G>A	c.(982-984)aaG>aaA	p.K328K	DGKI_uc003vtu.3_Silent_p.K28K	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	328					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						CCTGAGGTTTCTTCACCTTAA	0.517000														85			27		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98493390	98493390	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:98493390C>T	uc003upp.3	+	6	663	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	TRRAP_uc011kis.2_Missense_Mutation_p.H152Y	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	152					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)			TTTTTAGATTCATCATTTTCT	0.279000														9			3		0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95575786	95575786	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:95575786C>T	uc003hti.3	+	9	1610	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F	PDLIM5_uc011cdx.1_Missense_Mutation_p.L384F|PDLIM5_uc003htj.3_Missense_Mutation_p.L162F|PDLIM5_uc003htk.3_Missense_Mutation_p.L516F|PDLIM5_uc011cdy.2_Missense_Mutation_p.L365F|PDLIM5_uc003hth.3_Missense_Mutation_p.L378F|PDLIM5_uc003htl.3_Missense_Mutation_p.L162F	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	487	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAGGAAGATCCTTGGAGTAAG	0.353000														75			7		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420210	216420210	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:216420210G>A	uc001hku.1	-	12	2913	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	USH2A_uc001hkv.3_Silent_p.F842F	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	842	Laminin EGF-like 6.				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)		GCAGACAGAGGAAAGAATTAT	0.438000										HNSCC(13;0.011)				130			11		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155215138	155215138	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:155215138G>A	uc021xge.1	-	13	2106	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F	PLCH1_uc021xgd.1_Missense_Mutation_p.S610F|PLCH1_uc021xgf.1_Missense_Mutation_p.S592F	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)			AGCGGCCACGGAGTTTGTGTA	0.443000														126			13		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40065273	40065273	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40065273C>T	uc002hyg.3	-	5	748	c.585G>A	c.(583-585)ttG>ttA	p.L195L	ACLY_uc002hyh.3_Silent_p.L195L|ACLY_uc002hyi.3_Silent_p.L249L|ACLY_uc010wfx.2_Silent_p.L249L|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	195					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGGTGAAGTACAAGTCCTCGT	0.557000														24			3		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741356	48741356	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48741356G>A	uc002isl.3	+	9	1302	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	ABCC3_uc002isk.4_Missense_Mutation_p.E408K|ABCC3_uc002ism.3_Missense_Mutation_p.G120E	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	408	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CACTGTGGGGGAAATTGTCAA	0.567000														92			11		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753680	49753680	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49753680G>A	uc003ozu.3	-	0	1374	c.1221C>T	c.(1219-1221)atC>atT	p.I407I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	407					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCAGGAAGGATTTTACCTT	0.458000														66			24		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6204140	6204140	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:6204140G>A	uc001amb.2	-	11	1989	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	626	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGATGTCATCGATCTCCCAGG	0.592000														145			42		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27121432	27121432	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:27121432G>A	uc002ylx.4	+	4	457	c.307_splice	c.e4+1	p.G103_splice	GABPA_uc002yly.4_Splice_Site_p.G103_splice	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	103					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			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TCTTACCAAGGTAAGTTACTT	0.318000														30			6		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258227	18258227	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:18258227C>T	uc022asl.1	+	0	714	c.714C>T	c.(712-714)atC>atT	p.I238I	NAT2_uc003wyw.1_Silent_p.I238I	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	238					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGGGCTTCATCCTCACCTATA	0.383000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					47			5		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151085536	151085536	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151085536C>T	uc003eyp.3	+	21	3454	c.3325C>T	c.(3325-3327)Ccc>Tcc	p.P1109S	MED12L_uc011bnz.2_Missense_Mutation_p.P969S|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.P272S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1109					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)			TGTCGCACTTCCCTCTCTTCT	0.453000														150			14		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42689028	42689028	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:42689028C>T	uc021xxv.1	+	3	331	c.194C>T	c.(193-195)tCa>tTa	p.S65L	GHR_uc003jmt.3_Missense_Mutation_p.S58L|GHR_uc003jmu.3_Missense_Mutation_p.S58L|GHR_uc003jmv.2_Missense_Mutation_p.S58L|GHR_uc021xxw.1_Missense_Mutation_p.S58L|GHR_uc021xxx.1_Missense_Mutation_p.S58L|GHR_uc021xxy.1_Missense_Mutation_p.S58L|GHR_uc021xxz.1_Missense_Mutation_p.S58L|GHR_uc021xya.1_Missense_Mutation_p.S58L|GHR_uc021xyb.1_Missense_Mutation_p.S58L|GHR_uc021xyc.1_Missense_Mutation_p.S58L|GHR_uc011cpq.2_Intron|GHR_uc021xyd.1_Missense_Mutation_p.S36L	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	58					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)	AAGTGCCGTTCACCTGAGCGA	0.443000														149			27		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216235053	216235053	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:216235053T>C	uc002vfa.3	-	40	7083	c.6817A>G	c.(6817-6819)Aag>Gag	p.K2273E	FN1_uc002vfc.3_Missense_Mutation_p.K2036E|FN1_uc002vfe.3_Missense_Mutation_p.K2151E|FN1_uc002vff.3_Missense_Mutation_p.K2126E|FN1_uc002vfg.3_Missense_Mutation_p.K2092E|FN1_uc002vfh.3_Missense_Mutation_p.K1972E|FN1_uc002vfi.3_Missense_Mutation_p.K2242E|FN1_uc002vfj.3_Missense_Mutation_p.K2063E|FN1_uc002vfb.3_Missense_Mutation_p.K2061E|FN1_uc002vez.3_Missense_Mutation_p.K436E|FN1_uc010zjp.2_Missense_Mutation_p.K810E|FN1_uc002vfk.1_Non-coding_Transcript|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Missense_Mutation_p.K515E|FN1_uc010fvd.1_Missense_Mutation_p.K333E	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2182	Fibrin-binding 2.|Fibronectin type-I 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.V2273I(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCCGAACCTTATGCCTCTGC	0.527000														69			6		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726690	32726690	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32726690C>T	uc003obz.2	-	2	666	c.583G>A	c.(583-585)Gga>Aga	p.G195R	HLA-DQB2_uc003oby.4_Missense_Mutation_p.G195R	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	195					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TAGATGTCTCCACGCTGGGGA	0.567000														53			6		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117677906	117677906	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117677906C>T	uc003pxp.1	-	24	4226	c.4027G>A	c.(4027-4029)Gat>Aat	p.D1343N	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1343					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)		TTAGAGGTATCAATAGCCATT	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									68			10		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207785044	207785044	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:207785044C>T	uc001hfy.3	+	29	5108	c.4968C>T	c.(4966-4968)atC>atT	p.I1656I	CR1_uc001hfx.3_Silent_p.I2106I|CR1_uc021pij.1_Silent_p.I1656I	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1656	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTCCAGAAATCCTGCATGGTG	0.507000														87			5		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39886529	39886529	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:39886529C>T	uc001zkh.3	+	20	3572	c.3393C>T	c.(3391-3393)atC>atT	p.I1131I	THBS1_uc010bbi.3_Silent_p.I603I	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1131	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGAAGAAAATCATGGCTGACT	0.393000														63			10		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379322	48379322	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48379322G>A	uc001rqu.3	-	25	1910	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P508S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	577	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTACAGAAGGGCCAACTTTG	0.597000														132			10		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149514742	149514742	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149514742G>A	uc010lpk.3	+	78	11275	c.11275G>A	c.(11275-11277)Gag>Aag	p.E3759K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3762					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGCTGCAGGAGCTGGGAGC	0.652000														7			5		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44116454	44116454	+	Silent	SNP	G	A	A	rs139663254		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:44116454G>A	uc002ikc.3	-	8	2802	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	KANSL1_uc002ikd.3_Silent_p.P777P|KANSL1_uc010dav.3_Silent_p.P777P|KANSL1_uc010wkb.2_Silent_p.P108P|KANSL1_uc010wkc.2_Intron	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	777						MLL1 complex	protein binding										GGTCATGCACGGGTGGTGGTG	0.582000														134			9		0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74524979	74524979	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:74524979G>A	uc002fcx.3	-	7	1419	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	GLG1_uc002fcw.4_Nonsense_Mutation_p.R446*|GLG1_uc002fcy.4_Nonsense_Mutation_p.R457*|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	457						Golgi membrane|integral to membrane	receptor binding	p.R457L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CGCCCTTTTCGATGTAATCCG	0.507000														83			9		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39975505	39975505	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39975505C>T	uc002hxv.2	+	4	1096	c.771C>T	c.(769-771)ctC>ctT	p.L257L	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	257	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)		TTCACGTCCTCCTGATTGACG	0.627000														123			12		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32628082	32628082	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:32628082G>A	uc010ogy.2	+	8	910	c.883G>A	c.(883-885)Gtc>Atc	p.V295I	KPNA6_uc001bug.3_Missense_Mutation_p.V290I|KPNA6_uc001buh.3_Missense_Mutation_p.V65I|KPNA6_uc010ogx.2_Missense_Mutation_p.V287I	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	290					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GATCCAGGCAGTCATAGACTC	0.542000														111			13		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167040008	167040008	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:167040008C>T	uc011bpc.2	-	11	1217	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZBBX_uc003feq.3_Missense_Mutation_p.E265K|ZBBX_uc003fep.3_Missense_Mutation_p.E294K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	294						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTGTACTTCGCATTCTTCC	0.289000														34			8		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326097	31326097	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:31326097A>G	uc010dmg.1	+	11	6340	c.6285A>G	c.(6283-6285)gaA>gaG	p.E2095E	ASXL3_uc002kxq.2_Silent_p.E1802E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2095					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						GCAGCTGTGAACTGGGCATGA	0.403000														77			15		0	0	1	0	0
MOB1A	55233	broad.mit.edu	37	2	74386227	74386227	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74386227G>A	uc002skh.4	-	4	758	c.564C>T	c.(562-564)ttC>ttT	p.F188F		NM_018221	NP_060691	Q9H8S9	MOL1B_HUMAN	Homo sapiens MOB kinase activator 1A (MOB1A), mRNA.	188					hippo signaling cascade		metal ion binding|protein binding										CCTGAACAAAGAAAATAAAGT	0.413000														108			8		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53002075	53002075	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53002075C>T	uc001sas.3	-	8	1563	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	510	Tail.					keratin filament	structural molecule activity	p.G509V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTCCTGGCTTCCCCACGGGGG	0.587000														86			4		0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78601371	78601371	+	Missense_Mutation	SNP	G	A	A	rs138793126		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:78601371G>A	uc001dik.3	+	5	1082	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	298						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTCCCAGACGAATTTGTCTT	0.423000														29			3		0	0	1	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016474	22016474	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:22016474C>T	uc010tzk.1	-	0	405	c.243G>A	c.(241-243)acG>acA	p.T81T						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		GCTGAAAATTCGTTACATTTA	0.388000														27			3		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106139922	106139922	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:106139922C>T	uc001kyh.3	+	8	1443	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	437										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GATCATCTTTCATCTGGAAAA	0.493000														93			4		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848969	73848969	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:73848969G>A	uc003xzb.3	+	2	1967	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	460					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCTTCGCTCGAAGTATGGAA	0.512000														90			18		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614069	158614069	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158614069C>T	uc001fst.1	-	29	4511	c.4312G>A	c.(4312-4314)Gat>Aat	p.D1438N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1438					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1437D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGTCCAAATCGTCCCGTTTC	0.403000														56			6		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555058	76555058	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:76555058C>T	uc002fex.1	+	14	2535	c.2396C>T	c.(2395-2397)tCc>tTc	p.S799F	CNTNAP4_uc002feu.1_Missense_Mutation_p.S795F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S660F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S723F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	796	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTCAGCTTCCTTTGATACC	0.328000														101			17		0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	169023840	169023840	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169023840T>C	uc002uea.3	-	2	559	c.399A>G	c.(397-399)gaA>gaG	p.E133E		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	133	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CCAGCCAAAGTTCATCTTTGA	0.378000														39			4		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135433610	135433610	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135433610C>T	uc004ezu.1	+	6	7023	c.6732C>T	c.(6730-6732)tcC>tcT	p.S2244S	GPR112_uc010nsb.1_Silent_p.S2039S|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2244					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)					TTACAGTTTCCTTCTACAATG	0.289000														29			9		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133965	57133965	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57133965C>T	uc002qnm.4	+	2	1548	c.1310C>T	c.(1309-1311)cCg>cTg	p.P437L	ZNF71_uc021vcg.1_Missense_Mutation_p.P437L	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGCGAGAAGCCGTACAGGTGC	0.652000														58			10		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752598	247752598	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247752598G>A	uc010pyy.2	+	0	937	c.937G>A	c.(937-939)Gga>Aga	p.G313R		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G313R(2)		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)			AAAGGCTCTGGGAGtaaatat	0.318000														59			11		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588049	113588049	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113588049G>A	uc002tii.1	-	6	786	c.699C>T	c.(697-699)ttC>ttT	p.F233F	IL1B_uc002tih.1_Silent_p.F202F	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	233					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ACCAGTTGGGGAACTGGGCAG	0.448000														100			15		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903249	4903249	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4903249C>T	uc010qyp.2	+	0	201	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACCATTGCCCTCTTGGGAA	0.473000														91			6		0	0	1	0	0
MMD	23531	broad.mit.edu	37	17	53481141	53481141	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:53481141G>A	uc002iui.3	-	4	718	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	145					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCATGGTAGAGAAATACATAA	0.328000														36			4		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185081	24185081	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:24185081C>T	uc003ccz.4	-	8	1169	c.649G>A	c.(649-651)Gag>Aag	p.E217K	THRB_uc010hfe.3_Missense_Mutation_p.E217K|THRB_uc003ccy.4_Missense_Mutation_p.E217K|THRB_uc003ccx.4_Missense_Mutation_p.E217K	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	217					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCCCATTCCTCGTCTGTGGGC	0.567000														78			15		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74597754	74597754	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74597754C>T	uc002skx.3	-	9	1360	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	DCTN1_uc002skv.3_Missense_Mutation_p.E214K|DCTN1_uc002sku.3_Missense_Mutation_p.E214K|DCTN1_uc002skw.2_Missense_Mutation_p.E341K|DCTN1_uc010ffd.3_Missense_Mutation_p.E328K|DCTN1_uc002sky.3_Missense_Mutation_p.E311K	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	348					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTACCCTTCTCTTCAATCTCA	0.567000														102			13		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19501773	19501774	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19501773_19501774CC>TT	uc002dgc.4	+	17	3379_3380	c.2630_2631CC>TT	c.(2629-2631)tcc>tTT	p.S877F	TMC5_uc010vaq.2_Missense_Mutation_p.S825F|TMC5_uc002dgb.4_Intron|TMC5_uc010var.2_Missense_Mutation_p.S877F|TMC5_uc002dgd.1_Missense_Mutation_p.S631F|TMC5_uc002dge.4_Missense_Mutation_p.S631F|TMC5_uc002dgf.4_Missense_Mutation_p.S560F|TMC5_uc002dgg.4_Missense_Mutation_p.S518F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	877						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						TTCATTCACTCCATCTACAGCT	0.480000														150			33		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102604102	102604102	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:102604102G>A	uc003vaq.2	-	7	1029	c.602C>T	c.(601-603)tCc>tTc	p.S201F	FBXL13_uc010liq.1_Missense_Mutation_p.S16F|FBXL13_uc010lir.1_Missense_Mutation_p.S201F|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.S201F|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	201										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTCACTGAGGAAAAATCAAT	0.318000														49			4		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752138	76752138	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:76752138G>A	uc002lmt.3	+	1	147	c.147G>A	c.(145-147)gaG>gaA	p.E49E	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGGGCGAGGAGACCAGCGTGT	0.692000														17			5		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55328594	55328594	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:55328594C>T	uc002lgw.3	-	21	2639	c.2519G>A	c.(2518-2520)aGg>aAg	p.R840K	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	840					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTCTAGCCTCCTTTTACTTTG	0.483000														47			14		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53233127	53233127	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53233127C>T	uc001sbc.1	-	8	1397	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	445	Ser-rich.|Tail.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCAACTCCTCCAGACATGACA	0.612000														22			3		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161781186	161781186	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161781186A>G	uc021zhu.1	-	11	1451	c.1360T>C	c.(1360-1362)Tcc>Ccc	p.S454P	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Intron|PARK2_uc010kkd.3_Missense_Mutation_p.S216P|PARK2_uc003qtx.4_Missense_Mutation_p.S407P|PARK2_uc021zhs.1_Missense_Mutation_p.S329P|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.S379P|PARK2_uc003qtz.4_Missense_Mutation_p.S258P|PARK2_uc021zhv.1_Missense_Mutation_p.S328P|PARK2_uc021zhw.1_Missense_Mutation_p.S216P|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.S357P|PARK2_uc011egf.2_Missense_Mutation_p.S81P	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	407					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.W453L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTTTCTTTGGAGGCTGCTTCC	0.512000														113			13		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560333	44560333	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44560333C>T	uc002lcr.1	-	0	1656	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	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.	435					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						GACTGGCTTTCCTGGACAGGA	0.577000														116			24		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38805727	38805727	+	Missense_Mutation	SNP	G	A	A	rs151175737	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38805727G>A	uc021yzh.1	+	32	4484	c.4375G>A	c.(4375-4377)Gat>Aat	p.D1459N	DNAH8_uc003ooe.2_Missense_Mutation_p.D1242N	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						GGCCAGTTTCGATGATCTGTG	0.323000														41			4		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17213224	17213224	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:17213224C>T	uc010eak.3	+	1	849	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	MYO9B_uc002nfi.3_Nonsense_Mutation_p.Q233*|MYO9B_uc002nfj.1_Nonsense_Mutation_p.Q233*	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	233	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGCGTGAACCAGTGCATCGT	0.617000														83			13		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234580813	234580813	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234580813C>T	uc002vus.3	+	0	270	c.233C>T	c.(232-234)tCa>tTa	p.S78L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.S78L	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	80					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAGACTTATTCAACTTCATAT	0.458000														94			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014198	9014198	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9014198G>A	uc002mkp.3	-	31	38654	c.38450C>T	c.(38449-38451)aCc>aTc	p.T12817I	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12819				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCTGATGGGTGAAACCTGC	0.522000														71			9		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916903	150916903	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:150916903C>T	uc003eyq.4	-	2	511	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.A91T	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGGCAGGCTGTTACTTGG	0.433000														62			13		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564272	176564272	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176564272C>T	uc001gkz.3	+	2	2696	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	PAPPA2_uc001gky.1_Missense_Mutation_p.S511F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	511	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAATTGATCTCCCAGTACAAT	0.532000														42			8		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702221	43702221	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43702221C>T	uc002ovy.3	-	2	739	c.637G>A	c.(637-639)Gga>Aga	p.G213R	PSG4_uc010xwk.1_Missense_Mutation_p.G52R|PSG4_uc002ovz.3_Missense_Mutation_p.G213R|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	213	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TCATAGGGTCCTGCAATATAC	0.507000														194			39		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236221	42236221	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42236221G>A	uc003ose.2	-	4	1671	c.1108C>T	c.(1108-1110)Ccc>Tcc	p.P370S	TRERF1_uc011duq.1_Missense_Mutation_p.P370S|TRERF1_uc003osb.2_Missense_Mutation_p.P209S|TRERF1_uc003osc.2_Missense_Mutation_p.P209S|TRERF1_uc003osd.2_Missense_Mutation_p.P370S	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	370	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGCCCAGGGGAATCAGCTGG	0.607000														164			17		0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2953287	2953287	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:2953287T>C	uc003muk.3	-	3	2559	c.564A>G	c.(562-564)aaA>aaG	p.K188K	SERPINB6_uc003mui.3_Silent_p.K71K|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Silent_p.K188K|SERPINB6_uc003mum.3_Silent_p.K188K|SERPINB6_uc003mun.3_Silent_p.K188K|SERPINB6_uc003muo.3_Silent_p.K188K	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	188					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CCTTGCTGACTTTAAACAGTC	0.567000											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		246			38		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98478873	98478873	+	Splice_Site	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:98478873C>G	uc003upp.3	+	2	309	c.100_splice	c.e2+1	p.P34_splice	TRRAP_uc011kis.2_Splice_Site_p.P34_splice|MIR3609_uc022ahx.1_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	34					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)			TGTGAATACACGTGAGTTGAT	0.493000														56			6		0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6660113	6660113	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:6660113G>A	uc010sfe.2	-	1	882	c.828C>T	c.(826-828)ctC>ctT	p.L276L	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_5'Flank|IFFO1_uc001qpa.2_5'Flank|IFFO1_uc001qpb.1_5'Flank|IFFO1_uc001qpc.2_Silent_p.L276L|IFFO1_uc001qpf.2_Silent_p.L276L|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_5'Flank	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	276						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TCACCTCCTGGAGCTCATTTA	0.607000														115			16		0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56347173	56347173	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56347173C>T	uc001sij.3	+	22	2367	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	DGKA_uc001sik.3_Silent_p.P701P|DGKA_uc001sil.3_Silent_p.P701P|DGKA_uc001sim.3_Silent_p.P701P|DGKA_uc001sin.3_Silent_p.P701P|DGKA_uc009zof.3_Silent_p.P347P|DGKA_uc001sio.3_Silent_p.P443P	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	701					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.E700D(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACGGAGAACCCTGGATGCAGA	0.468000														230			52		0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897114	11897114	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:11897114C>T	uc001ate.4	+	18	2152	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	CLCN6_uc010oat.2_Missense_Mutation_p.S396F|CLCN6_uc010oau.2_Missense_Mutation_p.S658F	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	680					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGAAGTCCTACCCATCC	0.612000														53			13		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15131315	15131315	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15131315G>A	uc002nae.2	+	2	817	c.718G>A	c.(718-720)Gag>Aag	p.E240K		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	240					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGCTTCAAGGAGCGGCTCCA	0.612000														20			8		0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12863679	12863679	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:12863679G>A	uc002rbv.4	+	2	1999	c.563_splice	c.e2+1	p.R188_splice	TRIB2_uc010yjp.2_Splice_Site_p.R52_splice	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	188	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGAAGAGAGGTAGGTCTCAT	0.532000														47			4		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470004	10470004	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:10470004G>A	uc003wtc.3	-	3	1833	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	535					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGGCTGACGAGTCCGAAGA	0.697000														94			6		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79458176	79458176	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:79458176G>A	uc003hlb.2	+	71	11560	c.11120G>A	c.(11119-11121)tGg>tAg	p.W3707*		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3702					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGAGTACTTTGGAATCCAGAA	0.383000														87			15		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817640	158817640	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158817640C>T	uc001fsz.1	+	5	1310	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	370	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TTCGACTCTTCTGCCTTCAAC	0.428000														108			15		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126774213	126774213	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:126774213G>A	uc003kuh.4	+	17	2549	c.2187G>A	c.(2185-2187)ggG>ggA	p.G729G	MEGF10_uc003kui.4_Silent_p.G729G	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	729	EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				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)		CCTACGATGGGGAATGTAAAT	0.542000														95			13		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4348367	4348367	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4348367C>T	uc002fxt.3	+	2	350	c.306C>T	c.(304-306)ggC>ggT	p.G102G	SPNS3_uc002fxu.3_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	102					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTGTGTTTGGCTACCTGGGCG	0.617000														143			33		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71974164	71974164	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71974164G>A	uc001swl.3	+	15	1561	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	LGR5_uc001swm.3_Missense_Mutation_p.D481N|LGR5_uc021rar.1_Missense_Mutation_p.D433N|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	505						integral to plasma membrane	protein-hormone receptor activity	p.D505N(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGTATGGACGACCTTCATAA	0.408000														190			20		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66713282	66713282	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:66713282G>A	uc001dcn.3	+	3	612	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PDE4B_uc009war.3_Missense_Mutation_p.D49N|PDE4B_uc001dco.3_Missense_Mutation_p.D141N|PDE4B_uc001dcp.3_Missense_Mutation_p.D126N	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	141					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.D141Y(2)|p.D126Y(1)|p.S140S(1)|p.D141V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ATCAGACAGCGACTATGACTT	0.522000														107			21		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616708	77616708	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77616708G>A	uc003yau.2	+	1	772	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	ZFHX4_uc003yat.1_Missense_Mutation_p.G129R|ZFHX4_uc003yaw.1_Missense_Mutation_p.G129R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	129						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)			AAATCTAACAGGGGAGATCGT	0.493000										HNSCC(33;0.089)				56			15		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466292	120466292	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120466292G>A	uc001eik.3	-	25	5124	c.4827C>T	c.(4825-4827)tcC>tcT	p.S1609S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1609	Negative regulatory region (NRR).				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)		CACCAGGAAGGGATCTGCGTG	0.483000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					82			23		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231025	42231025	+	Silent	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42231025G>C	uc003ose.2	-	7	2480	c.1917C>G	c.(1915-1917)ccC>ccG	p.P639P	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Intron	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCCCCTTGGGGTGAGTGTG	0.667000														102			12		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922670	37922670	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37922670G>A	uc002hsu.3	-	7	965	c.903C>T	c.(901-903)acC>acT	p.T301T	IKZF3_uc002htd.3_Silent_p.T267T|IKZF3_uc010cwd.3_Silent_p.T158T|IKZF3_uc002hsv.3_Silent_p.T228T|IKZF3_uc010cwe.3_Silent_p.T167T|IKZF3_uc010cwf.3_Silent_p.T119T|IKZF3_uc010cwg.3_Silent_p.T80T|IKZF3_uc002hsw.3_Silent_p.T262T|IKZF3_uc002hsx.3_Silent_p.T245T|IKZF3_uc002hsy.3_Silent_p.T262T|IKZF3_uc002hsz.3_Silent_p.T206T|IKZF3_uc002hta.3_Silent_p.T223T|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.T214T|IKZF3_uc002htc.3_Silent_p.T54T|IKZF3_uc010wel.2_Silent_p.T54T	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	301					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCATCATGCGGGTCTGTATGA	0.522000														81			6		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43043175	43043175	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43043175G>A	uc002xma.3	+	4	610	c.521G>A	c.(520-522)gGc>gAc	p.G174D	HNF4A_uc002xlt.3_Missense_Mutation_p.G152D|HNF4A_uc002xlu.3_Missense_Mutation_p.G152D|HNF4A_uc002xlv.3_Missense_Mutation_p.G152D|HNF4A_uc002xly.3_Missense_Mutation_p.G174D|HNF4A_uc010ggq.3_Missense_Mutation_p.G167D|HNF4A_uc002xlz.3_Missense_Mutation_p.G174D	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	174					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGATCAACGGCGACATTCGG	0.577000														46			5		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152832157	152832157	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152832157G>A	uc021zhb.1	-	4	614	c.391C>T	c.(391-393)Cta>Tta	p.L131L	SYNE1_uc003qot.4_Silent_p.L138L|SYNE1_uc003qou.4_Silent_p.L131L|SYNE1_uc010kjb.1_Silent_p.L131L|SYNE1_uc003qpa.1_Silent_p.L131L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	131	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			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)		TGGAAATATAGAATAATGGTC	0.378000										HNSCC(10;0.0054)				185			14		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176636777	176636777	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:176636777C>T	uc003mfr.4	+	4	1515	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	NSD1_uc003mft.4_Silent_p.D190D|NSD1_uc003mfs.1_Silent_p.D356D|NSD1_uc011dfx.2_Silent_p.D107D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	459					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CATTTGAAGACTGCACAAATG	0.413000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				60			19		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19465213	19465213	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19465213C>T	uc002nmk.4	+	16	1637	c.1598C>T	c.(1597-1599)cCg>cTg	p.P533L	MAU2_uc002nml.4_Missense_Mutation_p.P138L|MAU2_uc010ecd.3_Missense_Mutation_p.P138L|MAU2_uc010ece.3_Missense_Mutation_p.P109L	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	533					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AGCAAGATCCCGGACATGTCG	0.617000														43			8		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851757	43851757	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43851757C>T	uc010ggz.3	+	1	1541	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	SEMG2_uc002xnk.3_Missense_Mutation_p.S495F|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	495	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGCAGTATTTCTTTCCAAATT	0.383000														37			11		0	0	1	0	0
LIN7C	55327	broad.mit.edu	37	11	27528327	27528327	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:27528327G>A	uc001mrl.3	-	1	1	c.-26_splice	c.e1-1		LIN7C_uc009yii.3_Splice_Site|BDNF-AS_uc009yip.3_5'Flank|BDNF-AS_uc001mrn.3_5'Flank|BDNF-AS_uc001mro.3_5'Flank|BDNF-AS_uc001mrm.3_5'Flank|BDNF-AS_uc009yiq.3_5'Flank|BDNF-AS_uc001mrp.3_5'Flank|BDNF-AS_uc009yij.3_5'Flank|BDNF-AS_uc009yik.3_5'Flank|BDNF-AS_uc009yil.3_5'Flank|BDNF-AS_uc009yin.3_5'Flank|BDNF-AS_uc009yio.3_5'Flank|BDNF-AS_uc009yim.3_5'Flank|BDNF-AS_uc009yir.3_5'Flank|BDNF-AS_uc009yis.3_5'Flank|BDNF-AS_uc009yiu.3_5'Flank|BDNF-AS_uc009yix.3_5'Flank|BDNF-AS_uc009yiy.3_5'Flank|BDNF-AS_uc001mrq.4_5'Flank|BDNF-AS_uc009yiw.3_5'Flank|BDNF-AS_uc009yiz.3_5'Flank|BDNF-AS_uc001mrr.4_5'Flank|BDNF-AS_uc009yit.3_5'Flank|BDNF-AS_uc009yiv.3_5'Flank|BDNF-AS_uc009yja.3_5'Flank|BDNF-AS_uc009yjb.3_5'Flank	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	Homo sapiens lin-7 homolog C (C. elegans) (LIN7C), mRNA.						exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGACCCACAGGAAATGACGAC	0.637000														71			11		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010263	45010264	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:45010263_45010264GG>AA	uc003tmh.2	-	8	1288_1289	c.1144_1145CC>TT	c.(1144-1146)cct>TTt	p.P382F	MYO1G_uc003tmg.2_Missense_Mutation_p.P144F|MYO1G_uc010kym.2_Missense_Mutation_p.P267F|MYO1G_uc003tmi.1_Missense_Mutation_p.P294F|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Missense_Mutation_p.P144F	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	382	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity	p.P382S(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ATCACGCCGAGGATCCCGGCCC	0.599000														85			9		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67125848	67125848	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:67125848G>A	uc002jhw.1	-	6	1011	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	279					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)					AACGAATATGGAAATAATAAA	0.274000														41			5		0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20361531	20361531	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:20361531C>T	uc002gxa.1	-	2	363	c.298G>A	c.(298-300)Gac>Aac	p.D100N	LGALS9B_uc002gwz.1_Missense_Mutation_p.D100N|LGALS9B_uc010vzh.1_Missense_Mutation_p.D12N	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	100	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AAGCAGAGGTCAAAGGGCATC	0.572000														24			8		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673352	141673352	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141673352C>T	uc003vwx.1	-	0	222	c.138G>A	c.(136-138)aaG>aaA	p.K46K		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	46					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTGCCTGCCTCTTCACTACAT	0.488000														80			8		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996947	154996947	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:154996947C>T	uc002tyt.4	+	1	344	c.240C>T	c.(238-240)atC>atT	p.I80I	GALNT13_uc002tyr.4_Silent_p.I80I|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	80						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTTAAAATCAATCAGTTTA	0.363000														36			5		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951203	119951203	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:119951203G>A	uc010inb.3	+	3	1469	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	SYNPO2_uc010ina.3_Missense_Mutation_p.E425K|SYNPO2_uc003icm.4_Missense_Mutation_p.E425K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E353K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	425	Poly-Glu.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGACGAGGAGGAAGAAGGTGA	0.507000														46			10		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36527669	36527669	+	Silent	SNP	C	T	T	rs150394259		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:36527669C>T	uc003cgh.1	+	4	654	c.615C>T	c.(613-615)ttC>ttT	p.F205F	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Silent_p.F144F	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	205					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.F205F(2)|p.R204L(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCCTCCGCTTCGGCACCTCCC	0.552000														179			19		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48668808	48668808	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48668808C>T	uc002irk.1	+	10	2838	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	CACNA1G_uc002iri.1_Silent_p.I822I|CACNA1G_uc002irj.1_Silent_p.I822I|CACNA1G_uc002irl.1_Silent_p.I822I|CACNA1G_uc002irm.1_Silent_p.I822I|CACNA1G_uc002irn.1_Silent_p.I822I|CACNA1G_uc002iro.1_Silent_p.I822I|CACNA1G_uc002irp.1_Silent_p.I822I|CACNA1G_uc002irq.1_Silent_p.I822I|CACNA1G_uc002irr.1_Silent_p.I822I|CACNA1G_uc002irs.1_Silent_p.I822I|CACNA1G_uc002irt.1_Silent_p.I822I|CACNA1G_uc002iru.1_Silent_p.I822I|CACNA1G_uc002irv.1_Silent_p.I822I|CACNA1G_uc002irw.1_Silent_p.I822I|CACNA1G_uc002irx.1_Silent_p.I735I|CACNA1G_uc002iry.1_Silent_p.I735I|CACNA1G_uc002isg.1_Silent_p.I735I|CACNA1G_uc002ish.1_Silent_p.I735I|CACNA1G_uc002isi.1_Silent_p.I735I|CACNA1G_uc002irz.1_Silent_p.I735I|CACNA1G_uc002isa.1_Silent_p.I735I|CACNA1G_uc002isd.1_Silent_p.I735I|CACNA1G_uc002isb.1_Silent_p.I735I|CACNA1G_uc002isc.1_Silent_p.I735I|CACNA1G_uc002ise.1_Silent_p.I735I|CACNA1G_uc002isf.1_Silent_p.I735I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	822					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)	TGTGGGAGATCGTGGGCCAGC	0.697000														9			3		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69097669	69097669	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:69097669C>T	uc011bfx.2	-	1	434	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	TMF1_uc003dnn.3_Missense_Mutation_p.G63R	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	63					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GATTTCAACCCCCAGGTTGAA	0.378000														65			14		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196879431	196879431	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196879431C>T	uc001gtp.3	+	5	957	c.820C>T	c.(820-822)Cca>Tca	p.P274S	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.P273S|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	634	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						TTGTGAGTTTCCAGAAATTCA	0.313000														21			7		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046906	175046906	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175046906G>A	uc001gkl.1	+	1	465	c.352G>A	c.(352-354)Gag>Aag	p.E118K	TNN_uc010pmx.1_Missense_Mutation_p.E118K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	118					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGGAGGAAGAGATGGTGGA	0.557000														44			8		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100411642	100411642	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100411642C>T	uc003uwn.1	-	9	2080	c.1589_splice	c.e9-1	p.E530_splice	EPHB4_uc003uwm.1_Splice_Site_p.E437_splice|EPHB4_uc010lhj.1_Splice_Site_p.E530_splice|EPHB4_uc011kkf.1_Splice_Site_p.R507_splice	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	530					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCCCTCGCTCTCTGCGGAAG	0.607000														96			4		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054151	67054151	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:67054151C>T	uc003dmy.3	+	2	813	c.760C>T	c.(760-762)Cca>Tca	p.P254S	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	254	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAGAAAATTCCACCTCAGTT	0.413000														72			10		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943338	89943338	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:89943338G>A	uc003kju.3	+	16	3142	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1016					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGGGTTCAGGAAGGTGAGAC	0.433000														51			4		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132554083	132554083	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:132554083T>C	uc001ujn.3	+	50	9070	c.8918T>C	c.(8917-8919)gTt>gCt	p.V2973A	EP400_uc021rgq.1_Missense_Mutation_p.V2972A|EP400_uc001ujm.3_Missense_Mutation_p.V2892A|EP400_uc001ujp.3_Missense_Mutation_p.V183A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	3009					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCAGAAGGTTGCCTACGCC	0.637000														108			28		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378150	31378150	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31378150C>T	uc003tch.3	-	1	1086	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	NEUROD6_uc022abi.1_Missense_Mutation_p.E245K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	245					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGTACTTTCATAGAAGGAT	0.473000														56			8		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991579	70991579	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:70991579G>A	uc021rvs.1	-	0	46	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	ADAM20_uc001xme.3_Nonsense_Mutation_p.Q16*	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	0					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGCATGGCTGACCTTTAGGG	0.537000														119			8		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756661	56756661	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56756661G>A	uc010rjp.2	+	0	273	c.273G>A	c.(271-273)ttG>ttA	p.L91L		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAAAGAATTTGATGTTATTTC	0.383000														65			9		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323097	61323097	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61323097G>A	uc002lji.3	-	7	1111	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.L271F	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	323					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						GATAGCACGAGACCGCGGCTC	0.552000														87			17		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38893924	38893924	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38893924A>T	uc021yzh.1	+	73	11165	c.11056A>T	c.(11056-11058)Ata>Tta	p.I3686L	DNAH8_uc003ooe.2_Missense_Mutation_p.I3469L|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCACTCCTCATAGACCCACA	0.413000														115			13		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813721	60813721	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:60813721C>T	uc010dds.3	-	6	1907	c.1622G>A	c.(1621-1623)gGa>gAa	p.G541E	MARCH10_uc010ddr.3_Missense_Mutation_p.G503E|MARCH10_uc002jag.4_Missense_Mutation_p.G503E|MARCH10_uc002jah.2_Missense_Mutation_p.G502E|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.	503							ligase activity|zinc ion binding	p.V541F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCCTGAGTTTCCCTCTGAGTC	0.433000														79			7		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091591	16091592	+	Missense_Mutation	DNP	GG	AA	AA	rs146575757	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16091591_16091592GG>AA	uc001axd.1	+	3	556_557	c.113_114GG>AA	c.(112-114)cgg>cAA	p.R38Q	FBLIM1_uc001axe.1_Missense_Mutation_p.R38Q|FBLIM1_uc001axg.1_Missense_Mutation_p.R38Q|FBLIM1_uc001axh.1_Missense_Mutation_p.R38Q|FBLIM1_uc001axi.1_Missense_Mutation_p.R38Q	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	38	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TGTGAGGCCCGGCGTGGCCGCC	0.693000														65			21		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202675	39202675	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:39202675G>A	uc003jls.3	-	0	455	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	FYB_uc003jlt.3_Missense_Mutation_p.P130S|FYB_uc003jlu.3_Missense_Mutation_p.P130S|FYB_uc011cpl.2_Missense_Mutation_p.P140S	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	130					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGAGGCCAGGGAAATGTAGGT	0.517000														67			23		0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37690635	37690635	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:37690635G>A	uc003xkj.3	+	8	1591	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	GPR124_uc010lvy.3_Missense_Mutation_p.R402Q	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	402					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCTCCCGCCGGTGTGACCGT	0.662000														78			9		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786575	113786575	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113786575C>T	uc002tiq.1	-	3	306	c.202G>A	c.(202-204)Gga>Aga	p.G68R	IL36B_uc002tir.1_Missense_Mutation_p.G68R	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	68					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AGATCTTTTCCCTTGATTCCC	0.413000														64			13		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2156476	2156476	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2156476G>A	uc002cos.1	-	17	7621	c.7412C>T	c.(7411-7413)cCg>cTg	p.P2471L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.P2471L|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2471	REJ.		P -> L (in ADPKD1).		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						GCCCCCCAGCGGCGGGCGGTT	0.711000														15			6		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172775	5172775	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5172775G>A	uc010qyy.2	-	0	825	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	275					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAATATGGATATAAGGGG	0.433000														80			8		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322528	134322528	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:134322528C>T	uc010hty.3	-	10	1941	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Missense_Mutation_p.G606R	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	0						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGCTTCCCTCCCAGTAG	0.517000														98			28		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725924	55725924	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:55725924C>T	uc021tio.1	+	4	929	c.878C>T	c.(877-879)gCc>gTc	p.A293V	SLC6A2_uc002eif.3_Missense_Mutation_p.A293V|SLC6A2_uc002eig.3_Missense_Mutation_p.A293V|SLC6A2_uc002eii.3_Missense_Mutation_p.A188V|SLC6A2_uc002eij.3_Intron	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	293					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGCATCAATGCCTACCTGCAC	0.597000														58			6		0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23508151	23508151	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:23508151T>C	uc003swg.3	-	1	452	c.186A>G	c.(184-186)gaA>gaG	p.E62E	IGF2BP3_uc003swh.1_Non-coding_Transcript	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	62	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.E62*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCCCGTGCAGTTCTATTTTAC	0.557000														146			35		0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58471423	58471423	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:58471423C>T	uc002aez.2	+	4	949	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L133F	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	198					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGCCATCGGCCTCCTGATTAT	0.552000														33			6		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117035910	117035910	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117035910C>T	uc011mtp.2	-	7	1509	c.1376_splice	c.e7-1	p.P459_splice	KLHL13_uc004eqk.3_Splice_Site_p.P405_splice|KLHL13_uc004eql.3_Splice_Site_p.P456_splice|KLHL13_uc011mtn.2_Splice_Site_p.P296_splice|KLHL13_uc011mto.2_Splice_Site_p.P450_splice|KLHL13_uc011mtq.2_Splice_Site_p.P440_splice|KLHL13_uc004eqm.3_Splice_Site_p.P414_splice|KLHL13_uc022cde.1_Splice_Site_p.P440_splice	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	456					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						TCTACTGTGGCTGTTAAAAAA	0.323000														29			22		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100626668	100626668	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:100626668C>T	uc010nno.2	-	3	597	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	BTK_uc004ehg.2_Missense_Mutation_p.E88K|BTK_uc010nnn.2_Missense_Mutation_p.E88K|BTK_uc004ehi.3_Missense_Mutation_p.E88K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	88	PH.				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						TGCTCCATTTCACTGGACTCT	0.373000									Agammaglobulinemia, X-linked					69			24		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287786	46287786	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:46287786G>A	uc001van.1	+	2	706	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	SPERT_uc001vao.2_Missense_Mutation_p.R173Q	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	209						cytoplasmic membrane-bounded vesicle		p.R209Q(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TCGCTGGGCCGAGAGGAGAGC	0.652000														49			6		0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80391650	80391650	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:80391650C>T	uc002kev.4	+	4	815	c.399C>T	c.(397-399)gtC>gtT	p.V133V	HEXDC_uc002kew.3_Silent_p.V133V|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	133					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTGACCAGGTCCTGGAGCTAC	0.662000														46			4		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48259088	48259088	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:48259088G>A	uc003toq.2	+	3	449	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	ABCA13_uc003top.2_Missense_Mutation_p.R142Q|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	142					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						TGGGTAGAACGATCCAACACT	0.433000														119			24		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936573	30936573	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:30936573G>A	uc002nsu.1	+	1	2242	c.2104G>A	c.(2104-2106)Ggc>Agc	p.G702S	ZNF536_uc010edd.1_Missense_Mutation_p.G702S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGGGTCGGAGGCGGCCTCTC	0.687000														38			3		0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6415810	6415810	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6415810C>T	uc001mcw.3	+	5	2054	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	SMPD1_uc021qcz.1_3'UTR|SMPD1_uc001mcv.2_Non-coding_Transcript|SMPD1_uc009yew.3_Silent_p.S622S|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	621					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	AGGCCCAGAGCCTGTGGCCAA	0.597000														39			10		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69772846	69772846	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:69772846C>T	uc010kak.3	+	14	2630	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F	BAI3_uc003pev.4_Missense_Mutation_p.S785F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	785					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTCATTAATTCCAAAATCATC	0.358000														36			7		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989305	53989305	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:53989305G>A	uc011dxa.2	+	2	320	c.287G>A	c.(286-288)gGg>gAg	p.G96E	MLIP_uc003pcf.2_Missense_Mutation_p.G85E|MLIP_uc003pcg.4_Missense_Mutation_p.G85E|MLIP_uc003pch.4_Missense_Mutation_p.G23E|MLIP_uc011dwz.1_Missense_Mutation_p.G44E	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	85						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTGAATGCTGGGAGCCAACAA	0.383000														63			8		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347172	71347172	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:71347172C>T	uc011cat.2	+	3	999	c.711C>T	c.(709-711)gcC>gcT	p.A237A	MUC7_uc011cau.2_Silent_p.A237A|MUC7_uc003hfj.3_Silent_p.A237A	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	237	Thr-rich.					extracellular region	protein binding	p.A237V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACAGCTGCCCCACCCACAC	0.592000														89			8		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213183	9213183	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9213183G>A	uc010xkk.2	-	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	246					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						GAGAACAATGGAGAGGTGAGA	0.463000														64			9		0	0	1	0	0
C18orf62	284274	broad.mit.edu	37	18	73130745	73130745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:73130745G>A	uc002lma.1	-	1	327	c.256C>T	c.(256-258)Cga>Tga	p.R86*	C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	86						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		acctactttcgaaatatgctg	0.353000														75			12		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35207556	35207556	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35207556G>A	uc003okf.1	+	7	863	c.857G>A	c.(856-858)gGg>gAg	p.G286E	SCUBE3_uc003okg.1_Missense_Mutation_p.G285E|SCUBE3_uc003okh.1_Missense_Mutation_p.G173E	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	286	EGF-like 7; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TTAAACAACGGGGGCTGTGAC	0.463000														87			20		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529097	138529097	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138529097G>A	uc011kql.2	-	17	5466	c.5417C>T	c.(5416-5418)tCg>tTg	p.S1806L	KIAA1549_uc011kqi.2_Missense_Mutation_p.S590L|KIAA1549_uc011kqk.2_Missense_Mutation_p.S590L|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1806L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1806						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGCCACCGACGGCATCTC	0.572000			O	BRAF	pilocytic astrocytoma									37			8		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391252	139391252	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:139391252C>T	uc004chz.3	-	33	6939	c.6939G>A	c.(6937-6939)cgG>cgA	p.R2313R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2313					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTCTGCAGCCGGGACAGCC	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				53			13		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623647	100623647	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:100623647C>T	uc002taf.3	-	4	669	c.525G>A	c.(523-525)aaG>aaA	p.K175K	AFF3_uc002tag.3_Silent_p.K150K|AFF3_uc010fiq.1_Silent_p.K150K|AFF3_uc010yvr.1_Silent_p.K304K|AFF3_uc002tah.1_Silent_p.K175K|AFF3_uc010fir.1_Silent_p.K227K	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	150					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						GGTGCCCAGCCTTCTGCCAGC	0.537000														62			4		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128841	152128841	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152128841C>T	uc001ezs.1	-	2	799	c.734G>A	c.(733-735)aGa>aAa	p.R245K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	245	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						TTGTGTATGTCTTTCAGACTG	0.423000														185			23		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652477	31652477	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31652477C>T	uc002wym.1	+	7	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	250					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.I250I(1)									TGCAGCCTATCGTGAAGAGTG	0.607000														42			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086684	9086684	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9086684C>T	uc002mkp.3	-	0	5335	c.5131G>A	c.(5131-5133)Gga>Aga	p.G1711R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1711	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						TCTGTGACTCCTTCAGTAGTT	0.498000														134			8		0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120240735	120240735	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:120240735C>T	uc003icw.3	-	2	363	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	102							fatty acid binding	p.E102K(2)|p.N101N(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						GTATTCAGTTCGTTTCCATTG	0.308000														39			6		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440626	78440626	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:78440626C>T	uc001ozl.4	-	21	3664	c.3201G>A	c.(3199-3201)cgG>cgA	p.R1067R		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1067					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGCCAGGGGTCCGGCTGCTCA	0.582000														55			4		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56345060	56345060	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56345060G>A	uc001niz.1	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGATCAGCAGGATCATGCACA	0.473000														79			6		0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172196657	172196657	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:172196657G>A	uc003mbv.2	-	2	902	c.654C>T	c.(652-654)taC>taT	p.Y218Y	DUSP1_uc003mbu.2_Silent_p.Y106Y	NM_004417	NP_004408	P28562	DUS1_HUMAN	Homo sapiens dual specificity phosphatase 1 (DUSP1), mRNA.	218	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TCTTGTACTGGTAGTGACCCT	0.522000														114			19		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528533	9528533	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:9528533G>A	uc002qzh.2	+	21	2581	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	ASAP2_uc002qzi.2_Silent_p.K747K	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	747					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACCTTGCCAAGGAGAAGCAGA	0.602000														58			5		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117727237	117727237	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117727237C>T	uc004eqp.2	+	19	2263	c.2200C>T	c.(2200-2202)Cat>Tat	p.H734Y	DOCK11_uc004eqq.2_Missense_Mutation_p.H500Y	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	734	DHR-1.				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						CACTTTTTATCATGTAAGTTG	0.333000														44			8		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224890	42224890	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42224890C>T	uc002orl.3	+	7	1941	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	CEACAM5_uc002orj.1_Missense_Mutation_p.S606L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	607	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		p.S607L(4)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCTTACCTTTCGGGAGCGAAC	0.547000														157			24		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57925811	57925811	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:57925811G>A	uc002aei.3	+	8	936	c.805_splice	c.e8-1	p.E269_splice	GCOM1_uc002aej.3_Splice_Site_p.E269_splice|GCOM1_uc002aek.3_Splice_Site|GCOM1_uc002ael.3_Splice_Site|GCOM1_uc002aem.3_Splice_Site_p.E269_splice|GCOM1_uc002aep.3_Splice_Site|GCOM1_uc010bfx.3_Splice_Site|GCOM1_uc002aeq.3_Splice_Site|GCOM1_uc002aen.3_Splice_Site|GCOM1_uc010bfy.3_Splice_Site|GCOM1_uc002aeo.3_Splice_Site_p.E269_splice	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	269					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TCTTTTGCAGGAAGAAACCAA	0.463000														75			7		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804643	27804643	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:27804643A>G	uc002rkz.4	+	0	5255	c.5204A>G	c.(5203-5205)cAc>cGc	p.H1735R	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1735	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCACAGTCCCTCT	0.552000														260			6		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5345040G>A	uc001mao.1	-	0	543	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000														64			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446711	179446711	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179446711G>A	uc021vsy.1	-	263	58906	c.58681C>T	c.(58681-58683)Cgt>Tgt	p.R19561C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R13256C|TTN_uc021vta.1_Missense_Mutation_p.R13189C|TTN_uc021vtb.1_Missense_Mutation_p.R13064C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20488	Ig-like 109.						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)			GCTGTAACACGGAACTCATAT	0.448000														89			9		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	2	174055896	174055896	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:174055896C>T	uc002uhz.3	+	6	773	c.573C>T	c.(571-573)tcC>tcT	p.S191S	RCAN2_uc002uhx.3_Silent_p.S191S|RCAN2_uc002uhy.3_Silent_p.S191S|RCAN2_uc010zei.2_Silent_p.S90S	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACACATATTCCTATGGTGTGG	0.378000														57			4		0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536410	44536410	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44536410C>T	uc002oye.3	+	3	798	c.703C>T	c.(703-705)Cac>Tac	p.H235Y	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Missense_Mutation_p.H195Y|ZNF222_uc002oyd.3_Missense_Mutation_p.H141Y	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	195					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)				TCAAAGAGTCCACACTGGAGA	0.423000														142			20		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043303	117043303	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117043303G>A	uc011mtp.2	-	5	1469	c.1336C>T	c.(1336-1338)Ctg>Ttg	p.L446L	KLHL13_uc004eqk.3_Silent_p.L392L|KLHL13_uc004eql.3_Silent_p.L443L|KLHL13_uc011mtn.2_Silent_p.L283L|KLHL13_uc011mto.2_Silent_p.L437L|KLHL13_uc011mtq.2_Silent_p.L427L|KLHL13_uc004eqm.3_Silent_p.L401L|KLHL13_uc022cde.1_Silent_p.L427L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	443					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						ACTGCATACAGATATCCTTTG	0.388000														24			7		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033623	82033623	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:82033623C>T	uc002fgu.3	-	2	403	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	92					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.R92*(1)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						GATCAGGTTTCGATTGAGTTG	0.502000														80			18		0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297776	12297776	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:12297776C>T	uc002mti.3	+	3	730	c.583C>T	c.(583-585)Cca>Tca	p.P195S	ZNF136_uc010xmh.2_Missense_Mutation_p.P129S	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	195					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.T194A(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TGGATATACACCATATAAATG	0.378000														38			12		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75704243	75704243	+	Missense_Mutation	SNP	C	T	T	rs149353208		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75704243C>T	uc010oqz.1	-	8	794	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC44A5_uc001dgt.2_Missense_Mutation_p.G204E|SLC44A5_uc001dgs.2_Missense_Mutation_p.G162E|SLC44A5_uc001dgr.2_Missense_Mutation_p.G162E|SLC44A5_uc001dgu.3_Missense_Mutation_p.G204E|SLC44A5_uc010ora.2_Missense_Mutation_p.G198E|SLC44A5_uc010orb.2_Missense_Mutation_p.G74E	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	204						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.G204E(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCTCCATTTCCATCTTGAAA	0.343000														71			6		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021885	120021885	+	Silent	SNP	G	A	A	rs150476989	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:120021885G>A	uc003ksq.3	+	1	559	c.396G>A	c.(394-396)gtG>gtA	p.V132V	PRR16_uc003ksp.3_Silent_p.V109V|PRR16_uc003ksr.3_Silent_p.V62V	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	132	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TGACACCTGTGAAGTGTGAAG	0.512000														63			7		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102124531	102124531	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:102124531C>T	uc003pqp.4	+	3	868	c.575C>T	c.(574-576)cCa>cTa	p.P192L	GRIK2_uc021zdj.1_Missense_Mutation_p.P192L|GRIK2_uc003pqn.3_Missense_Mutation_p.P192L|GRIK2_uc010kcw.3_Missense_Mutation_p.P192L|GRIK2_uc003pqo.4_Missense_Mutation_p.P192L|GRIK2_uc021zdk.1_Missense_Mutation_p.P192L|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	192					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATCAAAGCTCCATCAAGGTAT	0.333000														40			3		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38808492	38808492	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:38808492T>G	uc001zke.4	-	5	759	c.581A>C	c.(580-582)aAa>aCa	p.K194T	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.K56T|RASGRP1_uc010bbg.3_Missense_Mutation_p.K56T|RASGRP1_uc001zkd.4_Missense_Mutation_p.K194T	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	194					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GACTTTCCGTTTCTTGCTGGT	0.463000														47			12		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69871315	69871315	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69871315C>T	uc004dyl.3	-	17	1675	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	TEX11_uc004dyk.3_Missense_Mutation_p.G180S|TEX11_uc004dym.3_Missense_Mutation_p.G490S	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	505							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCAGAGTTGCCCTCTATGACT	0.353000														16			7		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3648694	3648694	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3648694G>A	uc002lyj.2	-	8	1229	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	PIP5K1C_uc010xhq.2_Silent_p.I380I|PIP5K1C_uc010xhr.2_Silent_p.I380I	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	380	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCACAGCGGGGATCCCGCCCA	0.682000														61			10		0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508147	144508147	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:144508147C>T	uc003qks.4	+	1	575	c.383C>T	c.(382-384)tCg>tTg	p.S128L	STX11_uc021zgk.1_Missense_Mutation_p.S128L	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	128					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCGCGCATTTCGCGGGCGCAG	0.672000									Familial Hemophagocytic Lymphohistiocytosis					23			7		0	0	1	0	0
C1orf9	51430	broad.mit.edu	37	1	172558946	172558946	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:172558946G>A	uc001giq.4	+	17	3021	c.2705G>A	c.(2704-2706)gGa>gAa	p.G902E	C1orf9_uc010pmm.1_Missense_Mutation_p.G902E|C1orf9_uc009wwd.3_Missense_Mutation_p.G858E|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	902					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TATGCTAATGGAAATCTTGTA	0.373000														82			17		0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130460844	130460844	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:130460844C>T	uc003qbt.3	+	22	2465	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	L3MBTL3_uc003qbu.3_Silent_p.F738F	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	763	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCAAAATTTTCAATTCCATCC	0.363000														43			9		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683158	218683158	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:218683158G>A	uc002vgt.2	-	23	3983	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	TNS1_uc002vgr.2_Silent_p.F1182F|TNS1_uc002vgs.2_Silent_p.F1174F|TNS1_uc010zjv.1_Silent_p.F1174F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1195						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCGCCAGCCGAAGCCAGGAC	0.637000														70			4		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996561	140996561	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140996561C>T	uc004fbt.3	+	3	3695	c.3371C>T	c.(3370-3372)tCg>tTg	p.S1124L	MAGEC1_uc010nsl.2_Missense_Mutation_p.S191L|MAGEC1_uc022cfi.1_Missense_Mutation_p.S783L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1124							protein binding	p.S1124*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGATGATTCGACTGCCACA	0.483000										HNSCC(15;0.026)				60			31		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789973	248789973	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248789973C>T	uc001ier.1	-	0	457	c.457G>A	c.(457-459)Ggc>Agc	p.G153S		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCAGAAAGCCATCGAGGGAG	0.527000														57			15		0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128846078	128846078	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:128846078C>T	uc003vor.3	+	4	1288	c.1008C>T	c.(1006-1008)acC>acT	p.T336T	SMO_uc003vos.3_Silent_p.T11T	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	336					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGTCCTCACCTATGCCTGGC	0.562000			Mis		skin basal cell									210			20		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6029562	6029562	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:6029562G>A	uc003spl.3	-	9	1100	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	PMS2_uc003spj.3_Missense_Mutation_p.P232L|PMS2_uc003spk.3_Missense_Mutation_p.P203L|PMS2_uc011jwl.2_Missense_Mutation_p.P203L|PMS2_uc010ktg.3_Missense_Mutation_p.P27L|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.P338L	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	338					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCTTTTATCTGGAGTAACATT	0.269000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					28			3		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629998	47629998	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:47629998C>T	uc001rpq.3	+	1	1677	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	FAM113B_uc001rpn.3_Silent_p.F384F|FAM113B_uc021qxi.1_Silent_p.F384F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	384	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TGCCCTTCTTCCCCACACCCC	0.562000														80			25		0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15417984	15417984	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrY:15417984C>A	uc022ckf.1	-	22	4355	c.3350G>T	c.(3349-3351)aGg>aTg	p.R1117M	UTY_uc004fsw.1_Missense_Mutation_p.R683M|UTY_uc022cjk.1_Intron|UTY_uc022cjp.1_Missense_Mutation_p.R768M|UTY_uc022ckv.1_Missense_Mutation_p.R1036M|UTY_uc022cjq.1_Missense_Mutation_p.R461M|UTY_uc022ckw.1_Missense_Mutation_p.R1049M|UTY_uc022cjr.1_Missense_Mutation_p.R880M|UTY_uc022ckx.1_Missense_Mutation_p.R1020M|UTY_uc022cjs.1_Missense_Mutation_p.R1004M|UTY_uc022cky.1_Missense_Mutation_p.R848M|UTY_uc022cjt.1_Missense_Mutation_p.R768M|UTY_uc022ckz.1_Missense_Mutation_p.R853M|UTY_uc022cju.1_Non-coding_Transcript|UTY_uc022cla.1_Missense_Mutation_p.R456M|UTY_uc022cjv.1_Missense_Mutation_p.R937M|UTY_uc022clb.1_Missense_Mutation_p.R689M|UTY_uc022cjw.1_Missense_Mutation_p.R1062M|UTY_uc022cjx.1_Missense_Mutation_p.R993M|UTY_uc022cjy.1_Missense_Mutation_p.R502M|UTY_uc022cjz.1_Missense_Mutation_p.R941M|UTY_uc022cka.1_Intron|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_Missense_Mutation_p.R565M|UTY_uc022cke.1_Non-coding_Transcript|UTY_uc022ckg.1_Missense_Mutation_p.R1065M|UTY_uc022ckh.1_Missense_Mutation_p.R768M|UTY_uc022cki.1_Missense_Mutation_p.R1050M|UTY_uc022ckj.1_Missense_Mutation_p.R1072M|UTY_uc022ckk.1_Missense_Mutation_p.R896M|UTY_uc022ckl.1_Missense_Mutation_p.R456M|UTY_uc022ckm.1_Missense_Mutation_p.R971M|UTY_uc022ckn.1_Missense_Mutation_p.R1036M|UTY_uc022cko.1_Missense_Mutation_p.R941M|UTY_uc022ckp.1_Missense_Mutation_p.R941M|UTY_uc004fsx.1_Missense_Mutation_p.R1020M|UTY_uc022ckq.1_Missense_Mutation_p.R1065M|UTY_uc022cjl.1_Missense_Mutation_p.R565M|UTY_uc022ckr.1_Missense_Mutation_p.R666M|UTY_uc022cjm.1_Intron|UTY_uc022cks.1_Missense_Mutation_p.R896M|UTY_uc022cjn.1_Missense_Mutation_p.R689M|UTY_uc022ckt.1_Missense_Mutation_p.R1020M|UTY_uc022cjo.1_Missense_Mutation_p.R808M|UTY_uc022cku.1_Missense_Mutation_p.R768M|UTY_uc022clc.1_Missense_Mutation_p.R1050M|UTY_uc022cld.1_Missense_Mutation_p.R912M|UTY_uc022cle.1_Missense_Mutation_p.R837M|UTY_uc022clf.1_Missense_Mutation_p.R896M|UTY_uc022clg.1_Missense_Mutation_p.R768M|UTY_uc022clh.1_Missense_Mutation_p.R987M|UTY_uc022cli.1_Missense_Mutation_p.R1036M|UTY_uc022clj.1_Missense_Mutation_p.R784M|UTY_uc022clk.1_Intron|UTY_uc022cll.1_Missense_Mutation_p.R821M|UTY_uc022clm.1_Missense_Mutation_p.R672M|UTY_uc022cln.1_Missense_Mutation_p.R808M|UTY_uc022clo.1_Intron|UTY_uc022clp.1_Missense_Mutation_p.R848M|UTY_uc022clq.1_Missense_Mutation_p.R990M|UTY_uc004fsy.3_Missense_Mutation_p.R1020M|UTY_uc022clr.1_Missense_Mutation_p.R768M|UTY_uc022cls.1_Missense_Mutation_p.R1049M|UTY_uc022clt.1_Missense_Mutation_p.R768M|UTY_uc022clu.1_Missense_Mutation_p.R1004M|UTY_uc022clv.1_Missense_Mutation_p.R813M|UTY_uc022clw.1_Missense_Mutation_p.R1095M|UTY_uc022clx.1_Missense_Mutation_p.R1117M|UTY_uc022cly.1_Missense_Mutation_p.R1065M|UTY_uc022clz.1_Missense_Mutation_p.R768M|UTY_uc022cjj.1_5'UTR	NM_007125	NP_009056	O14607	UTY_HUMAN	Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA.	1020	JmjC.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TTTCCTTCTCCTTCCAGAACT	0.358000														15			3		6.4e-05	6.44256e-05	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88965935	88965935	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:88965935C>T	uc011khi.2	+	3	4177	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1213						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCACACGTTCCTGCAGCATT	0.493000										HNSCC(36;0.09)				123			16		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312408	68312409	+	Silent	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68312408_68312409CC>TT	uc001onv.3	+	3	597_598	c.330_331CC>TT	c.(328-333)ctccta>ctTTta	p.110_111LL>LL	PPP6R3_uc010rqb.1_Silent_p.19_20LL>LL|PPP6R3_uc001onw.3_Silent_p.110_111LL>LL|PPP6R3_uc001ony.4_Silent_p.110_111LL>LL|PPP6R3_uc001onx.3_Silent_p.110_111LL>LL|PPP6R3_uc009ysh.3_Silent_p.110_111LL>LL|PPP6R3_uc001onu.3_Silent_p.110_111LL>LL|PPP6R3_uc010rqc.2_Silent_p.19_20LL>LL	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	110					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATAGCTTCCTCCTAAACGATTC	0.381000														57			6		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275491	130275491	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:130275491C>T	uc001qgg.4	-	8	2990	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N	ADAMTS8_uc001qgf.3_Missense_Mutation_p.D359N	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	878	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGCTTGGCATCCTCGGGTTTC	0.652000														72			11		0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361366	51361366	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51361366C>T	uc021uyi.1	+	2	329	c.288C>T	c.(286-288)ttC>ttT	p.F96F	KLK3_uc002pts.1_Silent_p.F96F|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	96	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCACAGCTTCCCACACCCGC	0.577000														28			4		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174936162	174936162	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:174936162C>T	uc003mda.2	+	2	430	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	SFXN1_uc003mdb.1_Missense_Mutation_p.P37S	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	98					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCCCAGGTTCCCATGAACAT	0.378000														110			18		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60213053	60213053	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:60213053C>T	uc001xen.1	-	1	597	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	130					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGCCATTTTCCTTCTGAAGA	0.478000														24			10		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123514580	123514580	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:123514580C>T	uc010nqy.3	-	31	8069	c.8005G>A	c.(8005-8007)Gaa>Aaa	p.E2669K	ODZ1_uc011muj.2_Missense_Mutation_p.E2668K|ODZ1_uc004euj.3_Missense_Mutation_p.E2662K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2662					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						CTTCTTTGTTCCTTAGTCCAG	0.547000														127			21		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825559	131825559	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:131825559C>T	uc003vra.4	-	29	5466	c.5237G>A	c.(5236-5238)aGg>aAg	p.R1746K	PLXNA4_uc003vqz.4_Missense_Mutation_p.R31K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1746						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACCCAAAACCTCAGGGGCAG	0.557000														89			6		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2578366	2578366	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2578366G>A	uc003smi.3	-	13	2091	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	BRAT1_uc003smh.4_Silent_p.S33S	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	601					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCGAGTCTACGGAGAGGATGT	0.672000														51			7		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356235	10356235	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10356235C>T	uc002gmn.3	-	24	3237	c.3126G>A	c.(3124-3126)ctG>ctA	p.L1042L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1042					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						TTTCTTGTTCCAGAGATCCTT	0.358000														85			13		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129172423	129172423	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:129172423C>T	uc010qun.2	+	34	3684	c.3620C>T	c.(3619-3621)aCc>aTc	p.T1207I	DOCK1_uc001ljt.3_Missense_Mutation_p.T1186I|DOCK1_uc009yaq.3_Missense_Mutation_p.T181I	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1186	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GATTATAGAACCATCATGCAC	0.438000														14			4		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695653	48695653	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48695653C>T	uc002irk.1	+	31	5748	c.5376C>T	c.(5374-5376)ttC>ttT	p.F1792F	CACNA1G_uc002irj.1_Silent_p.F1758F|CACNA1G_uc002irl.1_Silent_p.F1769F|CACNA1G_uc002irm.1_Silent_p.F1758F|CACNA1G_uc002irn.1_Silent_p.F1751F|CACNA1G_uc002iro.1_Silent_p.F1758F|CACNA1G_uc002irp.1_Silent_p.F1792F|CACNA1G_uc002irq.1_Silent_p.F1769F|CACNA1G_uc002irr.1_Silent_p.F1792F|CACNA1G_uc002irs.1_Silent_p.F1781F|CACNA1G_uc002irt.1_Silent_p.F1774F|CACNA1G_uc002iru.1_Silent_p.F1758F|CACNA1G_uc002irv.1_Silent_p.F1781F|CACNA1G_uc002irw.1_Silent_p.F1769F|CACNA1G_uc002irx.1_Silent_p.F1705F|CACNA1G_uc002iry.1_Silent_p.F1694F|CACNA1G_uc002isg.1_Silent_p.F1653F|CACNA1G_uc002ish.1_Silent_p.F1660F|CACNA1G_uc002isi.1_Silent_p.F1648F|CACNA1G_uc002irz.1_Silent_p.F1698F|CACNA1G_uc002isa.1_Silent_p.F1671F|CACNA1G_uc002isd.1_Silent_p.F1680F|CACNA1G_uc002isb.1_Silent_p.F1712F|CACNA1G_uc002isc.1_Silent_p.F1694F|CACNA1G_uc002ise.1_Silent_p.F1660F|CACNA1G_uc002isf.1_Silent_p.F1687F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1792					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)	GCATGGCCTTCCTAACCCTCT	0.607000														83			7		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320385	152320385	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:152320385C>A	uc002txm.3	+	29	4512	c.4351C>A	c.(4351-4353)Ctt>Att	p.L1451I	RIF1_uc002txn.3_Missense_Mutation_p.L1451I|RIF1_uc002txl.3_Missense_Mutation_p.L1451I|RIF1_uc002txo.3_Missense_Mutation_p.L1451I|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1451					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAAAAACCTCTTCAGAAGAG	0.358000														47			14		4.3838e-07	4.42339e-07	1	1	0
TMIE	259236	broad.mit.edu	37	3	46751177	46751177	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:46751177G>A	uc010hjk.1	+	3	625	c.470G>A	c.(469-471)tGa>tAa	p.*157*	TMIE_uc010hjj.1_3'UTR	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN	Homo sapiens transmembrane inner ear (TMIE), mRNA.	0						integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GGAGAGAAATGAAGACATCCT	0.542000														26			3		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563715	140563715	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140563715C>T	uc003liv.3	+	0	2736	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGGAGTTCGAGTTCCGCG	0.687000														119			15		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279168	47279168	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47279168G>A	uc001cqn.4	+	4	594	c.510G>A	c.(508-510)gaG>gaA	p.E170E	CYP4B1_uc009vyl.1_Silent_p.E7E|CYP4B1_uc001cqm.4_Silent_p.E170E|CYP4B1_uc009vym.3_Silent_p.E155E|CYP4B1_uc010omk.2_Silent_p.E7E|CYP4B1_uc010oml.1_Silent_p.E7E	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	170					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGTGGGAAGAGAAAGCTCGGG	0.577000														36			7		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854438	18854438	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18854438C>T	uc021qvx.1	-	8	1205	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	PLCZ1_uc001rdv.4_Silent_p.K234K|PLCZ1_uc001rdw.4_Silent_p.K79K|PLCZ1_uc001rdu.1_Silent_p.K120K|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	338					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)					ACCTCACCTTCTTTTTCTTGA	0.308000														39			7		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71886027	71886027	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:71886027C>T	uc010fen.3	+	43	4916	c.4775C>T	c.(4774-4776)cCc>cTc	p.P1592L	DYSF_uc010fei.3_Missense_Mutation_p.P1570L|DYSF_uc010feh.3_Missense_Mutation_p.P1560L|DYSF_uc002sig.4_Missense_Mutation_p.P1539L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1584L|DYSF_uc010fee.3_Missense_Mutation_p.P1574L|DYSF_uc010fef.3_Missense_Mutation_p.P1591L|DYSF_uc002sie.3_Missense_Mutation_p.P1553L|DYSF_uc010feo.3_Missense_Mutation_p.P1585L|DYSF_uc010fej.3_Missense_Mutation_p.P1561L|DYSF_uc010fel.3_Missense_Mutation_p.P1540L|DYSF_uc010fem.3_Missense_Mutation_p.P1575L|DYSF_uc002sif.3_Missense_Mutation_p.P1554L|DYSF_uc010fek.3_Missense_Mutation_p.P1571L|DYSF_uc010yqy.2_Missense_Mutation_p.P434L|DYSF_uc010yqz.2_Missense_Mutation_p.P314L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1553	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.Q1591H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAAATTTATCCCCTCCCAGAA	0.502000														87			9		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59851870	59851870	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:59851870G>A	uc003xtw.1	-	2	623	c.402C>T	c.(400-402)tcC>tcT	p.S134S		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	134						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCACAGAAATGGAATTAGAAA	0.473000														63			17		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011429	78011429	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:78011429G>A	uc022bzj.1	+	0	1063	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	LPAR4_uc010nme.3_Missense_Mutation_p.D355N	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	355						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GGAAGTGAGTGATCAAACAAC	0.398000														57			15		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810815	123810815	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123810815C>T	uc001pzk.1	+	0	492	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		CATTGACTATCCAGCTGCCAT	0.483000														62			5		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655925	153655925	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153655925G>A	uc001fcs.4	+	5	1758	c.1337G>A	c.(1336-1338)gGg>gAg	p.G446E	NPR1_uc010pdz.2_Missense_Mutation_p.G192E|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	446					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGCCCCTGGGGTACCCTCCT	0.577000														59			4		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811151	5811151	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:5811151C>T	uc010ndi.3	-	6	2733	c.2269G>A	c.(2269-2271)Gat>Aat	p.D757N	NLGN4X_uc004crp.3_Missense_Mutation_p.D740N|NLGN4X_uc010ndh.3_Missense_Mutation_p.D720N|NLGN4X_uc004crq.3_Missense_Mutation_p.D720N|NLGN4X_uc004crr.3_Missense_Mutation_p.D720N|NLGN4X_uc010ndj.3_Missense_Mutation_p.D720N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	720					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						TGAGCGATATCATTTGTGGTG	0.522000														40			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431264	135431264	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135431264C>T	uc004ezu.1	+	5	5690	c.5399C>T	c.(5398-5400)tCc>tTc	p.S1800F	GPR112_uc010nsb.1_Missense_Mutation_p.S1595F|GPR112_uc010nsc.1_Missense_Mutation_p.S1567F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1800					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)					AAGATGACTTCCTTGTTAGAA	0.408000														70			22		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399289	10399289	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10399289C>T	uc002gmo.3	-	34	5241	c.5147G>A	c.(5146-5148)cGt>cAt	p.R1716H	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1716			R -> C (in dbSNP:rs1077841).			muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGCTGAACACGCTCACTGGC	0.488000														46			12		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148252002	148252002	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:148252002C>T	uc001erd.4	-	18	2548	c.2477G>A	c.(2476-2478)aGa>aAa	p.R826K	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Intron|NBPF14_uc021owj.1_Missense_Mutation_p.R472K|NBPF14_uc021owk.1_Missense_Mutation_p.R228K|NBPF14_uc021owl.1_Missense_Mutation_p.R716K|NBPF14_uc001erb.3_Missense_Mutation_p.R440K|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc010paj.2_Missense_Mutation_p.R325K			Q5TI25	NBPFE_HUMAN	SubName: Full=Uncharacterized protein;	467	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAACACACTTCTGTAGTGCTG	0.443000														177			18		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164328	151164328	+	Silent	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151164328T>G	uc011bod.2	-	3	3441	c.3441A>C	c.(3439-3441)ccA>ccC	p.P1147P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1147					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTATGGATGTTGGAGCATATG	0.413000														245			17		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95574384	95574384	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:95574384G>A	uc001ydw.2	-	16	2695	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	DICER1_uc010avh.1_5'Flank|DICER1_uc021sbc.1_Missense_Mutation_p.S828F|DICER1_uc001ydv.2_Missense_Mutation_p.S818F|DICER1_uc001ydx.2_Missense_Mutation_p.S828F|DICER1_uc021sbd.1_Missense_Mutation_p.S110F	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	828					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAACTCAATGGATATGGTAAC	0.378000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					41			7		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480745	57480745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57480745G>A	uc009vzx.1	-	11	1575	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	DAB1_uc001cyt.1_Nonsense_Mutation_p.Q417*|DAB1_uc001cyq.1_Nonsense_Mutation_p.Q417*|DAB1_uc001cyr.1_Nonsense_Mutation_p.Q333*|DAB1_uc009vzw.1_Nonsense_Mutation_p.Q401*|DAB1_uc001cys.1_Nonsense_Mutation_p.Q419*	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	452					cell differentiation|nervous system development			p.Q419K(2)|p.Q419H(1)		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						TGGGCCATCTGGAAATCCTTA	0.597000														66			14		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459985	107459985	+	Missense_Mutation	SNP	A	C	C	rs141100958		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:107459985A>C	uc002tdq.3	-	1	568	c.449T>G	c.(448-450)tTc>tGc	p.F150C	ST6GAL2_uc002tdr.3_Missense_Mutation_p.F150C|ST6GAL2_uc002tds.3_Missense_Mutation_p.F150C	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	150					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.F150L(1)		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						GGGGGAAGGGAATCCCAATGT	0.612000														189			32		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312235	46312235	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:46312235C>T	uc011bzc.1	-	4	761	c.349G>A	c.(349-351)Gat>Aat	p.D117N	GABRA2_uc003gxc.3_Missense_Mutation_p.D172N|GABRA2_uc010igc.2_Missense_Mutation_p.D172N|GABRA2_uc003gxe.3_Missense_Mutation_p.D172N			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	172					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.M117I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTGGGAAATCCTCCAAGTGC	0.378000														54			4		0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45955566	45955566	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:45955566A>T	uc001ncc.4	-	17	2620	c.1996T>A	c.(1996-1998)Tcc>Acc	p.S666T	PHF21A_uc001ncb.4_Missense_Mutation_p.S620T|PHF21A_uc009ykx.3_Missense_Mutation_p.S620T|PHF21A_uc001nca.1_3'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	666	Required for transcriptional repression.			PSPSSQSCTANCNQGEETK -> LCSLPELHSEL (in Ref. 7).	blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CAGCTCTGGGAGGAGGGGGAA	0.632000														52			4		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135496363	135496364	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135496363_135496364GG>AA	uc004ezu.1	+	24	9373_9374	c.9082_9083GG>AA	c.(9082-9084)gga>AAa	p.G3028K	GPR112_uc010nsb.1_Missense_Mutation_p.G2823K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	3028					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)					TAAACAGGAGGGACTAAAGAAA	0.386000														86			30		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052159	34052159	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34052159C>T	uc001bxm.1	-	45	7173	c.6996G>A	c.(6994-6996)ctG>ctA	p.L2332L	CSMD2_uc001bxn.1_Silent_p.L2334L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2334	Sushi 13.					integral to membrane|plasma membrane	protein binding	p.L2334L(1)		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)				GTTTGCAGGTCAGAATTTCAT	0.493000														74			14		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131640552	131640552	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:131640552G>A	uc021qav.1	-	12	1232	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	EBF3_uc001lki.2_Silent_p.I391I	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	400					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCTTCAAGATGATCTCCTGCA	0.672000														63			8		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273906	10273906	+	Silent	SNP	G	A	A	rs145961628		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:10273906G>A	uc010uym.2	-	2	673	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GRIN2A_uc002czo.4_Silent_p.F121F|GRIN2A_uc002czr.4_Silent_p.F121F|GRIN2A_uc010buk.3_Silent_p.F121F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	121					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.F121L(2)		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)	AGATGGGGACGAAGGTGTGGG	0.602000														70			11		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694312	153694312	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:153694312C>T	uc004flm.3	+	13	2740	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	856	IPT/TIG 1.				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)					GAAGGAGGCACCCGGGTCACC	0.652000														33			8		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306696	41306696	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:41306696G>A	uc002xkg.3	-	6	1147	c.963C>T	c.(961-963)atC>atT	p.I321I	PTPRT_uc010ggj.3_Silent_p.I321I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	321	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)				CTTCCTTCAGGATGATGGGGC	0.582000														64			20		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907782	103907782	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:103907782G>A	uc001phr.2	+	0	475	c.232G>A	c.(232-234)Gac>Aac	p.D78N	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	78	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity	p.D78N(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACTGCAGAAGGACAATGTGGG	0.597000														180			21		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140223159	140223159	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:140223159C>T	uc010lnk.3	-	16	3133	c.2613G>A	c.(2611-2613)caG>caA	p.Q871Q	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.Q871Q|DENND2A_uc003vvw.3_Silent_p.Q871Q	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	871										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTCGTTCCTCTGTTCCAGAA	0.597000														91			5		0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173780289	173780289	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173780289G>A	uc001gjg.4	-	2	752	c.149C>T	c.(148-150)cCc>cTc	p.P50L	CENPL_uc001gje.4_Missense_Mutation_p.P50L|CENPL_uc001gjf.4_Missense_Mutation_p.P50L	NM_001127181	NP_001120653	Q8N0S6	CENPL_HUMAN	Homo sapiens centromere protein L (CENPL), transcript variant 1, mRNA.	50					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CGAACACTGGGGAATTTTCCT	0.393000														115			7		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118742	194118742	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:194118742G>A	uc003ftv.1	-	1	301	c.270C>T	c.(268-270)gcC>gcT	p.A90A	GP5_uc021xiz.1_Silent_p.A90A	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	90					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGGTGCCGGGGGCAACGGCGG	0.592000														102			35		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266856	6266856	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:6266856C>T	uc003mwv.3	-	3	629	c.506G>A	c.(505-507)gGc>gAc	p.G169D	F13A1_uc011dib.2_Missense_Mutation_p.G106D	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	169					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGAAGTACGCCATAGGGAGT	0.463000														98			14		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868105	23868105	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:23868105C>T	uc001wjv.3	-	14	1794	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	575	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AAGTGGGCTTCCTGCTTCCCC	0.547000														48			10		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47611818	47611818	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47611818G>A	uc001cqv.1	+	10	1408	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	CYP4A22_uc009vyo.3_Missense_Mutation_p.G453R|CYP4A22_uc009vyp.3_Missense_Mutation_p.G355R	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	453						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCTCAGGAGGATCAAGGTG	0.517000														346			68		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18085051	18085051	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18085051C>T	uc002nht.3	+	2	664	c.354C>T	c.(352-354)atC>atT	p.I118I	KCNN1_uc010xqa.1_Silent_p.I118I	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	118					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGTTTGGCATCGTCGTCATGG	0.642000														25			4		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133574	22133574	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22133574C>T	uc010tmd.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AAGACCATTTCCTTTGACAAC	0.438000														224			28		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47582349	47582349	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47582349G>A	uc001cqu.1	+	10	1297	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	432						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATTCTCCAGGGAAAATTCTGA	0.408000														29			6		0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	613253	613253	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:613253C>T	uc002lpe.3	+	5	1643	c.1590C>T	c.(1588-1590)atC>atT	p.I530I		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	530					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGGAGATCGTCAACTTCA	0.672000														19			3		0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815820	179815820	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:179815820G>A	uc001gnl.3	-	6	1613	c.799C>T	c.(799-801)Cca>Tca	p.P267S	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.P267S	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	267						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTGGCCTGGAAATTTATCT	0.493000														74			14		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957327	35957327	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35957327C>T	uc003jjv.2	-	4	1231	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.V346V|UGT3A1_uc011cor.2_Silent_p.V312V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	346						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGTGG	0.488000														47			4		0	0	1	0	0
ARG1	383	broad.mit.edu	37	6	131902433	131902433	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:131902433C>A	uc003qcp.2	+	3	459	c.380C>A	c.(379-381)aCt>aAt	p.T127N	ARG1_uc003qco.2_Missense_Mutation_p.T127N|ARG1_uc010kfm.2_Missense_Mutation_p.T135N|MED23_uc003qcq.3_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.	127	Substrate binding.				arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GATGCTCACACTGATATCAAC	0.453000														37			7		1.12685e-05	1.13532e-05	1	1	0
ACSBG1	23205	broad.mit.edu	37	15	78487013	78487013	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:78487013G>A	uc002bdh.3	-	2	494	c.288C>T	c.(286-288)ccC>ccT	p.P96P	ACSBG1_uc010umx.2_Intron|ACSBG1_uc010umw.2_Silent_p.P96P|ACSBG1_uc010umy.2_5'UTR	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	96					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGGCAGCTGGGGTCTATGC	0.632000														129			20		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20805297	20805297	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:20805297G>A	uc009yid.3	+	3	493	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.E86K|NELL1_uc001mqf.3_Missense_Mutation_p.E86K|NELL1_uc010rdo.2_Missense_Mutation_p.E86K	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	86	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.E86*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACAAGAGTGAATTCACCAT	0.443000														53			11		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37864606	37864606	+	Silent	SNP	C	T	T	rs147785188		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37864606C>T	uc002hso.3	+	2	496	c.258C>T	c.(256-258)atC>atT	p.I86I	ERBB2_uc010cwa.3_Silent_p.I71I|ERBB2_uc002hsm.3_Silent_p.I56I|ERBB2_uc002hsp.3_5'UTR|ERBB2_uc010cwb.3_Silent_p.I86I|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Silent_p.I56I|ERBB2_uc002hsn.1_Silent_p.I86I	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	86					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACGTGCTCATCGCTCACAACC	0.612000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				85			7		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135036	128135036	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128135036G>A	uc011ebt.2	-	3	899	c.750C>T	c.(748-750)gtC>gtT	p.V250V	THEMIS_uc010kfa.3_Silent_p.V153V|THEMIS_uc021zfa.1_Silent_p.V250V|THEMIS_uc010kfb.3_Silent_p.V215V	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	250	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTTTGACTTCGACATCTAGAC	0.348000														111			9		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29255914	29255914	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:29255914G>A	uc010ezl.3	+	14	2478	c.2127G>A	c.(2125-2127)caG>caA	p.Q709Q	FAM179A_uc010ymm.2_Silent_p.Q654Q|FAM179A_uc002rmr.4_Silent_p.Q236Q|FAM179A_uc002rms.1_5'Flank	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	709							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCATTAAACAGCAGGTGAGCT	0.527000														14			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428870	10428871	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10428870_10428871CC>TT	uc010coi.3	-	31	4562_4563	c.4434_4435GG>AA	c.(4432-4437)aaggag>aaAAag	p.E1479K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1479K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1479					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAACGGGCCTCCTTCTGGGAGG	0.465000														45			6		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73478005	73478005	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:73478005C>T	uc003tzw.3	+	28	2082	c.1991C>T	c.(1990-1992)cCa>cTa	p.P664L	ELN_uc003tzn.3_Missense_Mutation_p.P658L|ELN_uc003tzy.3_Missense_Mutation_p.P634L|ELN_uc003tzz.3_Missense_Mutation_p.P577L|ELN_uc003tzo.3_Missense_Mutation_p.P610L|ELN_uc003tzp.3_Missense_Mutation_p.P569L|ELN_uc003tzq.3_Missense_Mutation_p.P522L|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P639L|ELN_uc003tzt.3_Missense_Mutation_p.P663L|ELN_uc003tzu.3_Missense_Mutation_p.P644L|ELN_uc003tzv.3_Missense_Mutation_p.P629L|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P648L|ELN_uc011kff.2_Missense_Mutation_p.P658L	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	720	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)	CTTGGAGTTCCAGGTGTTGGG	0.572000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							87			8		0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770310	152770310	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152770310C>T	uc021ozh.1	+	0	40	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	LCE1D_uc009wnp.3_Missense_Mutation_p.P14S	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	14	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	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;0.206)			CCAGCCCCctcccaagtgcac	0.612000														29			15		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197881	19197881	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:19197881G>A	uc021wle.1	-	19	3279	c.3204C>T	c.(3202-3204)gcC>gcT	p.A1068A	CLTCL1_uc021wld.1_Silent_p.A1068A|CLTCL1_uc021wlc.1_Silent_p.A1068A|CLTCL1_uc021wlf.1_Silent_p.A1068A|CLTCL1_uc011agw.1_Silent_p.A1068A|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpd.1_Silent_p.A28A|CLTCL1_uc002zpe.2_Silent_p.A28A	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1068	Heavy chain arm.|Proximal segment.				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)					AAACGGTGAAGGCCTCCTCAT	0.547000			T	?	ALCL									59			5		0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	603796	603796	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:603796C>T	uc002lpe.3	+	1	938	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	295					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGACTTCGTGTCCTCCA	0.567000														40			6		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499584	75499585	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75499584_75499585CC>TT	uc002azp.4	+	1	1515_1516	c.1195_1196CC>TT	c.(1195-1197)cct>TTt	p.P399F	C15orf39_uc002azq.4_Missense_Mutation_p.P399F|C15orf39_uc021sqm.1_Missense_Mutation_p.P158F|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	399										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGGGACACCACCTTCCCAGAAC	0.614000														124			12		0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45235775	45235775	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:45235775C>T	uc002ruo.3	-	0	768	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	159						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCCGTGGCCTCCGCCAGCTCA	0.637000														89			6		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610403	47610403	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47610403C>T	uc001cqv.1	+	7	1130	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	CYP4A22_uc009vyo.3_Missense_Mutation_p.S360F|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	360						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATGGAGCCTCCATCACCTGG	0.607000														38			10		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48631777	48631777	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48631777G>A	uc002ird.3	+	14	2264	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	SPATA20_uc002irc.3_Missense_Mutation_p.R359H|SPATA20_uc002ire.3_Missense_Mutation_p.R648H|SPATA20_uc002irf.3_Missense_Mutation_p.R692H|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	692					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GAGATGGTCCGCGCCCTCTCA	0.642000														105			9		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10035157	10035157	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:10035157G>A	uc002wno.3	+	9	2475	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.K694K|ANKRD5_uc010gbz.3_Silent_p.K505K	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	694			K -> N (in a breast cancer sample; somatic mutation).				calcium ion binding	p.K694N(2)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CAGAGGGAAAGAAAGTACAGA	0.343000														35			10		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63430183	63430183	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:63430183G>A	uc002lkb.3	+	1	531	c.105G>A	c.(103-105)aaG>aaA	p.K35K	CDH7_uc002ljz.3_Silent_p.K35K|CDH7_uc002lka.3_Silent_p.K35K	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	35					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)				CCAGATCAAAGCCCTATTTCC	0.493000														34			6		0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40765958	40765958	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40765958C>T	uc002ian.3	+	7	1183	c.785C>T	c.(784-786)cCc>cTc	p.P262L		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	262					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCGCTCATTCCCACCCCACGG	0.617000														143			39		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541250	65541250	+	Silent	SNP	G	A	A	rs151327457		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:65541250G>A	uc002sdr.4	-	5	1177	c.642C>T	c.(640-642)atC>atT	p.I214I	SPRED2_uc010fcw.3_Silent_p.I211I	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	214	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.I214I(2)		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						TGATGCGCACGATCTCCTCGT	0.622000														35			8		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393464	145393464	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:145393464C>T	uc003lnt.3	+	4	1137	c.899C>T	c.(898-900)tCc>tTc	p.S300F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S300F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	300							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCAGTTTTCCATCACAACA	0.577000														83			22		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152358	133152358	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:133152358C>T	uc003ytj.3	-	10	1758	c.1533G>A	c.(1531-1533)atG>atA	p.M511I	KCNQ3_uc003yti.3_Missense_Mutation_p.M391I|KCNQ3_uc010mdt.3_Missense_Mutation_p.M511I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	511					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTGGGGATCATGTCTTCGA	0.632000														44			8		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848661	166848661	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:166848661C>T	uc002udo.4	-	27	5351	c.5124G>A	c.(5122-5124)gaG>gaA	p.E1708E	SCN1A_uc010fpk.3_Silent_p.E1680E|SCN1A_uc021vsb.1_Silent_p.E1697E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1708						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGCCAAAGGTCTCAAAGTTGA	0.468000														177			27		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51472605	51472605	+	Silent	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:51472605T>A	uc001jio.3	-	3	501	c.375A>T	c.(373-375)atA>atT	p.I125I	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	125					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CATCAAGGAATATTGTCGAAC	0.373000														51			6		0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27605730	27605730	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:27605730C>T	uc003xgc.3	-	6	528	c.415G>A	c.(415-417)Gag>Aag	p.E139K	CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_Missense_Mutation_p.E71K|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Non-coding_Transcript|CCDC25_uc003xgf.1_Non-coding_Transcript	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA.	139								p.V138V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GGGAACCGCTCGACTTTGGTC	0.393000														48			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13923469C>T	uc003jfd.2	-	3	400	c.358G>A	c.(358-360)Gat>Aat	p.D120N	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome					143			26		0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25215943	25215943	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:25215943C>T	uc011awl.2	+	0	121	c.55C>T	c.(55-57)Cac>Tac	p.H19Y		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	19	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACACATGACTCACTATCCAGC	0.582000														95			5		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602573	18602573	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:18602573G>A	uc002dfg.3	+	7	971	c.771G>A	c.(769-771)ggG>ggA	p.G257G	ABCC6P1_uc010vam.2_Silent_p.G200G					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		TCCTCCTGGGGACCCTCAGCC	0.592000														48			10		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42154391	42154391	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42154391C>T	uc003baz.1	+	17	1999	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.L26L|MEI1_uc003bbc.1_Silent_p.L26L|MEI1_uc010gym.1_Silent_p.L26L|MEI1_uc003bbd.1_5'UTR	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	658							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTCTGAGCTCCTGCAGCATG	0.522000														39			4		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928814	2928814	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:2928814C>T	uc003bpc.3	+	9	1185	c.846C>T	c.(844-846)atC>atT	p.I282I	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.I282I|CNTN4_uc003bpd.1_Silent_p.I282I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	282	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCTTGAGATCCCTAATTTTC	0.413000														29			4		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319128	21319128	+	Silent	SNP	C	T	T	rs146165782	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:21319128C>T	uc021tss.1	+	2	844	c.474C>T	c.(472-474)gcC>gcT	p.A158A	KCNJ18_uc002gyv.1_Silent_p.A158A|KCNJ18_uc021tst.1_Silent_p.A158A	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	158						integral to membrane	inward rectifier potassium channel activity										GCCCGGTGGCCGTCTTCATGG	0.622000														63			5		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459655	49459655	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49459655G>A	uc001jgi.3	-	1	436	c.105C>T	c.(103-105)tcC>tcT	p.S35S	FRMPD2_uc001jgh.3_Silent_p.S26S|FRMPD2_uc001jgj.3_Silent_p.S26S	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	35	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGAACAGGAGGGACCAGATTT	0.557000														43			11		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587467	36587467	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:36587467C>G	uc003aox.3	-	5	934	c.709G>C	c.(709-711)Gaa>Caa	p.E237Q	APOL4_uc003aow.3_Missense_Mutation_p.E234Q|APOL4_uc010gww.3_Missense_Mutation_p.E80Q	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	238					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						TTTGTGGCTTCGTCAAAATCA	0.453000														39			7		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563283	125563283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125563283G>A	uc011lze.2	+	0	882	c.882G>A	c.(880-882)tgG>tgA	p.W294*		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACAGCCTCTGGAATCGCGATG	0.602000														67			8		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82422900	82422900	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:82422900G>A	uc002bgt.1	-	19	3346	c.3177C>T	c.(3175-3177)atC>atT	p.I1059I	EFTUD1_uc002bgu.1_Silent_p.I1008I	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	1059					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CACTGGGAATGATCTTGTAAA	0.428000														72			8		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561764	44561764	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:44561764G>A	uc003tlb.3	-	10	2771	c.2715C>T	c.(2713-2715)acC>acT	p.T905T	NPC1L1_uc011kbw.2_Silent_p.T859T|NPC1L1_uc003tlc.3_Silent_p.T905T|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	905					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGTAGCCCAAGGTGGTAACAA	0.547000														26			5		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49414910	49414910	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49414910C>T	uc001jgi.3	-	13	2009	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E528K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E529K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	560	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATCTCCTCTTCTGGCCTCCTC	0.483000														51			4		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139572095	139572095	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139572095C>T	uc011kqv.2	+	1	389	c.154C>T	c.(154-156)Cct>Tct	p.P52S	TBXAS1_uc003vvh.3_Missense_Mutation_p.P52S|TBXAS1_uc010lne.3_5'UTR|TBXAS1_uc011kqu.2_Intron|TBXAS1_uc003vvi.3_Missense_Mutation_p.P52S|TBXAS1_uc011kqw.2_Missense_Mutation_p.S22F|TBXAS1_uc003vvj.3_Missense_Mutation_p.P52S|TBXAS1_uc011kqx.1_Missense_Mutation_p.P52S	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	51					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CAAGCCTTCTCCTTTCATTGG	0.473000														69			8		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160535504	160535504	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160535504G>A	uc001fwh.4	-	1	157	c.78C>T	c.(76-78)atC>atT	p.I26I	CD84_uc001fwf.4_Silent_p.I26I|CD84_uc009wtn.3_Silent_p.I26I|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Silent_p.I26I|CD84_uc001fwj.3_Silent_p.I26I|CD84_uc001fwk.3_Silent_p.I26I	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	26					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCACTGTGAAGATTTCTGAGT	0.418000														16			4		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38154775	38154775	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:38154775C>T	uc001uwo.4	-	10	1570	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	POSTN_uc010tet.2_Silent_p.A12A|POSTN_uc001uwp.4_Silent_p.A484A|POSTN_uc001uwr.3_Silent_p.A484A|POSTN_uc001uwq.3_Silent_p.A484A|POSTN_uc010teu.1_Silent_p.A484A|POSTN_uc010tev.1_Silent_p.A484A|POSTN_uc010tew.1_Silent_p.A484A|POSTN_uc010tex.1_Silent_p.A399A	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	484	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.G483C(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATATGTGAATCGCACCGTTTC	0.448000														131			25		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99361517	99361517	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99361517C>T	uc003urv.2	-	9	1094	c.987G>A	c.(985-987)caG>caA	p.Q329Q	CYP3A4_uc003urw.2_Silent_p.Q328Q|CYP3A4_uc011kiz.2_Silent_p.Q288Q	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	329					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCTGCAGTTTCTGCTGGACAT	0.453000														46			8		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432124	228432124	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228432124G>A	uc009xez.1	+	10	3377	c.3333G>A	c.(3331-3333)ggG>ggA	p.G1111G	OBSCN_uc001hsn.3_Silent_p.G1111G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1111	Ig-like 11.				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)				ACAAGGATGGGAAGAAGCTGA	0.612000														83			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21260045	21260045	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21260045C>A	uc002red.3	-	5	748	c.620G>T	c.(619-621)aGa>aTa	p.R207I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	207	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCCAGGTCTCTTTCAGTGGA	0.517000														23			3		0.004672	0.00468698	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150934934	150934934	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150934934C>T	uc003wjr.1	+	3	2999	c.1486C>T	c.(1486-1488)Ctg>Ttg	p.L496L	CHPF2_uc003wjq.1_Silent_p.L488L|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	496						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GCTGCCACTCCTGGTGGCTGA	0.622000														44			19		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417602	150417602	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150417602G>A	uc003whq.3	+	2	650	c.510G>A	c.(508-510)gaG>gaA	p.E170E	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GCAACACAGAGAACCGGGCCT	0.647000														82			21		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366960	248366960	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248366960G>A	uc010pzg.2	+	0	591	c.591G>A	c.(589-591)aaG>aaA	p.K197K		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K197N(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			TATTTGAAAAGATTCTTTTCA	0.428000														199			16		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54559794	54559794	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:54559794C>T	uc002iun.1	+	16	2213	c.2178C>T	c.(2176-2178)gcC>gcT	p.A726A		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	726										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCTCCCTGCCTCAGACGACG	0.527000														123			9		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774880	2774880	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2774880C>T	uc002wgu.3	-	13	2235	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	CPXM1_uc010gas.3_Missense_Mutation_p.D647N	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	721					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						CTGCGAAGGTCCGGGGGCACC	0.622000														79			12		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204900	34204900	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34204900G>A	uc001bxm.1	-	14	2386	c.2209C>T	c.(2209-2211)Cca>Tca	p.P737S	CSMD2_uc001bxn.1_Missense_Mutation_p.P697S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	697	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATTTACTGGAACGCCAGGA	0.527000														82			17		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114298150	114298150	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:114298150G>A	uc003vhb.3	+	10	1670	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	FOXP2_uc003vgu.3_Intron|FOXP2_uc003vgz.3_Silent_p.S457S|FOXP2_uc003vha.3_Silent_p.S340S|FOXP2_uc011kmv.2_Silent_p.S431S|FOXP2_uc011kmu.2_Silent_p.S449S|FOXP2_uc010ljz.2_Intron|FOXP2_uc003vhe.1_Silent_p.S2S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	432					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCACCATGTCGAAGAATATGT	0.488000														84			20		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399627	55399627	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55399627C>T	uc002qhr.1	+	3	812	c.615C>T	c.(613-615)tcC>tcT	p.S205S	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Silent_p.S205S|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Silent_p.S193S|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Silent_p.S96S	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	205					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ACCTGTGGTCCTTCCCCAGTA	0.597000														22			4		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915058	48915058	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:48915058G>A	uc002rwu.4	-	10	1948	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	626					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATGTCTTAGTGAATATTGCAT	0.358000														109			13		0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175956224	175956224	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175956224G>A	uc001gku.1	-	17	2244	c.1988C>T	c.(1987-1989)tCt>tTt	p.S663F	RFWD2_uc001gkv.1_Missense_Mutation_p.S639F|RFWD2_uc001gkw.1_Missense_Mutation_p.S423F|RFWD2_uc009wwv.2_Missense_Mutation_p.S462F|RFWD2_uc001gkt.1_Missense_Mutation_p.S502F	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	663					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGGTAGAGAGAGTTATTTTC	0.303000														46			3		0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96034544	96034544	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:96034544A>G	uc003poo.2	+	1	409	c.229A>G	c.(229-231)Aaa>Gaa	p.K77E	MANEA_uc003pon.3_Missense_Mutation_p.K77E	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	77	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CAAGAATTTAAAAAGTGTTGA	0.333000														85			5		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885930	70885930	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:70885930G>A	uc003tvy.3	+	4	801	c.801G>A	c.(799-801)cgG>cgA	p.R267R	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	267						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGGAAAACCGGAAGCGTGTGA	0.547000														195			17		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139642981	139642981	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:139642981C>T	uc003yvd.3	-	49	4067	c.3620G>A	c.(3619-3621)gGa>gAa	p.G1207E	COL22A1_uc011ljo.2_Missense_Mutation_p.G487E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1207	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTGCAATTCCATCTGCCCC	0.448000										HNSCC(7;0.00092)				110			22		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757526	242757526	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242757526G>A	uc002wcp.2	+	3	1140	c.646G>A	c.(646-648)Gat>Aat	p.D216N	NEU4_uc010fzr.3_Missense_Mutation_p.D203N|NEU4_uc002wcm.3_Missense_Mutation_p.D203N|NEU4_uc002wco.2_Missense_Mutation_p.D203N|NEU4_uc002wcn.2_Missense_Mutation_p.D215N	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	203						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTTCTACAGCGATGACCACGG	0.687000														13			4		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40710585	40710585	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:40710585G>A	uc002xkg.3	-	29	4393	c.4209C>T	c.(4207-4209)atC>atT	p.I1403I	PTPRT_uc010ggj.3_Silent_p.I1422I|PTPRT_uc010ggi.3_Silent_p.I606I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1403	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.N1402K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACACGTCAATGATGTTTTGCT	0.502000														79			13		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126432760	126432760	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:126432760C>T	uc001qea.3	-	1	464	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	KIRREL3_uc001qeb.3_Missense_Mutation_p.A35T|KIRREL3_uc001qec.1_Missense_Mutation_p.A35T|KIRREL3_uc001qed.4_Non-coding_Transcript	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	35					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGTCCTTGGCCATGTAGCCC	0.547000														74			4		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740833	16740833	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:16740833C>T	uc010exm.2	-	8	880	c.732G>A	c.(730-732)acG>acA	p.T244T	FAM49A_uc002rck.2_Silent_p.T244T	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	244						intracellular		p.T244T(2)		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)			TCTCTTCACTCGTAAACCTAC	0.493000														62			18		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74690363	74690363	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74690363C>T	uc001jte.1	+	7	1653	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	479	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTTCCAGGTCCCTGTCTTCAA	0.433000														173			13		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348594	30348594	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:30348594C>T	uc002hgu.3	+	0	440	c.429C>T	c.(427-429)aaC>aaT	p.N143N	LRRC37B_uc010wbx.2_Silent_p.N61N|LRRC37B_uc010csu.3_Silent_p.N143N	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	143						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGGATCAGAACCAGGCCCTAG	0.527000														76			7		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676019	7676019	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:7676019C>T	uc002mgu.4	+	10	1270	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	CAMSAP3_uc002mgv.4_Missense_Mutation_p.S363F	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	363					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTTCTGTCATCTGGTGGCCCC	0.662000														73			10		0	0	1	0	0
ROGDI	79641	broad.mit.edu	37	16	4849730	4849730	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4849730C>T	uc002cxv.3	-	5	491	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	ROGDI_uc002cxu.3_Missense_Mutation_p.R40Q|ROGDI_uc002cxw.3_Missense_Mutation_p.R40Q	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	Homo sapiens rogdi homolog (Drosophila) (ROGDI), mRNA.	130						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GCTCTGGTCCCGGCTGGTAAG	0.612000														21			4		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26241127	26241127	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26241127G>A	uc001isn.2	+	2	448	c.88G>A	c.(88-90)Gga>Aga	p.G30R	MYO3A_uc009xko.1_Missense_Mutation_p.G30R|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G30R|MYO3A_uc001ism.2_Missense_Mutation_p.G30R	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	30	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTGGCAAAGGAACTTATGG	0.318000														35			5		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35584047	35584047	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:35584047G>A	uc003xjr.2	+	10	2009	c.1681_splice	c.e10+1	p.G561_splice	UNC5D_uc003xjs.2_Splice_Site_p.G556_splice|UNC5D_uc003xju.2_Splice_Site_p.G137_splice|UNC5D_uc003xjt.1_Missense_Mutation_p.G319S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	561	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.G556R(1)		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)		GCCAAATACAGGTGGGTGGTA	0.418000														165			10		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106970980	106970980	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:106970980C>T	uc001kyi.1	+	16	2574	c.2347C>T	c.(2347-2349)Ctt>Ttt	p.L783F	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	783						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)		GGACTGCAGCCTTGGTCAAAG	0.473000														23			11		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228387	61228387	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61228387G>A	uc010xeo.2	+	3	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	SERPINB12_uc010xen.2_Missense_Mutation_p.E152K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	152					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAAAACCCTGAAAAATCCAG	0.373000														80			15		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536531	4536531	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4536531G>A	uc002fyh.3	-	9	1353	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	ALOX15_uc010vsd.2_Missense_Mutation_p.P404L|ALOX15_uc010vse.2_Missense_Mutation_p.P465L	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	443	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GTCATCAGGGGGACAGAAGGA	0.582000														25			7		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918723	52918723	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:52918723C>T	uc002pzh.3	+	6	1044	c.618C>T	c.(616-618)atC>atT	p.I206I	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACCAAGTAATCCATAACGCAG	0.403000														63			12		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347399	71347399	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:71347399C>T	uc011cat.2	+	3	1226	c.938C>T	c.(937-939)tCt>tTt	p.S313F	MUC7_uc011cau.2_Missense_Mutation_p.S313F|MUC7_uc003hfj.3_Missense_Mutation_p.S313F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	313	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACACCTAATTCTTCCCCAACT	0.512000														118			21		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119285936	119285936	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:119285936C>T	uc003pyj.3	-	16	3382	c.3034_splice	c.e16-1	p.E1012_splice	FAM184A_uc003pyk.4_Splice_Site_p.E843_splice|FAM184A_uc003pyl.4_Intron|FAM184A_uc003pyi.3_Splice_Site	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	1012										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTATTATCCTCCTATGCAAAA	0.264000														22			3		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38883966	38883966	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38883966C>T	uc003jln.2	+	4	858	c.456C>T	c.(454-456)ttC>ttT	p.F152F	OSMR_uc003jlm.2_Silent_p.F152F	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	152					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)					TGTTCGTTTTCCCTAAAGATA	0.353000														46			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059696	9059697	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9059696_9059697GG>AA	uc002mkp.3	-	2	27953_27954	c.27749_27750CC>TT	c.(27748-27750)gcc>gTT	p.A9250V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9252	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						TTGAAGATGTGGCCTTTGTTGT	0.450000														73			8		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409615	17409615	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17409615G>A	uc001mna.3	-	0	592	c.24C>T	c.(22-24)atC>atT	p.I8I	KCNJ11_uc001mnb.4_Intron	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	0						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		ATTCCTCGGGGATGATGCCCT	0.672000														85			17		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067127	62067127	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:62067127G>A	uc002sbm.4	-	2	1114	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	FAM161A_uc002sbn.4_Missense_Mutation_p.R148W|FAM161A_uc010ypo.2_Missense_Mutation_p.R338W|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.R229W	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	338					response to stimulus|visual perception	centrosome		p.S338F(1)|p.R229W(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCTTTTCCCGGGCTGCTCGC	0.413000														91			19		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115398061	115398061	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115398061G>A	uc001efr.3	+	2	186	c.-23_splice	c.e2-1		SYCP1_uc010owt.2_Splice_Site|SYCP1_uc001efq.3_5'UTR|SYCP1_uc009wgw.3_5'UTR	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.						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)		CGGGGCAGTAGATATTTACAA	0.448000														37			5		0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74178889	74178889	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:74178889C>T	uc002avz.3	+	7	796	c.713C>T	c.(712-714)cCc>cTc	p.P238L	TBC1D21_uc010ulc.2_Missense_Mutation_p.P202L	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	238	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCCTCTTCCCCTGGTTCTGC	0.572000														46			7		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267020	72267020	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:72267020C>T	uc003xyu.3	-	2	761	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Missense_Mutation_p.E41K|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.E41K|EYA1_uc011lfe.2_Missense_Mutation_p.E41K|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	41					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACTCACCTTCGGTGCCATTG	0.433000														106			13		0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42891901	42891901	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:42891901G>A	uc010zwl.2	+	3	703	c.636G>A	c.(634-636)atG>atA	p.M212I	GDAP1L1_uc002xlp.1_Missense_Mutation_p.M193I|GDAP1L1_uc002xlq.3_Missense_Mutation_p.M193I|GDAP1L1_uc010zwm.2_Missense_Mutation_p.M135I|GDAP1L1_uc010zwn.2_Missense_Mutation_p.M1I	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	193	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGACCTCATGAAACTGGACC	0.547000														298			38		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919969	48919969	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48919969C>T	uc010slu.2	+	0	555	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CATCCCTCCTCCCTCTGTCCT	0.488000														56			10		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462937	26462937	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26462937G>A	uc001isn.2	+	29	4104	c.3744G>A	c.(3742-3744)agG>agA	p.R1248R	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1248					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGAGGAGAGGAATTGTGAAG	0.433000														70			17		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606783	43606783	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:43606783C>T	uc001jal.3	+	6	1582	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	RET_uc001jak.1_Silent_p.I464I|RET_uc010qez.1_Silent_p.I210I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	464					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTCGGGGATCCTGTTTGTGA	0.607000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					65			24		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131271333	131271333	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:131271333G>A	uc011blq.2	-	12	1283	c.1173C>T	c.(1171-1173)gtC>gtT	p.V391V	CPNE4_uc003eok.3_Silent_p.V373V|CPNE4_uc003eol.3_Silent_p.V391V|CPNE4_uc003eom.3_Silent_p.V373V	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	373	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGTCATGAGAGACCTAGACAC	0.398000														55			6		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150905410	150905410	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:150905410G>A	uc003lue.4	-	16	10438	c.10425C>T	c.(10423-10425)ttC>ttT	p.F3475F	FAT2_uc003lud.4_Silent_p.F168F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3475	Cadherin 31.				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)			GGGTCACTCGGAAGGCAGAGC	0.577000														68			7		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724482	7724482	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7724482C>T	uc001aoi.3	+	8	2082	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.P624P(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAAACCCCTCCCCGTCGAGC	0.637000			T	WWTR1	epitheliod hemangioendothelioma									242			65		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894405	123894405	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123894405C>T	uc010sad.2	+	0	686	c.686C>T	c.(685-687)aCc>aTc	p.T229I		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H228R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		CGGATCCACACCTCAGAGGGG	0.527000														78			5		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274201	103274201	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103274201C>T	uc002tca.3	+	1	610	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	156						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCGGCTATTTCATGCCCACTC	0.468000														218			25		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285459	48285459	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48285459C>T	uc010rht.2	+	0	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	16					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						GTGGGATTTTCCCAGAATTGG	0.453000														60			11		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239925	5239925	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:5239925G>A	uc003jdl.3	+	15	2548	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N	ADAMTS16_uc003jdk.1_Missense_Mutation_p.D804N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	804	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGGACCGTGGACTGGCCCGG	0.522000														80			8		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841798	8841798	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8841798G>A	uc010xkg.2	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTACTTATGAGACGCCAGG	0.552000														84			12		0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118383497	118383497	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:118383497G>A	uc001lcq.3	+	3	114	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA.	31					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CTTTTCTGATGAAAAACCATG	0.473000														73			11		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132535265	132535265	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:132535265G>A	uc003kyn.1	-	15	2269	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	FSTL4_uc003kym.1_Missense_Mutation_p.P333L	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	684						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCACCATTGGGGCCAAGCAC	0.617000														73			4		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459673	142459673	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142459673G>A	uc003wak.2	+	2	266	c.249G>A	c.(247-249)ggG>ggA	p.G83G	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.G23G	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	83	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)			TCCTGGAGGGGAATGAGCAGT	0.547000														185			7		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111541186	111541186	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:111541186C>T	uc003kpv.1	-	13	1468	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	EPB41L4A_uc003kpp.1_Silent_p.K25K	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	398						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TATTTTCATTCTTTGCTTTCT	0.303000														278			30		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499498	34499498	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:34499498G>A	uc003ojo.3	+	8	1417	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	PACSIN1_uc003ojp.3_Missense_Mutation_p.G387R	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	387	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CGACTCCAAGGGAGTGCGCGT	0.657000														237			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070955	9070955	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9070955C>T	uc002mkp.3	-	2	16695	c.16491G>A	c.(16489-16491)aaG>aaA	p.K5497K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5499	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						TTGAGCTGGTCTTCTCAGACG	0.468000														51			7		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5220972	5220972	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5220972C>T	uc010qyz.2	-	0	959	c.959G>A	c.(958-960)aGa>aAa	p.R320K		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	320					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)		CTCTCAATATCTTTTCAGAGA	0.308000														23			5		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615898	73615898	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:73615898G>A	uc002avp.3	-	7	3530	c.2536C>T	c.(2536-2538)Ccg>Tcg	p.P846S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	846					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.P846L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ACCTGGGACGGGCTGCTGGCG	0.667000														113			23		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965891	88965891	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:88965891C>T	uc011khi.2	+	3	4133	c.3595C>T	c.(3595-3597)Cca>Tca	p.P1199S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1199						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACAGACAGTTCCAGTTCACCA	0.507000										HNSCC(36;0.09)				97			10		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280901	47280901	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47280901C>A	uc001cqn.4	+	7	1122	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	CYP4B1_uc009vyl.1_Silent_p.V182V|CYP4B1_uc001cqm.4_Silent_p.V345V|CYP4B1_uc009vym.3_Silent_p.V331V|CYP4B1_uc010omk.2_Silent_p.V182V	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	345					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R346R(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GAGAGGAGGTCCGCGAGATCC	0.577000														33			5		0.0215528	0.021585	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152832184	152832184	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152832184C>T	uc021zhb.1	-	4	587	c.364G>A	c.(364-366)Gtt>Att	p.V122I	SYNE1_uc003qot.4_Missense_Mutation_p.V129I|SYNE1_uc003qou.4_Missense_Mutation_p.V122I|SYNE1_uc010kjb.1_Missense_Mutation_p.V122I|SYNE1_uc003qpa.1_Missense_Mutation_p.V122I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	122	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.I121I(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCAAGAACTATTGAGGGT	0.373000										HNSCC(10;0.0054)				192			11		0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080360	115080361	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:115080360_115080361GG>AA	uc001ppi.4	-	7	1140_1141	c.1011_1012CC>TT	c.(1009-1014)atccct>atTTct	p.P338S	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_Missense_Mutation_p.P90S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	338				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		gtggGAGGAGGGATAGTTGTGG	0.450000														49			4		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243663	117243663	+	Missense_Mutation	SNP	C	T	T	rs121909034	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117243663C>T	uc003vjd.3	+	16	2867	c.2735C>T	c.(2734-2736)tCg>tTg	p.S912L	CFTR_uc011knq.2_Missense_Mutation_p.S318L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	912	ABC transmembrane type-1 2.		S -> L.		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGCACCAGTTCGTATTATGTG	0.418000									Cystic Fibrosis					71			7		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500563	149500563	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149500563G>A	uc010lpk.3	+	54	7955	c.7955_splice	c.e54-1	p.G2652_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2655	TIL 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATACTCCCAGGATGCCGCTGT	0.677000														31			16		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108152553	108152553	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:108152553C>T	uc001dvk.1	-	22	2069	c.2015_splice	c.e22+1	p.W672_splice	VAV3_uc010ouu.1_Splice_Site_p.W76_splice|VAV3_uc001dvj.1_Splice_Site_p.W112_splice|VAV3_uc010ouv.1_Splice_Site_p.W76_splice|VAV3_uc010ouw.1_Splice_Site_p.W672_splice	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	672	SH2.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TAATACTTACCAGGGTTGGCA	0.348000														60			9		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310311	168310311	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168310311G>A	uc010jjg.3	-	4	864	c.444C>T	c.(442-444)atC>atT	p.I148I	SLIT3_uc003mab.3_Silent_p.I148I|SLIT3_uc010jji.2_Silent_p.I148I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	148					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)			CCTTCCTCGGGATCCCCTGGA	0.473000														64			5		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48580147	48580147	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:48580147G>A	uc002efp.3	-	5	2481	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	748					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGTCCCCCACGAACGTGTACT	0.517000														80			10		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758651	121758651	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:121758651C>T	uc003ksw.1	+	3	425	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.F73F|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.F120F|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.F73F	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	73					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)		ACAGTAAGTTCCGCCCAGTGA	0.443000														60			5		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12859274	12859274	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:12859274C>T	uc003bxk.2	+	9	2892	c.2843C>T	c.(2842-2844)gCt>gTt	p.A948V	CAND2_uc003bxj.2_Missense_Mutation_p.A855V	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	948					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCGAGGGTGCTGAGGAGGGC	0.667000														95			8		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093988	40093988	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40093988G>A	uc001zkj.1	-	2	1759	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GPR176_uc010uck.1_Missense_Mutation_p.S238F	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	298					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAAGAAGACGGAAGTGTCAGG	0.537000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			5		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156626166	156626166	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:156626166G>A	uc001fpp.3	+	8	2371	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	679	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATGGGGGGGACCTGTGCGA	0.622000														108			9		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947151	57947151	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57947151C>T	uc021qjm.1	+	0	235	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	OR9Q1_uc001nmj.3_Missense_Mutation_p.P79S	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79P(1)|p.V78I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TATCACTGTCCCCCAGATGCT	0.502000														81			25		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258407	56258407	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56258407G>A	uc001nix.1	-	0	440	c.440C>T	c.(439-441)cCt>cTt	p.P147L	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATACACATAAGGCACCGTGAT	0.527000														60			16		0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696535	68696535	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:68696535G>A	uc001stz.2	-	11	1973	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	MDM1_uc009zqv.1_Missense_Mutation_p.L333F|MDM1_uc010stc.1_Missense_Mutation_p.L578F	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	613						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)		GAAACTGGAAGAGTTGCCTCA	0.453000														97			7		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952147	141952147	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141952147C>T	uc003vxb.3	-	4	940	c.620G>A	c.(619-621)gGa>gAa	p.G207E	PRSS58_uc003vxc.4_Missense_Mutation_p.G207E	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGACAGGATTCCTTGAAGCAT	0.398000														24			11		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48267936	48267936	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48267936G>A	uc002iqm.3	-	33	2491	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	789	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGACCAGCAGGGCCGCTGGGA	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							124			7		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125015499	125015499	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:125015499G>A	uc003yqw.3	+	12	1818	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	538						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTGCTTCACGAAGGGCAAGG	0.517000														62			6		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569050	61569050	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61569050C>T	uc010xeu.2	+	6	945	c.612C>T	c.(610-612)ttC>ttT	p.F204F	SERPINB2_uc002ljo.3_Silent_p.F204F|SERPINB2_uc002ljp.1_Silent_p.F9F|SERPINB2_uc002ljq.1_Silent_p.F9F	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	204					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTGTCTACTTCAAAGGAAAGT	0.383000														71			14		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818217	214818217	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:214818217T>G	uc001hkm.3	+	12	5478	c.5304T>G	c.(5302-5304)gaT>gaG	p.D1768E		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1864					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATCAGGAAGATATCCATAATC	0.393000														43			9		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115223035	115223035	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115223035C>T	uc001efe.2	-	5	759	c.711G>A	c.(709-711)ctG>ctA	p.L237L	AMPD1_uc001eff.2_Silent_p.L233L	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	204					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L237L(1)|p.L204L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGTGATAGCCCAGGTTTTCAG	0.443000														116			26		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503730	173503730	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173503730G>A	uc001giz.2	-	15	2290	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S	SLC9C2_uc009wwe.2_Missense_Mutation_p.P181S|SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	623					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTATCATAGGATAAATATAT	0.259000														26			5		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971566	79971566	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:79971566G>A	uc010ysh.2	+	1	161	c.156G>A	c.(154-156)ggG>ggA	p.G52G	CTNNA2_uc010yse.2_Silent_p.G52G|CTNNA2_uc010ysf.2_Silent_p.G52G|CTNNA2_uc010ysg.2_Silent_p.G52G	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	52					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAAAGAAAGGGAGGTCAAAGA	0.413000														39			7		0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118200	79118200	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:79118200G>A	uc022bif.1	+	0	903	c.903G>A	c.(901-903)caG>caA	p.Q301Q	GCNT1_uc010mpf.3_Silent_p.Q301Q|GCNT1_uc010mpg.3_Silent_p.Q301Q|GCNT1_uc010mph.3_Silent_p.Q301Q|GCNT1_uc004akf.4_Silent_p.Q301Q|GCNT1_uc010mpi.3_Silent_p.Q301Q|GCNT1_uc004akh.4_Silent_p.Q301Q	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	301	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ATGTACTACAGAATGAAAAAA	0.488000														63			10		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736237	7736238	+	Nonsense_Mutation	DNP	TC	GT	GT	rs144664374		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7736237_7736238TC>GT	uc002giu.1	+	82	12983_12984	c.12969_12970TC>GT	c.(12967-12972)tatccc>taGTcc	p.4323_4324YP>*S		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4323					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTAGTGTATCCCCCCAAGGT	0.545000														156			47		0	0	1	0	0
SMCR7L	54471	broad.mit.edu	37	22	39908029	39908029	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:39908029C>T	uc003axw.3	+	3	817	c.320C>T	c.(319-321)aCa>aTa	p.T107I	SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axx.3_Missense_Mutation_p.T107I|SMCR7L_uc003axy.3_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	107						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					ACCTTCGACACAGGTGAGAAG	0.602000														65			14		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754487	49754488	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49754487_49754488CT>TA	uc003ozu.3	-	0	566_567	c.413_414AG>TA	c.(412-414)aag>aTA	p.K138I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	138					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTTTAATCTTCTTTCCAGAGGG	0.515000														97			6		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1558801	1558801	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1558801C>T	uc001agg.3	+	2	359	c.314C>T	c.(313-315)tCt>tTt	p.S105F	MIB2_uc001agh.3_Intron|MIB2_uc001agi.3_Missense_Mutation_p.S105F|MIB2_uc001agj.3_5'UTR|MIB2_uc001agk.3_Missense_Mutation_p.S105F|MIB2_uc001agl.2_Missense_Mutation_p.S4F|MIB2_uc001agm.3_Intron|MIB2_uc010nyq.2_Missense_Mutation_p.S4F|MIB2_uc009vkh.3_5'Flank|MIB2_uc001agn.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	48	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		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)		ATGGACCCCTCTGCCCACAGG	0.711000														25			6		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59195287	59195288	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:59195287_59195288CC>TT	uc010dps.1	+	5	1257_1258	c.1105_1106CC>TT	c.(1105-1107)cca>TTa	p.P369L	CDH20_uc002lif.2_Missense_Mutation_p.P363L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	369	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAACTTGGGCCCATTTCAGGAC	0.495000														78			6		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62854927	62854927	+	Silent	SNP	C	T	T	rs141234830		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:62854927C>T	uc002jey.2	-	11	5395	c.4779G>A	c.(4777-4779)acG>acA	p.T1593T	LRRC37A3_uc010wqg.1_Silent_p.T711T|LRRC37A3_uc002jex.1_Silent_p.T570T|LRRC37A3_uc010wqf.1_Silent_p.T631T|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1593						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TAATCAAAATCGTTAGTATTC	0.353000														39			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347783	140347783	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140347783A>T	uc003lii.3	+	0	2037	c.1432A>T	c.(1432-1434)Ata>Tta	p.I478L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.I478L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	478	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)			TTCCATCTACATACAGGAGAA	0.498000														134			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113812430	113812430	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:113812430C>T	uc003ynu.3	-	12	2092	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CSMD3_uc003ynt.3_Missense_Mutation_p.E605K|CSMD3_uc011lhx.2_Missense_Mutation_p.E541K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	645	CUB 3.					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						CCAACACTTTCGTCCGTTTGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				45			11		0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107545939	107545939	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107545939C>T	uc003vet.3	+	6	682	c.572C>T	c.(571-573)cCt>cTt	p.P191L	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Intron|DLD_uc011kmh.2_Missense_Mutation_p.P168L|DLD_uc011kmi.2_Missense_Mutation_p.P92L	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	191					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	p.P191P(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	ACTCCTTTTCCTGGAATCACG	0.353000														74			10		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142225965	142225965	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:142225965G>A	uc003ywd.1	-	5	1989	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S	SLC45A4_uc003ywc.1_Missense_Mutation_p.P561S|SLC45A4_uc010meq.1_Missense_Mutation_p.P559S	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	612					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGACGTTGGGAAACATGGCC	0.577000														49			6		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30930496	30930496	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:30930496T>C	uc009yjk.1	-	16	2328	c.2259A>G	c.(2257-2259)caA>caG	p.Q753Q	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.Q412Q|DCDC5_uc009yjj.2_5'Flank	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	384					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CACTTACTGGTTGATCAATGT	0.323000														40			7		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201185664	201185664	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:201185664G>A	uc001gwc.3	+	15	9508	c.9378G>A	c.(9376-9378)agG>agA	p.R3126R	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCCCCCAAGGGACAATGGGG	0.662000														18			3		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83674049	83674049	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:83674049C>T	uc001paj.2	-	8	1207	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	DLG2_uc001pai.2_Missense_Mutation_p.E251K|DLG2_uc010rsy.1_Missense_Mutation_p.E269K|DLG2_uc021qof.1_Missense_Mutation_p.E341K|DLG2_uc010rsz.1_Missense_Mutation_p.E302K|DLG2_uc010rta.1_Missense_Mutation_p.E302K|DLG2_uc001pak.2_Missense_Mutation_p.E407K|DLG2_uc010rtb.1_Missense_Mutation_p.E269K|DLG2_uc001pal.1_Missense_Mutation_p.E302K|DLG2_uc001pam.2_Missense_Mutation_p.E341K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	302						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)				AGATGGTTTTCCATTGGTGGA	0.413000														89			17		0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74193755	74193755	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:74193755C>T	uc003ubb.3	+	3	452	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	NCF1_uc010lbs.1_Missense_Mutation_p.P128S|NCF1_uc011kfh.1_Intron	NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	128					cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CCTCAAGCTCCCCACGGACAA	0.582000														22			8		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57512562	57512562	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:57512562G>A	uc003pdx.3	+	14	1474	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	464					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CATAAAGAAGGAATCTATCCA	0.408000														242			17		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137226257	137226257	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:137226257T>G	uc003lby.3	+	1	175	c.119T>G	c.(118-120)aTa>aGa	p.I40R	PKD2L2_uc010jep.1_5'UTR|PKD2L2_uc003lbw.1_Missense_Mutation_p.I40R|PKD2L2_uc003lbx.3_Missense_Mutation_p.I40R	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	40						integral to membrane	calcium ion binding|ion channel activity	p.L39*(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATTTTTTTAATAAACCTATGT	0.289000														36			7		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611640	50611640	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:50611640C>T	uc003tpg.4	-	1	345	c.144G>A	c.(142-144)caG>caA	p.Q48Q	DDC_uc022ade.1_Silent_p.Q48Q|DDC_uc003tpf.4_Silent_p.Q48Q|DDC_uc022adb.1_Silent_p.Q48Q|DDC_uc022adc.1_Silent_p.Q48Q|DDC_uc022add.1_Silent_p.Q48Q|DDC_uc022adf.1_Silent_p.Q48Q	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	48					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGTCTGGCTCCTGAGGGGCAG	0.557000														136			21		0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984012	5984012	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:5984012C>T	uc010cli.3	+	1	413	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	WSCD1_uc002gcn.3_Missense_Mutation_p.L12F|WSCD1_uc002gco.3_Missense_Mutation_p.L12F|WSCD1_uc010clj.3_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	12						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CCAGAAGTTTCTCCGCCGAAC	0.657000														63			7		0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24083481	24083481	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:24083481C>T	uc001bho.3	+	9	2261	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	734					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCAGCCATGCTTCCGCCAGT	0.582000														272			20		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866458	7866458	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:7866458G>A	uc002wmw.1	-	5	891	c.867C>T	c.(865-867)ttC>ttT	p.F289F	HAO1_uc010gbu.3_Silent_p.F289F	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	289	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						CCCCGTCCAGGAAGACTTCCA	0.493000														108			20		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584130	7584130	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7584130G>A	uc003mxp.1	+	23	6914	c.6635G>A	c.(6634-6636)gGa>gAa	p.G2212E	DSP_uc003mxq.1_Missense_Mutation_p.G1613E|DSP_uc021yle.1_Missense_Mutation_p.G1769E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2212	Globular 2.				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)		TCCTTCCAAGGAATCAGACAA	0.463000														68			6		0	0	1	0	0
ZNF238	10472	broad.mit.edu	37	1	244217908	244217908	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:244217908C>T	uc001iad.4	+	1	1005	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	ZNF238_uc001iae.3_Silent_p.L269L|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	269					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			GAGAAGCAACCTGGTGCAGGT	0.468000														60			8		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41949548	41949548	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:41949548G>A	uc010skn.2	+	6	1359	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	PDZRN4_uc001rmq.4_Missense_Mutation_p.D193N|PDZRN4_uc009zjz.3_Missense_Mutation_p.D191N|PDZRN4_uc001rmr.3_Missense_Mutation_p.D78N	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	451	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding	p.R450W(1)|p.R450R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCGAGAAGGGGATCGGATTTT	0.408000														58			6		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397267	51397267	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51397267C>T	uc001zyy.3	-	0	207	c.107G>A	c.(106-108)aGg>aAg	p.R36K		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	36										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CGTGGCATCCCTTGTGCCTTG	0.522000														92			15		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898892	175898892	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:175898892C>T	uc003iuc.3	+	4	2886	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F	ADAM29_uc003iud.3_Missense_Mutation_p.S739F|ADAM29_uc010irr.3_Missense_Mutation_p.S739F|ADAM29_uc011cki.2_Missense_Mutation_p.S739F|ADAM29_uc021xuo.1_Missense_Mutation_p.S739F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	739	9 X 9 AA approximate repeats.				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)		GTGATGCCTTCCCAGAGTCAA	0.527000														80			10		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018150	103018150	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103018150C>T	uc003vbz.3	-	17	2144	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	SLC26A5_uc003vbt.2_Missense_Mutation_p.E628K|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.E596K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	628	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTTTGCATTTCCTCAGGAAAT	0.423000														66			4		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003605	75003605	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:75003605G>A	uc004ecj.2	-	0	1475	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	428	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTAAATCTTCGAAGCAAGTTC	0.483000														76			17		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816291	156816291	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156816291G>A	uc021ygm.1	+	28	3437	c.3299G>A	c.(3298-3300)aGc>aAc	p.S1100N	CYFIP2_uc011ddn.2_Missense_Mutation_p.S1075N|CYFIP2_uc011ddo.2_Missense_Mutation_p.S905N|CYFIP2_uc021ygn.1_Missense_Mutation_p.S1100N|CYFIP2_uc021ygo.1_Missense_Mutation_p.S1100N|CYFIP2_uc003lwt.3_Missense_Mutation_p.S1004N|CYFIP2_uc011ddp.2_Missense_Mutation_p.S835N	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1126					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)			CGCATTCGGAGCTACCTGCAG	0.632000														28			5		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447771	138447771	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138447771C>T	uc003vuf.3	-	5	530	c.292_splice	c.e5-1	p.T98_splice	ATP6V0A4_uc003vug.3_Splice_Site_p.T98_splice|ATP6V0A4_uc003vuh.3_Splice_Site_p.T98_splice	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	98					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTAGAACAGTCTATGCAGGAA	0.408000														61			12		0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282978	39282978	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39282978C>T	uc003oor.4	-	4	905	c.891G>A	c.(889-891)tgG>tgA	p.W297*	KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Intron|KCNK16_uc010jwy.3_Intron	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCAAAATTTCCAGGCCCCGG	0.577000														39			3		0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44174915	44174915	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:44174915C>T	uc002rtr.2	-	19	1979	c.1921_splice	c.e19-1	p.D641_splice	LRPPRC_uc010yob.1_Splice_Site_p.D541_splice	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	641					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTGAGCATCCTAAAATTGAA	0.299000														25			3		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100385644	100385644	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100385644C>T	uc003uwj.3	+	38	7275	c.7110C>T	c.(7108-7110)ctC>ctT	p.L2370L	ZAN_uc003uwk.3_Silent_p.L2370L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.L421L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2371	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGAGCCCCTCCTCGTGGAAG	0.552000														75			4		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924330	188924330	+	Missense_Mutation	SNP	G	A	A	rs141008020		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:188924330G>A	uc003izh.1	+	3	777	c.369G>A	c.(367-369)atG>atA	p.M123I	ZFP42_uc003izi.1_Missense_Mutation_p.M123I|ZFP42_uc021xvm.1_Missense_Mutation_p.M123I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	123					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGAATACATGAAAAAAGGGG	0.408000														72			22		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988028	92988028	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:92988028C>T	uc002bra.3	+	4	866	c.711C>T	c.(709-711)atC>atT	p.I237I	ST8SIA2_uc002brb.3_Silent_p.I216I	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	237					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.I237I(2)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			ATGGCAGCATCCTGTGGATCC	0.612000														35			6		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900909	40900909	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:40900909G>A	uc002onr.3	-	6	3619	c.3350C>T	c.(3349-3351)gCc>gTc	p.A1117V	PRX_uc002onq.3_Missense_Mutation_p.A978V|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1117	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCACTGACGGCCACAGCCCC	0.667000														65			12		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121625524	121625524	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:121625524G>A	uc003pyo.1	-	7	990	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	308					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TCTGGATGACGAATCCAGAAA	0.398000														48			11		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655635	40655635	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40655635C>T	uc002rrx.3	-	0	1810	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	SLC8A1_uc002rry.3_Missense_Mutation_p.E596K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E596K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E596K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E596K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E596K|SLC8A1_uc010fan.1_Missense_Mutation_p.E596K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E596K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	596	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTGGAATTCGAGCTCTCCA	0.423000														28			5		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117560981	117560981	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117560981T>A	uc010oxb.1	+	5	1874	c.1816T>A	c.(1816-1818)Ttc>Atc	p.F606I	CD101_uc009whd.3_Missense_Mutation_p.F606I|CD101_uc010oxc.1_Missense_Mutation_p.F606I|CD101_uc010oxd.1_Missense_Mutation_p.F544I	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	606	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATGGGGGAATTTCCTATCCCG	0.488000														87			6		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360233	27360233	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:27360233C>T	uc002rjb.2	-	2	1545	c.965G>A	c.(964-966)gGg>gAg	p.G322E	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.G322E	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	322										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGAGGCCCTGCTTCCTT	0.672000														76			4		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177071078	177071078	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:177071078G>A	uc003iuj.3	+	14	2393	c.2090G>A	c.(2089-2091)aGa>aAa	p.R697K	WDR17_uc003ium.4_Missense_Mutation_p.R673K|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_5'Flank	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	697										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)		CTGGCAGACAGATCTTGGGAA	0.383000														102			8		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269686	150269686	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150269686A>G	uc003whl.3	+	2	610	c.528A>G	c.(526-528)caA>caG	p.Q176Q	GIMAP4_uc011kuu.2_Silent_p.Q37Q|GIMAP4_uc011kuv.2_Silent_p.Q190Q	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	176							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACATTCAAGACTTGATGG	0.493000														109			6		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848526	73848526	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:73848526G>A	uc003xzb.3	+	2	1524	c.936G>A	c.(934-936)ctG>ctA	p.L312L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	312					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCAGGATCCTGAAACTCGCCA	0.522000														56			9		0	0	1	0	0
GLUL	2752	broad.mit.edu	37	1	182357711	182357711	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:182357711C>T	uc001gpa.2	-	1	405	c.162G>A	c.(160-162)gtG>gtA	p.V54V	GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Silent_p.V54V|GLUL_uc001gpc.2_Silent_p.V54V|GLUL_uc001gpd.2_Silent_p.V54V	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	54					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	Golgi apparatus|cytosol|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TCTCACCTTCCACACACTTGG	0.567000														56			9		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647405	81647405	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81647405C>T	uc001szl.1	+	14	2042	c.1951C>T	c.(1951-1953)Ccc>Tcc	p.P651S	ACSS3_uc001szm.1_Missense_Mutation_p.P650S|ACSS3_uc001szn.1_Missense_Mutation_p.P333S	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	651						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGCAAGATCCCCCGATCAGC	0.393000														72			4		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774853	24774853	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:24774853G>A	uc003xed.4	+	2	1518	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	NEFM_uc011lac.1_Silent_p.K495K|NEFM_uc010lue.3_Silent_p.K119K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	495	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)		cagaagaaaaggaagaggaac	0.468000														14			3		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078665	22078665	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:22078665G>A	uc010iuc.2	-	1	579	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	CDH12_uc011cno.1_Missense_Mutation_p.H41Y|CDH12_uc003jgk.2_Missense_Mutation_p.H41Y	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	41					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTGGCAGATGGATAACATTT	0.483000										HNSCC(59;0.17)				134			36		0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43473430	43473430	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43473430C>T	uc001zqr.3	+	12	1817	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	TMEM62_uc010bda.3_Missense_Mutation_p.S348F	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	513						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TGCTGCTTTTCCTTTGGGATA	0.338000														133			16		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15354213	15354213	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15354213G>A	uc002nar.3	-	13	2889	c.2667C>T	c.(2665-2667)gcC>gcT	p.A889A		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	889					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTGGTGACACGGCTGGGGGCC	0.677000			T	C15orf55	lethal midline carcinoma of young people									8			3		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411176	83411176	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:83411176G>A	uc004eej.2	-	2	201	c.165C>T	c.(163-165)atC>atT	p.I55I	RPS6KA6_uc011mqt.2_Silent_p.I55I|RPS6KA6_uc011mqu.2_5'UTR|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	55					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						GAGTAATAGGGATTTCTTTAA	0.363000														6			4		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759924	196759924	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196759924C>T	uc002utj.4	-	29	4773	c.4672G>A	c.(4672-4674)Ggg>Agg	p.G1558R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1558					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATTTTACCCCAGGAAACAAA	0.308000														44			5		0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36807398	36807398	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:36807398G>A	uc001cak.1	-	11	1673	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	STK40_uc001cal.1_Silent_p.S427S|STK40_uc001cam.1_Silent_p.S422S|STK40_uc001can.1_3'UTR	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	422						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCGTGTCCAAGGAGGTCATGG	0.672000														99			14		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159091	130159091	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:130159091A>T	uc010htj.1	+	34	6403	c.5909A>T	c.(5908-5910)aAt>aTt	p.N1970I	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.N9I|COL6A5_uc010htk.1_Missense_Mutation_p.N9I	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	1970	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCATAGACAATTCTCGGAAT	0.398000														24			7		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023511	206023511	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:206023511C>T	uc002var.2	+	10	1707	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PARD3B_uc010fub.2_Silent_p.P500P|PARD3B_uc002vao.2_Silent_p.P500P|PARD3B_uc002vap.2_Intron|PARD3B_uc002vaq.2_Silent_p.P500P	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	500	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTGAGATCCCCCTGAATGATT	0.468000														93			20		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388943	4388943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4388943G>A	uc010qye.2	-	0	674	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R195*(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTTATTCGAATGTCATTA	0.338000														57			5		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243763	117243763	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117243763G>A	uc003vjd.3	+	16	2967	c.2835G>A	c.(2833-2835)tcG>tcA	p.S945S	CFTR_uc011knq.2_Silent_p.S351S	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	945	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.S945S(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCACAGTGTCGAAAATTTTAC	0.398000									Cystic Fibrosis					92			11		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112655	248112655	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248112655C>T	uc001idt.1	+	0	496	c.496C>T	c.(496-498)Cct>Tct	p.P166S	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTCCATATTCCTTATTGCCG	0.483000														72			14		0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46879771	46879771	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46879771G>T	uc002pem.3	+	3	676	c.573G>T	c.(571-573)atG>atT	p.M191I	PPP5C_uc002pen.3_Missense_Mutation_p.M191I|PPP5C_uc010xya.2_Missense_Mutation_p.M58I	NM_006247	NP_006238	P53041	PPP5_HUMAN	Homo sapiens protein phosphatase 5, catalytic subunit (PPP5C), transcript variant 1, mRNA.	191	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCAGTTTCATGAAGGAGCTCA	0.532000														51			7		1.06961e-07	1.07997e-07	1	1	0
CENPF	1063	broad.mit.edu	37	1	214828663	214828663	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:214828663C>T	uc001hkm.3	+	16	8576	c.8402C>T	c.(8401-8403)tCc>tTc	p.S2801F		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2897	Sufficient for centromere localization.|Sufficient for self-association.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGATCAAATCCTGTAAACAG	0.398000														37			7		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985924	108985924	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:108985924G>A	uc001tng.3	-	1	399	c.236C>T	c.(235-237)cCc>cTc	p.P79L	TMEM119_uc021rdl.1_Missense_Mutation_p.P79L	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	79						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GTTGGTGGGGGGTGATGGGCC	0.657000														70			7		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502729	91502729	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:91502729G>A	uc001tbm.3	-	1	417	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	10					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						ATCAATGCCAGGAAGAGAGTA	0.333000														39			4		0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51518161	51518161	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51518161G>A	uc002pva.3	-	5	846	c.726C>T	c.(724-726)atC>atT	p.I242I	KLK10_uc002puy.3_Silent_p.I242I|KLK10_uc002puz.3_Silent_p.I242I	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	242	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCCACGAGAGGATGCCTTGGA	0.547000														63			6		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198634	15198634	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15198634G>A	uc010xoe.2	+	0	758	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CTGTCCTATGGGACCATCTTT	0.542000														41			6		0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	863484	863484	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:863484T>A	uc010uut.2	+	2	832	c.832T>A	c.(832-834)Tgt>Agt	p.C278S		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	Homo sapiens proline rich 25 (PRR25), mRNA.	278										large_intestine(1)|lung(1)|skin(1)	3						TCGGCCATCATGTGCGAATGT	0.682000														14			3		0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12814300	12814300	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:12814300C>T	uc002mup.3	-	17	2889	c.2427G>A	c.(2425-2427)gaG>gaA	p.E809E	TNPO2_uc002muq.3_Silent_p.E717E|TNPO2_uc002muo.3_Silent_p.E717E|TNPO2_uc002mur.3_Silent_p.E717E	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	717					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGAGATGAACTCTGGGTTCA	0.597000														112			22		0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74114672	74114672	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74114672G>A	uc001jsz.2	-	0	236	c.86C>T	c.(85-87)cCg>cTg	p.P29L	DNAJB12_uc001jta.2_Missense_Mutation_p.P29L|DNAJB12_uc010qjv.1_Missense_Mutation_p.P29L	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	0					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						ACCAGAACGCGGAACCAGGGA	0.697000														56			4		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964358	6964358	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6964358A>C	uc001mey.3	+	4	1116	c.528A>C	c.(526-528)gaA>gaC	p.E176D	ZNF215_uc010raw.2_Intron|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.E176D	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	176	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCAGCAAGGAAGAGTGGGGGC	0.413000														116			19		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130005589	130005589	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:130005589C>T	uc010sby.2	+	12	1973	c.1816C>T	c.(1816-1818)Cca>Tca	p.P606S	APLP2_uc001qfp.3_Missense_Mutation_p.P606S|APLP2_uc001qfq.3_Missense_Mutation_p.P550S|APLP2_uc010sbz.2_Missense_Mutation_p.P394S|APLP2_uc001qfr.3_Missense_Mutation_p.P372S|APLP2_uc001qfs.3_Missense_Mutation_p.P377S|APLP2_uc021qsg.1_Missense_Mutation_p.P616S|APLP2_uc001qfv.3_Missense_Mutation_p.P497S|DQ600312_uc021qsh.1_5'Flank	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	606					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCACCCCTTCCCAGCCCTACC	0.567000														60			4		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566366	5566366	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5566366G>A	uc010qzh.2	-	0	388	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	130			H -> R (in dbSNP:rs1566275).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D129N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATAGTGATCAAATGCC	0.453000														71			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21042447	21042447	+	Missense_Mutation	SNP	G	A	A	rs146173789		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21042447G>A	uc010vbe.2	-	36	5359	c.5359C>T	c.(5359-5361)Cgc>Tgc	p.R1787C		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1787	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCACTTGCGATCATCAGAG	0.458000														62			6		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97028545	97028545	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:97028545G>A	uc001kkh.3	-	2	432	c.323C>T	c.(322-324)tCt>tTt	p.S108F		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	108					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTGGGGTTCAGAGGCTAAATT	0.498000														79			6		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110588104	110588104	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110588104G>A	uc010mcp.3	-	7	1385	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	SYBU_uc003yni.4_Silent_p.I338I|SYBU_uc003ynk.4_Silent_p.I222I|SYBU_uc003ynj.4_Silent_p.I341I|SYBU_uc010mco.3_Silent_p.I340I|SYBU_uc003ynl.4_Silent_p.I340I|SYBU_uc010mcq.3_Silent_p.I341I|SYBU_uc003yno.4_Silent_p.I222I|SYBU_uc010mcr.3_Silent_p.I341I|SYBU_uc003ynm.4_Silent_p.I340I|SYBU_uc003ynn.4_Silent_p.I340I|SYBU_uc010mcs.3_Silent_p.I222I|SYBU_uc010mct.3_Silent_p.I341I|SYBU_uc010mcu.3_Silent_p.I340I|SYBU_uc003ynp.4_Silent_p.I273I|SYBU_uc010mcv.3_Silent_p.I341I|SYBU_uc003ynh.4_Silent_p.I135I|SYBU_uc011lhw.2_Silent_p.I211I	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	341	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCATGGTTTCGATGACCTGTT	0.468000														72			17		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284686	130284686	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:130284686G>A	uc001qgg.4	-	4	1664	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	436				YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGCCTGTGGGGAGGGGCAGG	0.652000														35			16		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032495	65032495	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:65032495G>A	uc002eoi.3	-	3	927	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.H165Y|CDH11_uc010vin.2_Missense_Mutation_p.H39Y|CDH11_uc010vio.1_Missense_Mutation_p.H165Y	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	165	Cadherin 2.				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)		ACGTTGGCATGATAGGTCTCG	0.597000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				72			15		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114082606	114082606	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:114082606G>A	uc004epu.1	+	4	1118	c.390G>A	c.(388-390)tgG>tgA	p.W130*	HTR2C_uc010nqc.1_Nonsense_Mutation_p.W130*|HTR2C_uc004epv.1_Nonsense_Mutation_p.W130*	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	130					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GCCCCGTCTGGATTTCTTTAG	0.423000														78			22		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184056	72184056	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:72184056C>T	uc003xyu.3	-	9	1543	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_uc003xyt.4_Silent_p.G268G|EYA1_uc003xyr.4_Silent_p.G296G|EYA1_uc010lzf.3_Silent_p.G228G|EYA1_uc003xys.4_Silent_p.G301G|EYA1_uc011lfe.2_Silent_p.G295G|EYA1_uc003xyv.3_Silent_p.G179G	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	301					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G301W(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACGTGATTTCCCATCTGAAC	0.468000														168			18		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035195	58035195	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58035195G>A	uc001nmq.1	-	0	538	c.136C>T	c.(136-138)Cta>Tta	p.L46L		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GATGTGCATAGACAGGTTTCT	0.478000														63			8		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471527	121471527	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:121471527C>T	uc001tzj.1	-	1	224	c.218G>A	c.(217-219)gGc>gAc	p.G73D	OASL_uc001tzk.1_Missense_Mutation_p.G73D	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	73					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAACCGTGCCATTCCCGAA	0.597000														92			10		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49012224	49012224	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49012224C>T	uc002pjk.3	-	5	528	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCCCAGGATCACCTGGTCAA	0.667000														49			10		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131404772	131404772	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:131404772C>T	uc011blq.2	-	5	702	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	CPNE4_uc003eok.3_Missense_Mutation_p.E180K|CPNE4_uc003eol.3_Missense_Mutation_p.E198K|CPNE4_uc003eom.3_Missense_Mutation_p.E180K	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	180	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CGAAAAATTTCCAGAAATGGG	0.383000														32			9		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155560	111155560	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:111155560G>A	uc004epl.1	-	2	1778	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	TRPC5_uc004epm.1_Silent_p.L287L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	287					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						AACTTGGCCAGGTCATGGTAC	0.517000														92			17		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99799644	99799644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:99799644G>A	uc010msi.3	-	3	493	c.286C>T	c.(286-288)Cga>Tga	p.R96*	CTSL2_uc004awt.3_Nonsense_Mutation_p.R96*|CTSL2_uc004awu.3_Nonsense_Mutation_p.R41*|CTSL2_uc010msj.2_Nonsense_Mutation_p.R41*|CTSL2_uc010msk.3_Nonsense_Mutation_p.R41*	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	96						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TTCTGGTTTCGAAAGCAACCC	0.423000														64			19		0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151292436	151292436	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:151292436A>T	uc003wkk.3	-	5	1470	c.859T>A	c.(859-861)Tta>Ata	p.L287I	PRKAG2_uc003wki.3_Missense_Mutation_p.L46I|PRKAG2_uc011kvl.2_Missense_Mutation_p.L162I|PRKAG2_uc003wkj.3_Missense_Mutation_p.L243I|PRKAG2_uc003wkl.2_Missense_Mutation_p.L26I|PRKAG2_uc010lqe.1_Non-coding_Transcript	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	287	CBS 1.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CTTACTTGTAATGTAGTATCA	0.353000														35			8		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125625	12125625	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:12125625C>T	uc003nac.3	+	3	5776	c.5597C>T	c.(5596-5598)tCa>tTa	p.S1866L	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.	1866					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)				TCATCCACATCATTAACTCTT	0.363000														62			19		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42135969	42135969	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42135969G>A	uc001zoo.4	+	15	1572	c.1532G>A	c.(1531-1533)aGg>aAg	p.R511K	JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.R511K|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.R280K|JMJD7-PLA2G4B_uc001zor.1_5'UTR	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	280	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GCGGCCTTGAGGCAGGCCCTG	0.687000														54			9		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68995569	68995569	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:68995569C>T	uc003xxv.1	+	17	2000	c.1973C>T	c.(1972-1974)tCg>tTg	p.S658L	PREX2_uc003xxu.1_Missense_Mutation_p.S658L|PREX2_uc011lez.1_Missense_Mutation_p.S593L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	658	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						TTCCTGAAATCGTGTTTAAAC	0.353000														41			8		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82430892	82430892	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82430892C>T	uc003uhx.2	-	21	15238	c.14949G>A	c.(14947-14949)caG>caA	p.Q4983Q		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4906	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q4983Q(3)|p.Q4983L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGTCCATTCTGTCCCATCT	0.348000														43			9		0	0	1	0	0
TMEM14B	81853	broad.mit.edu	37	6	10751400	10751400	+	Silent	SNP	C	T	T	rs115801751	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:10751400C>T	uc003mzk.4	+	3	299	c.135C>T	c.(133-135)ttC>ttT	p.F45F	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jor.3_Intron|TMEM14B_uc010jos.1_Intron	NM_030969	NP_112231	Q9NUH8	TM14B_HUMAN	Homo sapiens transmembrane protein 14B (TMEM14B), transcript variant 1, mRNA.	45						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GGCTGCTCTTCGGCAGTCTAG	0.542000														72			7		0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96443176	96443176	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:96443176C>A	uc003kmy.4	-	2	515	c.275G>T	c.(274-276)cGg>cTg	p.R92L		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	92								p.R92L(2)|p.R92W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		AGCTGCATCCCGCCTGGCCTC	0.493000														56			5		0.00116845	0.00117269	1	1	0
SEC61A1	29927	broad.mit.edu	37	3	127785858	127785858	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:127785858C>T	uc003ekb.3	+	8	1023	c.839C>T	c.(838-840)cCc>cTc	p.P280L	RUVBL1_uc003ekf.3_Intron|SEC61A1_uc003ekc.3_Missense_Mutation_p.P227L|SEC61A1_uc003ekd.3_Missense_Mutation_p.P160L|SEC61A1_uc003ekg.3_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	280					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AACACCTATCCCATCAAGCTC	0.537000														85			7		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44249922	44249922	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:44249922G>A	uc003oxi.2	-	3	1377	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	407										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGGAGTGTGGCGGTGGGCT	0.602000														67			6		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704306	68704306	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68704306C>T	uc001ook.1	+	12	2460	c.2358C>T	c.(2356-2358)gcC>gcT	p.A786A	IGHMBP2_uc001ool.1_Silent_p.A410A|IGHMBP2_uc001oom.1_Silent_p.A364A	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	786	R3H.				DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding	p.A786T(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCAAGAGGGCCCCGCGACCCC	0.687000														39			7		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839442	15839442	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15839442G>A	uc002nbm.2	+	0	609	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	197					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)					ACCAGCTGTGGCCCTGGGCGT	0.502000														74			20		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158114663	158114663	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:158114663C>T	uc002tzg.3	+	0	324	c.69C>T	c.(67-69)gtC>gtT	p.V23V	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	23					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAGCTTCTGTCATCTGGCTCC	0.507000														106			7		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255046	35255046	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:35255046G>A	uc001wsk.3	-	13	2336	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	BAZ1A_uc001wsl.3_Missense_Mutation_p.R558C	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	590					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			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)		TTGCTCAAACGAAGCTCCATA	0.418000														54			13		0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86817410	86817410	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:86817410T>C	uc003uih.3	+	12	1530	c.1204T>C	c.(1204-1206)Tta>Cta	p.L402L	DMTF1_uc003uii.3_Silent_p.L136L|DMTF1_uc003uij.3_Silent_p.L136L|DMTF1_uc011khb.2_Silent_p.L314L|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Silent_p.L402L|DMTF1_uc003uin.3_Silent_p.L136L	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	402	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CCCTTCAGTCTTAATAAAAGG	0.413000														44			6		0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22508914	22508914	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22508914G>A	uc021rpo.1	+	0	72	c.6G>A	c.(4-6)gaG>gaA	p.E2E	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		CCAGCATGGAGAAAATGTTGG	0.418000														87			8		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50574211	50574211	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50574211C>T	uc010qgq.2	-	5	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	DRGX_uc021pqd.1_Missense_Mutation_p.E248K	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	253					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GAGGTCTTTTCCTGGCTGCCA	0.672000														79			16		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4953920	4953920	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4953920A>G	uc002cyd.1	-	2	374	c.284T>C	c.(283-285)aTg>aCg	p.M95T		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	95					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGGGTGCTTCATGTGCTTGGC	0.632000														92			15		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262304	61262304	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61262304C>T	uc010xep.2	+	6	852	c.684C>T	c.(682-684)tcC>tcT	p.S228S	SERPINB13_uc002ljc.3_Silent_p.S219S|SERPINB13_uc002ljd.3_Silent_p.S83S|SERPINB13_uc010xeq.2_Silent_p.S40S|SERPINB13_uc010xer.2_Silent_p.S40S	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	219					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGAGCCATTCCTTTAGCTTCA	0.423000														62			6		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132162218	132162218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:132162218G>A	uc011mvf.2	-	0	83	c.31C>T	c.(31-33)Caa>Taa	p.Q11*	USP26_uc010nrm.1_Nonsense_Mutation_p.Q11*	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	11					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCCCTATTTGGACAAAACCA	0.358000														24			7		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081232	152081232	+	Silent	SNP	G	A	A	rs71585886		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152081232G>A	uc009wne.1	-	2	4733	c.4461C>T	c.(4459-4461)ttC>ttT	p.F1487F	TCHH_uc001ezp.2_Silent_p.F1487F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1487	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.K1486E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCAGGAATTTTCTGT	0.557000														154			16		0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40699896	40699896	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40699896C>T	uc001zls.3	+	1	547	c.213C>T	c.(211-213)atC>atT	p.I71I	IVD_uc001zlq.2_Intron	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	68					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CCCAGGAGATCGATCGCAGCA	0.582000														75			10		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883641	28883641	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:28883641C>T	uc002dri.3	+	8	2083	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Silent_p.S238S|SH2B1_uc002drj.3_Silent_p.S548S|SH2B1_uc002drk.3_Silent_p.S548S|SH2B1_uc002drl.3_Silent_p.S548S|SH2B1_uc010vdd.2_Silent_p.S212S|SH2B1_uc010vde.2_Silent_p.S548S|SH2B1_uc002drm.3_Silent_p.S548S	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	548	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GCACTGGCTCCCACGGTGTCT	0.627000														51			7		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979474	55979474	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:55979474G>A	uc003has.3	-	6	1275	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	KDR_uc003hat.1_Missense_Mutation_p.H325Y|KDR_uc011bzx.2_Missense_Mutation_p.H325Y	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	325					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTTACCATGGACCCTGACA	0.403000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				62			8		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135628	46135628	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46135628C>T	uc003oxz.1	-	1	580	c.372G>A	c.(370-372)tgG>tgA	p.W124*	ENPP5_uc010jzc.1_Nonsense_Mutation_p.W124*|ENPP5_uc011dvz.1_Nonsense_Mutation_p.W30*|ENPP5_uc003oya.1_Nonsense_Mutation_p.W124*	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	124						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GGTTTGTGATCCATATTGGTG	0.408000														91			15		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584581	138584581	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:138584581G>A	uc003qhu.3	+	11	2132	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	654	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R583Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGGTCCCTGCGAACTGCCGCC	0.617000														79			7		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503639	40503639	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:40503639C>T	uc002lav.3	-	3	497	c.324G>A	c.(322-324)caG>caA	p.Q108Q	RIT2_uc010dnf.3_Silent_p.Q108Q	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	108					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCAGCCTCCTGAAATGATT	0.507000														261			37		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843681	215843681	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:215843681G>A	uc002vew.3	-	31	5044	c.4824C>T	c.(4822-4824)ctC>ctT	p.L1608L	ABCA12_uc002vev.3_Silent_p.L1290L|ABCA12_uc010zjn.2_Silent_p.L535L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1608					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TATCCTCCTTGAGGTAGGCTT	0.483000														61			13		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632707	158632707	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158632707G>A	uc001fst.1	-	16	2448	c.2249C>T	c.(2248-2250)gCt>gTt	p.A750V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	750					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAAATATGCAGCCAGGTCTGT	0.433000														42			11		0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496110	6496110	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6496110G>A	uc002mfg.1	-	3	507	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TUBB4A_uc002mff.1_Nonsense_Mutation_p.Q62*	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	134					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TGGGTCAGCTGGAAGCCCTGA	0.642000														71			11		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2024075	2024076	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2024075_2024076CC>TT	uc021qsx.1	-	1	484_485	c.253_254GG>AA	c.(253-255)ggc>AAc	p.G85N	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.G85N	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	85						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGGTCCCCGCCGAAGGTGTCA	0.545000														47			9		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408224	2408224	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:2408224G>A	uc022brx.1	-	0	537	c.537C>T	c.(535-537)gcC>gcT	p.A179A	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.A179A|ZBED1_uc004cqg.2_Silent_p.A179A|ZBED1_uc022brw.1_Silent_p.A179A	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	179						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.A179A(2)|p.G178W(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTCCCGGACGGCCCCGTACT	0.627000														155			28		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784540	151784540	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:151784540G>A	uc003luv.2	-	0	301	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	45					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACACGGGGAGGAAGAAGTGGC	0.547000														61			5		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836735	23836735	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:23836735G>A	uc002nri.3	-	3	1182	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	334					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)				TCTCCAGTATGAATTCTCTTA	0.368000														39			6		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58204901	58204901	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:58204901C>T	uc001sqj.2	-	3	377	c.348G>A	c.(346-348)caG>caA	p.Q116Q	AVIL_uc009zqe.2_Silent_p.Q109Q|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Silent_p.Q93Q|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	116	Core (By similarity).|Polyphosphoinositide binding (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)					CGACACCCCCCTGCTTGTAGC	0.517000														101			8		0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75941881	75941881	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75941881C>T	uc002bau.3	+	0	534	c.438C>T	c.(436-438)tcC>tcT	p.S146S	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	146					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TCAACCTCTCCTACCCTGGTG	0.657000														60			14		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33504138	33504138	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:33504138C>T	uc002hja.3	+	15	2231	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	UNC45B_uc002hjb.3_Missense_Mutation_p.P710S|UNC45B_uc002hjc.3_Missense_Mutation_p.P710S|UNC45B_uc010cto.3_Missense_Mutation_p.P631S	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	712					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)				CATTGCTTTTCCTGGGGAGCG	0.577000														42			14		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210194391	210194391	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:210194391C>T	uc001hhs.4	+	4	427	c.369C>T	c.(367-369)tcC>tcT	p.S123S	SYT14_uc001hht.4_Silent_p.S78S|SYT14_uc010psn.2_Silent_p.S123S|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Silent_p.S40S|SYT14_uc009xcv.3_Silent_p.S78S	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	78						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TAGATAATTCCTACATGGACA	0.408000														53			10		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940274	144940274	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144940274G>T	uc003zaa.1	-	0	7161	c.7148C>A	c.(7147-7149)aCc>aAc	p.T2383N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2383						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)			GAAGCCCTTGGTGTCGTCGCT	0.652000														511			9		1.58986e-06	1.60388e-06	1	1	0
RNF24	11237	broad.mit.edu	37	20	3914733	3914733	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:3914733G>A	uc002wkj.2	-	5	564	c.424C>T	c.(424-426)Cct>Tct	p.P142S	RNF24_uc002wkh.2_Missense_Mutation_p.P142S|RNF24_uc002wki.2_Missense_Mutation_p.P163S	NM_001134337	NP_009150	Q9Y225	RNF24_HUMAN	Homo sapiens ring finger protein 24 (RNF24), transcript variant 2, mRNA.	142						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TCTGCCCCAGGAAGGGGCCCC	0.567000														84			16		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71437568	71437568	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:71437568G>A	uc004agu.3	+	3	343	c.38G>A	c.(37-39)gGa>gAa	p.G13E	PIP5K1B_uc011lrq.2_Missense_Mutation_p.G13E|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	13						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCAGCACCTGGAAAACAAAAT	0.353000														57			13		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118298	120118298	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:120118298G>A	uc003yoo.3	+	5	799	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	234	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			ATAGCAACTGGAATGAGGGGG	0.507000														52			10		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369482	86369482	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:86369482T>G	uc001vll.1	-	1	1621	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P	SLITRK6_uc021rla.1_Missense_Mutation_p.T388P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	388						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTTCCAAAGTGAAATATTCC	0.358000														39			5		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026137	56026137	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:56026137C>T	uc021wzo.1	-	9	2343	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	ERC2_uc003dhr.1_Missense_Mutation_p.E735K|ERC2_uc003dht.1_Missense_Mutation_p.E218K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	735						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCTCCACCTCCTTGAGGATC	0.468000														141			27		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663604	44663604	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44663604G>A	uc010zxl.1	+	1	215	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	SLC12A5_uc002xra.2_Missense_Mutation_p.E24K|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.E24K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	47					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)	CAACCCCAAGGAAAGCAGTCC	0.542000														102			8		0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114267420	114267420	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:114267420G>A	uc009wgp.1	-	5	1036	c.584C>T	c.(583-585)cCc>cTc	p.P195L	PHTF1_uc001edn.3_Missense_Mutation_p.P195L	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAATAATGGGTACAGATTC	0.358000														65			15		0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63450376	63450376	+	Silent	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:63450376T>G	uc010qik.2	+	3	590	c.285T>G	c.(283-285)acT>acG	p.T95T		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	95										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TGATAGGAACTGAGGTAAGTA	0.348000														43			4		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208263	50208263	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50208263G>A	uc010eng.3	+	9	1088	c.772_splice	c.e9-1	p.D258_splice	CPT1C_uc002ppl.4_Splice_Site_p.D224_splice|CPT1C_uc002ppi.3_Splice_Site_p.D175_splice|CPT1C_uc002ppk.3_Intron|CPT1C_uc010enh.3_Splice_Site_p.D258_splice|CPT1C_uc002ppj.3_Splice_Site_p.D258_splice|CPT1C_uc010ybc.1_Splice_Site_p.D96_splice|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	258					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGTCCCCAGGACTTCCTGT	0.622000														38			11		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30138786	30138786	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30138786G>A	uc010jrx.3	+	6	1359	c.880_splice	c.e6+1	p.G294_splice		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	294	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATAGATTCAGGTAAACAGCTT	0.428000														146			5		0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44591126	44591126	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44591126C>T	uc002oyg.1	+	4	1711	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418000														34			5		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167297987	167297987	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:167297987G>A	uc002udu.2	-	13	2206	c.2076C>T	c.(2074-2076)acC>acT	p.T692T	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	692					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E691Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGTCCCACAAGGTCTCTACCC	0.433000														42			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633550	179633550	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179633550C>T	uc021vsy.1	-	37	9238	c.9013G>A	c.(9013-9015)Ggt>Agt	p.G3005S	TTN_uc021vsz.1_Missense_Mutation_p.G2959S|TTN_uc021vta.1_Missense_Mutation_p.G2959S|TTN_uc021vtb.1_Missense_Mutation_p.G2959S|TTN_uc002unb.2_Missense_Mutation_p.G3005S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3005	Ig-like 17.						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)			ATTTCCACACCATTCTTTAAC	0.403000														29			7		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134112	128134112	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128134112C>T	uc011ebt.2	-	3	1823	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	THEMIS_uc010kfa.3_Silent_p.P461P|THEMIS_uc021zfa.1_Silent_p.P558P|THEMIS_uc010kfb.3_Silent_p.P523P	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	558					T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGGGTGTTTCGGAGGGCGAG	0.483000														110			8		0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778752	111778752	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:111778752G>A	uc001eam.3	+	6	783	c.712G>A	c.(712-714)Ggg>Agg	p.G238R	CHI3L2_uc001ean.3_Missense_Mutation_p.G228R|CHI3L2_uc001eao.3_Missense_Mutation_p.G159R	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	238					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GCAGGACAGAGGGCCAAGCTC	0.577000														50			11		0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5939209	5939209	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:5939209A>T	uc002wmk.3	+	6	1003	c.626A>T	c.(625-627)aAt>aTt	p.N209I	MCM8_uc002wmi.3_Missense_Mutation_p.N209I|MCM8_uc002wmj.3_Missense_Mutation_p.N209I|MCM8_uc002wml.3_Missense_Mutation_p.N209I|MCM8_uc010gbp.3_Missense_Mutation_p.N209I	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	209					DNA strand elongation involved in DNA replication|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 transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CAGCTCAAGAATGTCAGAGCA	0.358000														48			6		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46307470	46307470	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:46307470C>T	uc002xto.3	-	7	1473	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	SULF2_uc002xtr.3_Missense_Mutation_p.M381I|SULF2_uc002xtq.3_Missense_Mutation_p.M381I	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	381					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATTTCCCGTCCATATCCGCAG	0.627000														171			23		0	0	1	0	0
INPP1	3628	broad.mit.edu	37	2	191231568	191231568	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:191231568C>T	uc002ury.4	+	4	1113	c.413C>T	c.(412-414)tCc>tTc	p.S138F	INPP1_uc010fsb.3_Missense_Mutation_p.S138F|INPP1_uc002urx.4_Missense_Mutation_p.S138F	NM_001128928	NP_002185	P49441	INPP_HUMAN	Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA.	138					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ACTCTGGATTCCACAGAGATC	0.418000														80			9		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31583432	31583432	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31583432G>A	uc002wyi.3	-	7	620	c.527C>T	c.(526-528)tCc>tTc	p.S176F		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	176					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CACCTCATCGGACATGGCTTC	0.483000														146			6		0	0	1	0	0
TMEM31	203562	broad.mit.edu	37	X	102967189	102967189	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:102967189G>A	uc004elh.3	+	1	194	c.3G>A	c.(1-3)atG>atA	p.M1I	GLRA4_uc011mse.2_Intron	NM_182541	NP_872347	Q5JXX7	TMM31_HUMAN	Homo sapiens transmembrane protein 31 (TMEM31), mRNA.	1						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TAGAAGAAATGAGGTTAACAG	0.418000														15			8		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370810	76370810	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76370810G>A	uc001oxq.4	-	2	2070	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	LRRC32_uc001oxr.4_Silent_p.S609S|LRRC32_uc010rsf.2_Silent_p.S595S	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	609	LRRCT.					integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CGTGGCTCAGGGACACCTCCT	0.617000														73			4		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38484883	38484883	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38484883C>T	uc010ive.1	-	17	2917	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_uc003jli.2_Missense_Mutation_p.R862Q	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	862					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.R862*(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCATTCTCGTTTCCGATA	0.363000			T	PLAG1	salivary adenoma									21			8		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257766	57257766	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57257766C>T	uc001cym.4	-	1	1126	c.720G>A	c.(718-720)caG>caA	p.Q240Q	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.Q240Q	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	240										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						CATAGATGGGCTGGCAGGGGC	0.507000														141			4		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885182	63885182	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63885182G>A	uc021qks.1	+	0	1443	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.T481T	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	453	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GCTCCATCACGGAGACCTTGG	0.627000														38			16		0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127460919	127460919	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:127460919G>A	uc001liu.3	-	3	847	c.847C>T	c.(847-849)Cat>Tat	p.H283Y		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	283					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCAATTTCATGGACGGCCACC	0.567000														50			5		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112903485	112903485	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:112903485G>A	uc003kqn.3	+	22	3385	c.3183G>A	c.(3181-3183)ttG>ttA	p.L1061L		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1061							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCACTATATTGGTATTCTGTG	0.378000														55			7		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44064852	44064852	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:44064852C>T	uc003bdy.2	-	15	2028	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	EFCAB6_uc003bdz.2_Missense_Mutation_p.D420N|EFCAB6_uc010gzi.2_Missense_Mutation_p.D420N|EFCAB6_uc010gzj.1_5'Flank|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	572					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)				GGTGGGCCATCAATTCCTATG	0.388000														66			5		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79689945	79689945	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:79689945A>C	uc001sys.3	+	7	1242	c.571A>C	c.(571-573)Aag>Cag	p.K191Q	SYT1_uc001syt.3_Missense_Mutation_p.K191Q|SYT1_uc001syu.3_Missense_Mutation_p.K188Q|SYT1_uc001syv.3_Missense_Mutation_p.K191Q	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	191	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCTGATAAGAAGAAGAAATT	0.418000														30			6		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820742	26820742	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:26820742C>T	uc010wan.2	+	6	1246	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SLC13A2_uc010wal.1_Silent_p.F301F|SLC13A2_uc010wam.2_Silent_p.F300F|SLC13A2_uc002hbh.3_Silent_p.F344F|SLC13A2_uc010wao.2_Silent_p.F301F|SLC13A2_uc002hbi.3_Silent_p.F273F	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	344						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGCTCTGGTTCACCCGGGAGC	0.577000														75			5		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073482	134073482	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:134073482C>T	uc003iha.3	+	0	3013	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	PCDH10_uc003igz.3_Silent_p.F729F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	729					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F729C(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTCATCTTCCTGCTGGCCA	0.592000														65			4		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34517351	34517351	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:34517351G>A	uc003zum.3	+	18	2080	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	629					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CGGCCAAAAAGAACAGGCTCA	0.542000									Kartagener syndrome					23			3		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17588656	17588656	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:17588656C>T	uc002zly.3	+	11	1216	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	362					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCAAATACACCGGTCAGTAT	0.453000														48			11		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36582358	36582358	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36582358C>T	uc002odd.2	+	17	2292	c.2201C>T	c.(2200-2202)tCt>tTt	p.S734F	WDR62_uc002odc.2_Missense_Mutation_p.S734F	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	734					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCACAGTATCTGGAGACAGG	0.493000														49			6		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45316359	45316359	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:45316359C>T	uc003bfn.3	-	2	283	c.132G>A	c.(130-132)acG>acA	p.T44T	PHF21B_uc011aqk.2_Silent_p.T32T|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Silent_p.T44T|PHF21B_uc011aqm.1_Silent_p.T32T	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	44							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGCAGTGATCGTTCCCAAAG	0.637000														14			3		0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619013	37619013	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:37619013C>T	uc002ofl.3	+	4	1335	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTTTATCCGTGGCTCACA	0.428000														97			10		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408827	130408827	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130408827G>A	uc004ewe.4	-	17	3795	c.3512C>T	c.(3511-3513)tCa>tTa	p.S1171L	IGSF1_uc004ewd.3_Missense_Mutation_p.S1166L|IGSF1_uc022cdv.1_Missense_Mutation_p.S1157L|IGSF1_uc004ewf.2_Missense_Mutation_p.S1146L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1166	Ig-like C2-type 12.				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						GGGCCAGGCTGACAGAGAGGG	0.483000														83			22		0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52960377	52960377	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:52960377C>T	uc021zas.1	+	10	1201	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	FBXO9_uc021zao.1_Missense_Mutation_p.H264Y|FBXO9_uc021zap.1_Missense_Mutation_p.H264Y|FBXO9_uc021zaq.1_Missense_Mutation_p.H374Y|FBXO9_uc021zar.1_Missense_Mutation_p.H264Y	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA.	384						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TCAGAGTTTTCATGTGGGGCT	0.378000														50			8		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123514850	123514850	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123514850C>T	uc003vlc.3	+	3	1628	c.990C>T	c.(988-990)gcC>gcT	p.A330A	HYAL4_uc011knz.2_Silent_p.A330A	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	330					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGTGCTGCCTTGGGAGCTG	0.393000														40			9		0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82187231	82187231	+	Silent	SNP	C	T	T	rs150904688	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:82187231C>T	uc021pux.1	+	4	685	c.555C>T	c.(553-555)ttC>ttT	p.F185F	FAM213A_uc001kcc.4_Silent_p.F185F|FAM213A_uc001kcd.4_Silent_p.F174F|FAM213A_uc001kcf.4_Silent_p.F185F|FAM213A_uc001kce.4_Silent_p.F185F|FAM213A_uc021puy.1_Silent_p.F181F	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	185						extracellular region											GGGGAGTTTTCGTGGTGGGAT	0.522000														62			4		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24864927	24864927	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:24864927C>T	uc001upd.2	+	10	3563	c.2985C>T	c.(2983-2985)atC>atT	p.I995I	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.I995I|SPATA13_uc001upg.2_Silent_p.I370I|SPATA13_uc010tcy.1_Silent_p.I316I|SPATA13_uc010tcz.2_Silent_p.I254I|SPATA13_uc010tdb.2_Silent_p.I230I|SPATA13_uc010tda.2_Silent_p.I314I|SPATA13_uc001uph.3_Silent_p.I292I|SPATA13_uc009zzz.2_Silent_p.I95I	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	370					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGATTGACATCGCCATCGACG	0.582000														49			8		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222301810	222301810	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:222301810C>T	uc002vmq.3	-	11	2149	c.2107G>A	c.(2107-2109)Gag>Aag	p.E703K	EPHA4_uc002vmr.2_Missense_Mutation_p.E703K|EPHA4_uc010zlm.1_Missense_Mutation_p.E644K	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	703	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)		GAGCCATTCTCCATGTACTCT	0.373000														64			5		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325439	47325439	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47325439G>A	uc001cqo.1	-	8		c.1129C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGTGGCGTAAGGCATCTGGCT	0.512000														94			22		0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33342786	33342786	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:33342786C>T	uc003zsr.3	+	12	2314	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	NFX1_uc011lnw.2_Missense_Mutation_p.R720C|NFX1_uc003zso.3_Missense_Mutation_p.R720C|NFX1_uc003zsp.2_Missense_Mutation_p.R720C|NFX1_uc010mjr.2_Missense_Mutation_p.R721C|NFX1_uc003zsq.3_Missense_Mutation_p.R720C	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	720					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAGGAAACTCCGTTGTGGCCT	0.393000														15			8		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043374	20043374	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20043374G>A	uc002dgu.1	-	1	907	c.745C>T	c.(745-747)Ctt>Ttt	p.L249F	GPR139_uc010vaw.1_Missense_Mutation_p.L156F	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	249						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGGTGGTAAAGAATCATGATG	0.537000														75			9		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201399743	201399743	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:201399743C>T	uc002uvw.2	+	2	271	c.158C>T	c.(157-159)tCt>tTt	p.S53F	SGOL2_uc002uvv.4_Missense_Mutation_p.S53F|SGOL2_uc010zhd.1_Missense_Mutation_p.S53F|SGOL2_uc010zhe.1_Missense_Mutation_p.S53F	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	53					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCAAAATATCTTTAAAGCAC	0.269000														13			3		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025800	51025800	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:51025800G>A	uc002lfe.2	+	26	4647	c.4031G>A	c.(4030-4032)aGc>aAc	p.S1344N	DCC_uc010dpf.2_Missense_Mutation_p.S977N	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1344					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCACTCCGCAGCTTTGCTAAT	0.522000														97			13		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081315	3081315	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:3081315C>T	uc022aqr.1	-	27	4810	c.4420G>A	c.(4420-4422)Ggg>Agg	p.G1474R	CSMD1_uc011kwj.2_Missense_Mutation_p.G867R|CSMD1_uc003wqe.3_Missense_Mutation_p.G631R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1475	CUB 9.					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)		CATTCCTTCCCAGGAGGATAC	0.473000														73			6		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046487	42046487	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:42046487G>A	uc001cgz.4	-	3	5195	c.3982C>T	c.(3982-3984)Ccg>Tcg	p.P1328S	HIVEP3_uc001cha.4_Missense_Mutation_p.P1328S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1328					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCATAGGACGGCATATTGGTC	0.577000														59			17		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936846	74936846	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:74936846C>T	uc002jti.3	+	12	1894	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	MGAT5B_uc002jth.3_Silent_p.F586F	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	588						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGAGAACTTCATCGGCAAGC	0.552000														60			12		0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32267680	32267680	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:32267680G>A	uc002wzu.4	-	2	593	c.453C>T	c.(451-453)gtC>gtT	p.V151V		NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	151					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGTTCAGGTCGACGACACCGT	0.582000														37			9		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540426	169540426	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:169540426C>T	uc003fgb.3	+	0	717	c.717C>T	c.(715-717)ctC>ctT	p.L239L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	239										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTCGGTGCTCGATTTATCCC	0.577000														53			10		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351338	10351338	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10351338C>T	uc002gmn.3	-	33	4873	c.4762G>A	c.(4762-4764)Gat>Aat	p.D1588N	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1588					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						TTTAGCTGATCGAGTTCTTCA	0.413000														89			18		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970459	123970459	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123970459G>A	uc001lfv.3	+	8	6879	c.6519G>A	c.(6517-6519)acG>acA	p.T2173T	TACC2_uc001lfw.3_Silent_p.T319T|TACC2_uc009xzx.3_Silent_p.T2128T|TACC2_uc010qtv.2_Silent_p.T2177T|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Silent_p.T251T|TACC2_uc001lga.3_Silent_p.T251T|TACC2_uc009xzy.3_Silent_p.T251T|TACC2_uc001lgb.3_Silent_p.T208T|TACC2_uc010qtw.1_Silent_p.T268T	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2173						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)				CATCTGAGACGAAAACGGAAT	0.592000														85			12		0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39742750	39742750	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:39742750G>A	uc002xjl.3	+	14	1839	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	531					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding	p.G531W(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ACTTCCTCGGGAAGGACTCCA	0.463000			T	NUP98	AML*									76			12		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	A	A	rs149076914		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151935417G>A	uc022chl.1	-	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_uc004fgp.3_Silent_p.F250F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000														110			29		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132036382	132036382	+	Nonsense_Mutation	SNP	C	T	T	rs149109145		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:132036382C>T	uc010htp.2	+	0	172	c.82C>T	c.(82-84)Cga>Tga	p.R28*	ACPP_uc003eon.3_Nonsense_Mutation_p.R28*|ACPP_uc003eop.4_Nonsense_Mutation_p.R28*	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	28						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCTAGACCGAAGTGTACT	0.463000														26			6		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105377928	105377928	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:105377928G>A	uc003dwc.3	-	18	3157	c.2835C>T	c.(2833-2835)gcC>gcT	p.A945A	CBLB_uc003dwa.3_Silent_p.A160A|CBLB_uc011bhi.2_Silent_p.A923A	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	945	UBA.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCTCTTCAAAGGCATAACCCT	0.502000			Mis S		AML									75			21		0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97327486	97327486	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:97327486G>A	uc002bue.3	+	1	400	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	65										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GCCTGCAAAGGAAGGTAAGTA	0.577000														41			6		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583484	7583484	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7583484G>A	uc003mxp.1	+	23	6268	c.5989G>A	c.(5989-5991)Ggg>Agg	p.G1997R	DSP_uc003mxq.1_Missense_Mutation_p.G1398R|DSP_uc021yle.1_Missense_Mutation_p.G1554R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1997	Globular 2.				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)		ACTATTGAAGGGGAAGAAGTC	0.478000														58			6		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22985965	22985965	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:22985965C>T	uc001bgd.3	+	1	148	c.16C>T	c.(16-18)Cca>Tca	p.P6S		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	6					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)	GATGAAGATCCCATGGGGCAG	0.562000														73			4		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932753	61932753	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61932753C>T	uc001jky.3	-	19	2625	c.2287G>A	c.(2287-2289)Ggg>Agg	p.G763R	ANK3_uc001jkx.3_5'Flank|ANK3_uc010qih.2_Missense_Mutation_p.G746R|ANK3_uc001jkz.4_Missense_Mutation_p.G757R|ANK3_uc001jlb.1_Missense_Mutation_p.G292R|ANK3_uc001jlc.1_Missense_Mutation_p.G424R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	763					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						GGCGTATACCCATTCTGTAGA	0.398000														35			3		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4389579	4389579	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4389579C>T	uc002fxt.3	+	9	1280	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	SPNS3_uc002fxu.3_Silent_p.G285G|AX748345_uc002fxw.1_Non-coding_Transcript	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	412					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCACGGTGGGCCACATCCTGG	0.647000														34			6		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146522	5146522	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:5146522G>A	uc003jdl.3	+	2	593	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R152Q|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R152Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTCTTTGCGATCACACAGA	0.537000														111			14		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457622	41457622	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:41457622G>A	uc002yyq.1	-	22	4491	c.4039C>T	c.(4039-4041)Cgc>Tgc	p.R1347C	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.	1347	Ig-like C2-type 10.				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	p.R1347C(2)		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)				TTCACCGTGCGAATAATGAAG	0.438000														47			16		0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121838367	121838367	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121838367G>A	uc003eet.3	+	6	1104	c.976G>A	c.(976-978)Gat>Aat	p.D326N	CD86_uc011bjo.2_Missense_Mutation_p.D244N|CD86_uc011bjp.2_Missense_Mutation_p.D214N|CD86_uc003eeu.3_Missense_Mutation_p.D320N|CD86_uc021xcz.1_Missense_Mutation_p.D272N	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	326					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding	p.D326N(2)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CGACAAAAGTGATACATGTTT	0.343000														36			11		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919457	48919457	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48919457C>T	uc010slu.2	+	0	43	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GTTCCTCCTCCTTGGGCTGTC	0.498000														156			16		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179671	103179671	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103179671G>A	uc022ajr.1	-	44	7194	c.7034C>T	c.(7033-7035)cCc>cTc	p.P2345L	RELN_uc022ajq.1_Missense_Mutation_p.P2345L|RELN_uc010liz.3_Missense_Mutation_p.P2345L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2345					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)		GCCACACACGGGCATCTTGGT	0.493000														41			8		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388662	46388662	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46388662G>A	uc002pds.1	-	0	715	c.371C>T	c.(370-372)cCc>cTc	p.P124L		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGCGGGCGAGGGCAGGGGGAG	0.751000														30			3		0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39516062	39516062	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39516062G>A	uc002okh.3	-	5	923	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	281					protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.R281H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGGACAGACGGACTCGCACG	0.587000														99			7		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918682	21918682	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21918682C>T	uc001rff.3	-	2	1588	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTTTGATTTCCTTCTGGAGT	0.423000														70			11		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272885	28272885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:28272885G>A	uc009xky.3	-	5	804	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Nonsense_Mutation_p.R236*|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	236							binding	p.R236*(2)		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						GGTGGGGCTCGACATCCATTT	0.423000														37			7		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035977	37035977	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:37035977T>G	uc002rpl.3	+	14	2054	c.1752T>G	c.(1750-1752)agT>agG	p.S584R	VIT_uc002rpm.3_Missense_Mutation_p.S569R|VIT_uc010ezv.3_Missense_Mutation_p.S547R|VIT_uc010ezw.3_Missense_Mutation_p.S548R	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	569	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCTACTGGAGTGGTGGCACCA	0.567000														39			9		0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146067419	146067419	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:146067419G>A	uc003ika.4	-	14	1365	c.1227_splice	c.e14+1	p.S409_splice		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	473							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCATACATACGGAAAGGGCTG	0.373000														33			4		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229730571	229730571	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:229730571G>A	uc001htq.3	-	4	1409	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W		NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	415					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGGTACGTCCGATCAAATGAC	0.547000														86			18		0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61021871	61021871	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:61021871G>A	uc002sai.3	+	19	2265	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	PAPOLG_uc002saj.3_Silent_p.K361K|PAPOLG_uc002sak.3_Silent_p.K207K|PAPOLG_uc010fch.3_Intron	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	672					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CAACATTTAAGGACCCCCGCA	0.299000														34			4		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537629	55537629	+	Missense_Mutation	SNP	G	A	A	rs141279458	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55537629G>A	uc003xsd.1	+	3	1335	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	396					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)			CCTATGGAGCGAAGCAGTAAT	0.433000														43			6		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134911575	134911575	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:134911575C>T	uc003eqt.3	+	10	2415	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	EPHB1_uc003equ.3_Silent_p.I241I	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	680	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCCTAACATCATTCGCCTGG	0.537000														37			6		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157031535	157031535	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:157031535G>A	uc003fbj.2	-	10	2304	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	VEPH1_uc003fbk.2_Missense_Mutation_p.P629S|VEPH1_uc010hvu.2_Intron	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	629						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGGGTTCAGGAAACAGGCTC	0.453000														60			4		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657103	81657103	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81657103C>T	uc001szo.2	-	30	3780	c.3619G>A	c.(3619-3621)Gga>Aga	p.G1207R	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G1106R|PPFIA2_uc021rbh.1_Missense_Mutation_p.G1102R|PPFIA2_uc021rbi.1_Missense_Mutation_p.G1201R|PPFIA2_uc021rbj.1_Missense_Mutation_p.G1186R|PPFIA2_uc021rbk.1_Missense_Mutation_p.G1192R|PPFIA2_uc021rbl.1_Missense_Mutation_p.G1207R|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G743R|PPFIA2_uc021rbf.1_Missense_Mutation_p.G393R	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.	1107										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						ATGCTGATTCCATGTACTTCA	0.443000														25			3		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100211	184100211	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:184100211C>T	uc003fov.3	+	6	980	c.734C>T	c.(733-735)tCt>tTt	p.S245F	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.S245F|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	245	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCGGTTGTCTCTGCGGCTC	0.627000														235			44		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118657993	118657993	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:118657993C>T	uc001ehk.2	-	3	455	c.387G>A	c.(385-387)ttG>ttA	p.L129L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	129	Lys-rich.					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)		GTTGAAATTTCAAGAGTTTCC	0.378000														60			7		0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107832711	107832711	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:107832711A>G	uc001pjt.3	+	1	285	c.267A>G	c.(265-267)ggA>ggG	p.G89G		NM_017516	NP_059986	Q14964	RB39A_HUMAN	Homo sapiens RAB39A, member RAS oncogene family (RAB39A), mRNA.	89					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										CAGTTGGTGGATTTTTAGTAT	0.348000														29			5		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174370	112174370	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:112174370T>C	uc003kpz.4	+	16	3272	c.3079T>C	c.(3079-3081)Tat>Cat	p.Y1027H	APC_uc011cvt.2_Missense_Mutation_p.Y1009H|APC_uc003kpy.4_Missense_Mutation_p.Y1027H|APC_uc010jbz.3_Missense_Mutation_p.Y744H|APC_uc010jca.3_Missense_Mutation_p.Y327H	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1027	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		Y -> C (in colorectal tumor).		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Y1027fs*2(2)|p.Y1027C(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACCAATAAATTATAGTCTTAA	0.368000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				55			9		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884930	53884930	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53884930C>T	uc010eqn.3	+	3	1183	c.990C>T	c.(988-990)ttC>ttT	p.F330F	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						CTTTCAGTTTCAAATCAAACC	0.388000														32			8		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314545	176314546	+	Nonsense_Mutation	DNP	GT	AC	AC			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:176314545_176314546GT>AC	uc003mfa.3	-	10	1598_1599	c.1506_1507AC>GT	c.(1504-1509)gcacag>gcGTag	p.Q503*	HK3_uc003mez.3_Nonsense_Mutation_p.Q59*	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	503	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.Q501_A502>HS(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCGCATCTGTGCCTGAACCG	0.673000														39			11		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18732255	18732255	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:18732255C>T	uc009yht.2	-	15	2709	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	838	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTTCTTCCTTCGTTCTACAAT	0.567000														63			12		0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863177	56863177	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56863177A>G	uc001sli.4	+	1	515	c.440A>G	c.(439-441)cAg>cGg	p.Q147R	SPRYD4_uc010sqo.1_Missense_Mutation_p.Q135R	NM_207344	NP_997227	Q8WW59	SPRY4_HUMAN	Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA.	147	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						GGTATTGGGCAGCCAGAGAAG	0.552000														76			6		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702598	27702598	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:27702598G>A	uc001itu.2	-	0	700	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	194					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						AGAAGCGGTAGGAGTCGTTGG	0.612000														137			28		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476122	17476122	+	Silent	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:17476122T>G	uc002ngk.1	-	2	1192	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	384						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTCCAGGGCTGAGTTTCTGA	0.602000														89			15		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214825	161214825	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:161214825C>T	uc011bpb.2	+	0	230	c.230C>T	c.(229-231)tCt>tTt	p.S77F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	77						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCTTGGATTCTGTCTTTGGC	0.473000														133			25		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457115	159457115	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:159457115C>T	uc003qrz.3	-	9	2272	c.1940G>A	c.(1939-1941)aGa>aAa	p.R647K	TAGAP_uc011eft.2_Missense_Mutation_p.R584K|TAGAP_uc003qsa.3_Missense_Mutation_p.R469K	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	647					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCCCCTGTGTCTTGAGTCCTC	0.622000														91			5		0	0	1	0	0
EMX1	2016	broad.mit.edu	37	2	73160976	73160976	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:73160976G>A	uc002sin.1	+	2	1144	c.766G>A	c.(766-768)Ggg>Agg	p.G256R		NM_004097	NP_004088	Q04741	EMX1_HUMAN	Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA.	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						GGAGGAGGAAGGGCCTGAGTC	0.582000														33			3		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150933	128150933	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128150933C>T	uc011ebt.2	-	2	546	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	THEMIS_uc010kfa.3_Missense_Mutation_p.G36S|THEMIS_uc021zfa.1_Missense_Mutation_p.G133S|THEMIS_uc010kfb.3_Missense_Mutation_p.G98S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	133	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATTTGCTCACCCTGCTTTATG	0.398000														78			13		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762252	130762252	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:130762252G>A	uc003qcb.3	+	1	3063	c.685G>A	c.(685-687)Gat>Aat	p.D229N	TMEM200A_uc003qca.3_Missense_Mutation_p.D229N|TMEM200A_uc010kfh.3_Missense_Mutation_p.D229N|TMEM200A_uc010kfi.3_Missense_Mutation_p.D229N|TMEM200A_uc021zfg.1_Missense_Mutation_p.D229N	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	229						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CGTGGAGGAGGATGAACTTAT	0.502000														39			6		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698487	96698487	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:96698487C>T	uc001kka.4	+	0	73	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CYP2C9_uc009xut.3_Silent_p.L16L|CYP2C9_uc001kjz.3_Silent_p.L16L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	16					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GTTTGCTTCTCCTTTCACTCT	0.473000														189			16		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371685	31371685	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:31371685C>T	uc002ebt.3	+	7	829	c.762C>T	c.(760-762)ctC>ctT	p.L254L	ITGAX_uc002ebu.1_Silent_p.L254L|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	254	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCAAAATTCTCATTGTCATCA	0.517000														105			17		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466719	56466719	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56466719C>T	uc002qmh.3	+	2	1366	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	NLRP8_uc010etg.3_Missense_Mutation_p.S432F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	432	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGGTATATTTCTAGCTTGTTT	0.498000														78			9		0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96139197	96139197	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:96139197A>T	uc003kmm.3	-	1	780	c.433T>A	c.(433-435)Tac>Aac	p.Y145N	ERAP1_uc003kml.3_Missense_Mutation_p.Y145N|ERAP1_uc010jbm.2_Intron|ERAP1_uc003kmn.3_Missense_Mutation_p.Y145N	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	145					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		ACAACTGTGTACGGGAGCCCG	0.527000														60			13		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055379	72055379	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:72055379G>A	uc001xms.3	+	1	1151	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	SIPA1L1_uc001xmt.3_Missense_Mutation_p.G264R|SIPA1L1_uc001xmu.3_Missense_Mutation_p.G264R|SIPA1L1_uc001xmv.3_Missense_Mutation_p.G264R	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	264					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)		TGTAATAGACGGGCCTATCTC	0.443000														53			10		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537625	55537625	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55537625G>A	uc003xsd.1	+	3	1331	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	395					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)			GTCACCTATGGAGCGAAGCAG	0.433000														39			6		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387948	157387948	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:157387948G>A	uc003wno.3	-	16	2599	c.2478C>T	c.(2476-2478)acC>acT	p.T826T	PTPRN2_uc003wnp.3_Silent_p.T809T|PTPRN2_uc003wnq.3_Silent_p.T797T|PTPRN2_uc003wnr.3_Silent_p.T788T|PTPRN2_uc011kwa.2_Silent_p.T849T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	826	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGTCAGCCACGGTGGCGGGCA	0.498000														49			8		0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38709597	38709597	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:38709597C>T	uc021uty.1	-	3	508	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DPF1_uc002ohm.3_Missense_Mutation_p.E161K|DPF1_uc002ohl.3_Missense_Mutation_p.E161K|DPF1_uc002ohn.3_Missense_Mutation_p.E79K|DPF1_uc010xtw.1_Missense_Mutation_p.E135K	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	161					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTCTCCTCCTCCTTCAGCTCA	0.647000														130			10		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517941	79517941	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79517941G>A	uc002kaq.3	-	2	652	c.579C>T	c.(577-579)ttC>ttT	p.F193F	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Silent_p.F42F	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	193					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)			GCACTGGAAGGAAGTGGGGGG	0.701000														18			5		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508731	123508731	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123508731C>T	uc003vlc.3	+	2	1042	c.404C>T	c.(403-405)gCt>gTt	p.A135V	HYAL4_uc011knz.2_Missense_Mutation_p.A135V	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	135					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TACATCCCTGCTGAAGATTTC	0.423000														89			19		0	0	1	0	0
C4orf51	646603	broad.mit.edu	37	4	146601490	146601490	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:146601490G>A	uc003ikk.3	+	0	135	c.135G>A	c.(133-135)gtG>gtA	p.V45V		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	Homo sapiens chromosome 4 open reading frame 51 (C4orf51), mRNA.	45										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ATTCTTCCGTGACAACATACA	0.463000														56			14		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501787	28501787	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:28501787C>T	uc003nll.2	+	4	511	c.509C>T	c.(508-510)tCc>tTc	p.S170F	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	170					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AAATCTATATCCTGGGACCCT	0.493000														172			14		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770889	53770889	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53770889C>T	uc010ydu.2	-	0	30	c.30G>A	c.(28-30)atG>atA	p.M10I		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	10					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTGATAAGATCATTCCCACTG	0.517000										HNSCC(26;0.072)				74			12		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33807119	33807119	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:33807119C>T	uc002hjn.3	-	2	911	c.197G>A	c.(196-198)gGa>gAa	p.G66E	SLFN12L_uc021tuy.1_Missense_Mutation_p.G37E	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	69						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGTGACTCTTCCCACATTTAG	0.398000														20			3		0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2415035	2415035	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2415035C>T	uc003slx.3	+	13	1984	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	EIF3B_uc003sly.3_Missense_Mutation_p.A634V|EIF3B_uc003sma.3_Missense_Mutation_p.A362V|EIF3B_uc003smb.3_5'Flank	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	634					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	p.G633S(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATGAACGGTGCCTTAGCGTTT	0.582000														107			17		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999240	104999240	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:104999240C>T	uc004elz.1	+	9	2018	c.1262C>T	c.(1261-1263)cCt>cTt	p.P421L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	421	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTGACAATCCTGAAGAAGAG	0.388000														62			16		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38652966	38652966	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:38652966C>T	uc002ohk.3	+	13	4244	c.3735C>T	c.(3733-3735)tcC>tcT	p.S1245S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1245					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCACCCGTCCAGGCAGGATG	0.627000														28			4		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:71275418C>T	uc003hfi.3	+	2	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000														70			14		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26179268	26179268	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:26179268G>A	uc002rgu.2	-	1	2248	c.1591C>T	c.(1591-1593)Cac>Tac	p.H531Y	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.H531Y	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	531					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTTGGTGTGATCCATGATG	0.587000														35			6		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109050778	109050778	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:109050778C>T	uc003dxq.4	-	2	334	c.279G>A	c.(277-279)ctG>ctA	p.L93L	DPPA4_uc011bho.2_Silent_p.L93L|DPPA4_uc011bhp.1_Silent_p.L93L	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	93						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCCGGTGAATCAGATTAACAG	0.547000														122			12		0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579407	49579407	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:49579407G>A	uc009zlf.3	-	3	1014	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	TUBA1A_uc001rtp.3_Silent_p.L248L	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	248					'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						TCAACATTCAGGGCTCCATCA	0.488000														82			12		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940630	21940630	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21940630C>T	uc003svc.3	+	82	13361	c.13330C>T	c.(13330-13332)Cgc>Tgc	p.R4444C	CDCA7L_uc003sve.4_3'UTR|CDCA7L_uc010kuk.3_3'UTR|CDCA7L_uc010kul.3_3'UTR|CDCA7L_uc003svf.4_3'UTR	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4444					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						CATAGGCGCCCGCTGGGACAC	0.493000									Kartagener syndrome					165			26		0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48091493	48091493	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48091493G>A	uc001rpr.3	-	3	420	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	RPAP3_uc010slk.2_5'UTR|RPAP3_uc001rps.3_Missense_Mutation_p.L102F	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	102							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGCTCATCAAGGATACGGTCC	0.353000														65			4		0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858457	105858457	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:105858457G>A	uc002tco.1	+	0	258	c.142G>A	c.(142-144)Ggg>Agg	p.G48R		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	48						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GACCGTGGTGGGGTTCCTGGG	0.622000														107			9		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356564	99356564	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:99356564C>T	uc001vno.3	-	16	1472	c.1395G>A	c.(1393-1395)tgG>tgA	p.W465*		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	465					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GATTGGGGGCCCACACTAGAA	0.458000														82			23		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39623270	39623270	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39623270A>G	uc002hwr.3	-	0	369	c.308T>C	c.(307-309)cTt>cCt	p.L103P		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	103	Coil 1A.|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)				GCGGTCGTTAAGGAACTGCAT	0.627000														121			13		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351592	43351592	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:43351592C>T	uc003tid.1	+	3	863	c.258C>T	c.(256-258)tcC>tcT	p.S86S	HECW1_uc011kbi.1_Silent_p.S86S|HECW1_uc003tie.1_Silent_p.S118S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	86					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCAGCAGCTCCTACTATTCCA	0.607000														67			4		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145504	27145504	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:27145504G>A	uc003xfl.1	-	5	1127	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	349	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GAGAAGACACGGGAGCCCAGC	0.687000														53			8		0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127894610	127894610	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:127894610G>A	uc003vml.2	+	2	355	c.298G>A	c.(298-300)Gac>Aac	p.D100N	LEP_uc003vmm.2_Missense_Mutation_p.D99N	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	100					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						AATATCCAACGACCTGGAGAA	0.567000														91			13		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91661873	91661873	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:91661873C>T	uc004aqf.2	-	7	1306	c.999G>A	c.(997-999)gaG>gaA	p.E333E		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	333	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGCCATCTCCCTCCTCTTCCG	0.488000														80			9		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119941127	119941127	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:119941127C>T	uc003yon.4	-	2	765	c.442G>A	c.(442-444)Ggg>Agg	p.G148R	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	148					apoptosis|skeletal system development		cytokine activity|receptor activity	p.D147Y(1)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGAAGAACCCATCTGGACAT	0.428000														59			10		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002947	69002947	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:69002947G>A	uc003xxv.1	+	19	2274	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	PREX2_uc003xxu.1_Silent_p.T749T|PREX2_uc011lez.1_Silent_p.T684T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	749	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.T749T(3)|p.K750*(2)		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						GGCGGCCAACGAAGGTAAGTG	0.473000														38			6		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71946982	71946982	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:71946982C>T	uc001osf.3	+	24	2978	c.2831C>T	c.(2830-2832)cCc>cTc	p.P944L	INPPL1_uc001osg.3_Missense_Mutation_p.P702L	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	944	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACGGGGAGGCCCCCAGCCCCA	0.672000														40			7		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116759656	116759656	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:116759656C>G	uc003vin.3	+	2	490	c.276C>G	c.(274-276)ttC>ttG	p.F92L	ST7_uc011knl.2_Missense_Mutation_p.F92L|ST7_uc003vio.3_Missense_Mutation_p.F92L|ST7_uc003viq.3_Missense_Mutation_p.F46L|ST7_uc011knm.2_Missense_Mutation_p.F49L|ST7_uc003vir.3_Missense_Mutation_p.F40L|ST7-AS2_uc003viu.3_Intron|ST7-AS2_uc003viw.3_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	92						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GAACTTCATTCATTGAACAAG	0.413000														100			6		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793504	65793504	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:65793504T>C	uc001ogt.3	-	0	485	c.347A>G	c.(346-348)cAt>cGt	p.H116R		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	116	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GAGCTCATCATGGTAGTCCTC	0.597000														87			7		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683173	100683173	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100683173G>A	uc003uxp.1	+	2	8529	c.8476G>A	c.(8476-8478)Gag>Aag	p.E2826K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2826	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTGGCAC	0.488000														407			25		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344791	20344791	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20344791G>A	uc001vwh.1	+	0	365	c.365G>A	c.(364-366)aGg>aAg	p.R122K		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTTGATAGGTATATTGCA	0.453000														279			8		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206165277	206165277	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:206165277C>T	uc002var.2	+	16	2416	c.2209C>T	c.(2209-2211)Cca>Tca	p.P737S	PARD3B_uc010fub.2_Missense_Mutation_p.P737S|PARD3B_uc002vao.2_Missense_Mutation_p.P737S|PARD3B_uc002vap.2_Missense_Mutation_p.P675S|PARD3B_uc002vaq.2_Intron	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	737					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGATTTTGGTCCAACTCTGGG	0.488000														101			11		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830989	130830989	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130830989C>T	uc001uik.3	+	4	662	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	PIWIL1_uc001uij.2_Nonsense_Mutation_p.Q131*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	131					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGCCTTATATCAGTATCACAT	0.418000														39			5		0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041960	207041960	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:207041960C>T	uc021vvl.1	-	0	12	c.12G>A	c.(10-12)ttG>ttA	p.L4L	GPR1_uc002vbl.4_Silent_p.L4L|GPR1_uc010fue.3_Silent_p.L4L|GPR1_uc010fuf.3_Silent_p.L4L	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	4						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ATGTTTCCTCCAAATCTTCCA	0.323000														47			6		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510298	26510298	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:26510298C>T	uc001bln.4	+	8	911	c.853C>T	c.(853-855)Ccg>Tcg	p.P285S	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.P278S|CNKSR1_uc009vsd.3_Missense_Mutation_p.P20S|CNKSR1_uc009vse.3_Missense_Mutation_p.P20S	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	285	PDZ.|Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			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)		GAAGAAGATCCCGATACCGGA	0.657000														76			6		0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72521021	72521021	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:72521021C>T	uc004ahl.3	+	5	724	c.659C>T	c.(658-660)cCc>cTc	p.P220L	C9orf135_uc011lrw.2_3'UTR|C9orf135_uc010moq.3_Missense_Mutation_p.P112L|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_3'UTR	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	220						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AAACTCTATCCCTTGACTAGT	0.353000														45			12		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115258669	115258669	+	Splice_Site	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115258669A>G	uc009wgu.3	-	2	365	c.111_splice	c.e2+1	p.E37_splice		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	37					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGGGCCTCACCTCTATGGT	0.463000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				49			12		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258596	16258596	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16258596C>T	uc001axk.1	+	10	6065	c.5861C>T	c.(5860-5862)cCa>cTa	p.P1954L	SPEN_uc010obp.1_Missense_Mutation_p.P1913L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1954					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAAGGCCTCCAAAGACACGC	0.607000														69			12		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128851780	128851780	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:128851780G>A	uc009zcp.3	-	14	1536	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ARHGAP32_uc009zcq.2_Silent_p.S472S|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Silent_p.S163S	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	512	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TATTTGTGATGGAACAATAGT	0.338000														57			5		0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984922	117984922	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117984922C>T	uc001ehd.1	+	5	1646	c.925C>T	c.(925-927)Cct>Tct	p.P309S	MAN1A2_uc009whg.1_Missense_Mutation_p.P99S	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	309					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TACTGGGATTCCTTGGGCAAT	0.333000														86			6		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460096	107460096	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:107460096G>A	uc002tdq.3	-	1	457	c.338C>T	c.(337-339)tCa>tTa	p.S113L	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S113L|ST6GAL2_uc002tds.3_Missense_Mutation_p.S113L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	113					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						CACCTGGGATGAAAAAAACTC	0.562000														111			11		0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50031254	50031254	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:50031254C>T	uc001rur.1	+	16	1558	c.1495_splice	c.e16-1	p.T499_splice	PRPF40B_uc001rup.1_Splice_Site_p.T521_splice|PRPF40B_uc001ruq.1_Splice_Site_p.T493_splice|PRPF40B_uc001rus.1_Splice_Site_p.T442_splice	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	499	FF 2.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCTGCTCAGACCTTCCTGGAC	0.572000											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			6		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421457	105421457	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:105421457G>A	uc010axc.1	-	5	608	c.488C>T	c.(487-489)aCc>aTc	p.T163I	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.T63I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	163	PDZ.					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)			AAAGAACACGGTTGTACTGAG	0.507000														49			9		0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70960074	70960074	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:70960074T>C	uc002asr.3	-	15	3053	c.2949A>G	c.(2947-2949)gtA>gtG	p.V983V	UACA_uc010uke.2_Silent_p.V874V|UACA_uc002asq.3_Silent_p.V970V|UACA_uc010bin.1_Silent_p.V958V	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	983						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGGCGTATTTTACCTTAATGC	0.408000														64			13		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64606080	64606080	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:64606080G>A	uc001dbj.2	+	5	1298	c.899G>A	c.(898-900)gGa>gAa	p.G300E	ROR1_uc001dbi.4_Missense_Mutation_p.G300E|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	300					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATCCGGATTGGAATTCCCATG	0.493000														53			21		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164757744	164757744	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:164757744C>T	uc003fei.3	-	18	2238	c.2175G>A	c.(2173-2175)acG>acA	p.T725T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	725	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)	TCCAGCTGTTCGTATCCTCAT	0.333000										HNSCC(35;0.089)				98			9		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834712	61834712	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61834712G>A	uc001jky.3	-	36	6265	c.5927C>T	c.(5926-5928)tCa>tTa	p.S1976L	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.	1976					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						ACTCTTTGGTGATTTGGGTGA	0.398000														36			7		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168320	110168320	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:110168320C>T	uc009wfh.1	+	3	963	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.R60C|AMPD2_uc001dyc.1_Missense_Mutation_p.R141C|AMPD2_uc010ovr.1_Missense_Mutation_p.R66C|AMPD2_uc010ovs.1_Missense_Mutation_p.R23C|AMPD2_uc001dyd.1_Missense_Mutation_p.R22C	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	141					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGCGAGCTCCGTAGTGCCCC	0.652000														65			10		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19548854	19548854	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19548854C>T	uc002dgl.4	+	3	2110	c.1863C>T	c.(1861-1863)taC>taT	p.Y621Y	CCP110_uc002dgk.4_Silent_p.Y621Y	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	621					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAAAAAGATACCCTAAGGGAT	0.353000														67			4		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19442124	19442124	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:19442124G>A	uc001bbi.3	-	73	10835	c.10831C>T	c.(10831-10833)Cgc>Tgc	p.R3611C	UBR4_uc001bbj.1_Missense_Mutation_p.R26C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3611					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3611C(2)|p.R3611L(1)		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)		TTGTGCCAGCGAGCTGGCCTA	0.483000														129			32		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138698587	138698587	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:138698587C>T	uc011mwn.1	-	11	1486	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	MCF2_uc004fav.3_Missense_Mutation_p.E349K|MCF2_uc004fau.3_Missense_Mutation_p.E349K|MCF2_uc010nsh.2_Missense_Mutation_p.E349K|MCF2_uc011mwm.2_Missense_Mutation_p.E310K|MCF2_uc011mwl.2_Missense_Mutation_p.E310K|MCF2_uc011mwo.1_Missense_Mutation_p.E409K|MCF2_uc004faw.2_Missense_Mutation_p.E409K	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	349					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTATCTATTTCCTGATTAGCT	0.323000														37			4		0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24543556	24543556	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:24543556A>G	uc003gqx.3	-	7	1593	c.1425T>C	c.(1423-1425)cgT>cgC	p.R475R	DHX15_uc003gqw.3_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	475	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAGGTCTGGTACGTCCAGCTC	0.428000														45			8		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060213	74060213	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:74060213C>T	uc002jqk.1	-	3	440	c.405G>A	c.(403-405)tgG>tgA	p.W135*	SRP68_uc010wsu.1_Nonsense_Mutation_p.W34*|SRP68_uc002jql.1_Nonsense_Mutation_p.W97*	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	135					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGGCGTAGCTCCAGGCTCTTT	0.493000														135			9		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47299717	47299718	+	Missense_Mutation	DNP	TG	GT	GT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:47299717_47299718TG>GT	uc001ner.1	+	5	1288_1289	c.1097_1098TG>GT	c.(1096-1098)ctg>cGT	p.L366R	MADD_uc001neq.2_Missense_Mutation_p.L366R|MADD_uc001nev.1_Missense_Mutation_p.L366R|MADD_uc001nes.1_Missense_Mutation_p.L366R|MADD_uc001net.1_Missense_Mutation_p.L366R|MADD_uc009yln.1_Missense_Mutation_p.L366R|MADD_uc001neu.1_Missense_Mutation_p.L366R|MADD_uc001nez.2_Missense_Mutation_p.L366R|MADD_uc001new.2_Missense_Mutation_p.L366R|MADD_uc001nex.2_Missense_Mutation_p.L366R	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	366	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTTCCACAGCTGCTGTTGGCTC	0.436000														156			19		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919343	130919343	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130919343G>A	uc001uil.2	-	10	2354	c.2138C>T	c.(2137-2139)cCa>cTa	p.P713L	RIMBP2_uc001uim.3_Missense_Mutation_p.P621L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	713						cell junction|synapse		p.S712Y(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTTGAAGTCTGGAGAGTCATA	0.592000														112			15		0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72866468	72866468	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:72866468C>T	uc003kcw.1	+	5	828	c.605C>T	c.(604-606)tCc>tTc	p.S202F	UTP15_uc011cso.1_Missense_Mutation_p.S183F|UTP15_uc011csp.1_Missense_Mutation_p.S12F|UTP15_uc010ize.1_Missense_Mutation_p.S202F	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	202					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGTGTTCTCTCCGTTGAGCAT	0.403000														72			6		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617425	77617425	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77617425C>T	uc003yau.2	+	1	1489	c.1102C>T	c.(1102-1104)Cat>Tat	p.H368Y	ZFHX4_uc003yat.1_Missense_Mutation_p.H368Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.H368Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	368						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)			GAGCGCTTTTCATGTTGAAAA	0.483000										HNSCC(33;0.089)				50			7		0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7912983	7912983	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7912983C>T	uc001aos.3	-	2	200	c.126_splice	c.e2-1	p.L42_splice	UTS2_uc001aoq.3_Silent_p.R27R|UTS2_uc001aor.3_Silent_p.R27R	NM_021995	NP_068835	O95399	UTS2_HUMAN	Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA.	27					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGGATATTTCCCTGGAGTCAA	0.378000														115			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141128412	141128412	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141128412C>T	uc002tvj.1	-	71	11848	c.10876_splice	c.e71-1	p.M3626_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3626	LDL-receptor class A 28.				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)		CACAGTCCATCTGTTCAAATA	0.363000										TSP Lung(27;0.18)				60			16		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729305	37729305	+	Silent	SNP	G	A	A	rs146665678	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:37729305G>A	uc003xkm.2	-	3	3071	c.3015C>T	c.(3013-3015)gtC>gtT	p.V1005V	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Silent_p.V334V|RAB11FIP1_uc003xko.1_Silent_p.V334V|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.	1005					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)			CAGGACAGGGGACTACCAAGC	0.552000														62			9		0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459447	148459447	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:148459447C>T	uc003ewg.3	+	3	1071	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	AGTR1_uc003ewh.3_Silent_p.L209L|AGTR1_uc003ewi.3_Silent_p.L209L|AGTR1_uc003ewj.3_Silent_p.L209L|AGTR1_uc003ewk.3_Silent_p.L209L|AGTR1_uc021xfj.1_Silent_p.L209L	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	209					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GTTTCCTTTTCTGATCATTCT	0.358000														31			9		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944314	55944314	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55944314C>T	uc010rjb.2	+	0	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTGCTATTCATCTGCAATT	0.443000														117			15		0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7743114	7743114	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:7743114C>T	uc002mhh.1	+	2	334	c.309C>T	c.(307-309)ttC>ttT	p.F103F	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	Homo sapiens chromosome 19 open reading frame 59 (C19orf59), mRNA.	103						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						TGTCAGCCTTCATCATGGTGA	0.567000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			25		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73553298	73553298	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:73553298C>T	uc001jrx.4	+	45	6994	c.6604C>T	c.(6604-6606)Cca>Tca	p.P2202S	CDH23_uc001jsg.4_5'Flank|CDH23_uc001jsh.4_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2205	Cadherin 21.		D -> N (in DFNB12).	EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	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						CGACCTCAACCCAAAGCTAGA	0.567000														30			8		0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239079612	239079612	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:239079612G>A	uc002vxv.3	-	10	1140	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	ILKAP_uc010zns.2_Missense_Mutation_p.A269V|ILKAP_uc002vxw.3_Missense_Mutation_p.A217V|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.A219V	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	337	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GAAGTTCACGGCTTCTTCTGG	0.463000														163			13		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447657	82447657	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82447657G>A	uc001dit.4	+	17	3409	c.3228G>A	c.(3226-3228)aaG>aaA	p.K1076K	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.K1076K|LPHN2_uc001div.3_Silent_p.K1076K|LPHN2_uc009wcd.3_Silent_p.K1076K|LPHN2_uc001diw.3_Silent_p.K660K|LPHN2_uc009wce.1_Silent_p.K177K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1089					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)		CTCTCCAAAAGAAAGTAAGTA	0.313000														48			4		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110170075	110170075	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:110170075C>T	uc009wfh.1	+	8	1589	c.1047C>T	c.(1045-1047)taC>taT	p.Y349Y	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.Y268Y|AMPD2_uc001dyc.1_Silent_p.Y349Y|AMPD2_uc010ovr.1_Silent_p.Y274Y|AMPD2_uc010ovs.1_Silent_p.Y231Y|AMPD2_uc001dyd.1_Silent_p.Y230Y|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	349					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCTGCCATACCCTGACCTGC	0.597000														95			24		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969511	140969511	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140969511C>T	uc011mwp.2	+	3	838	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	280	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATTCTTATTCTGAGTGTGAT	0.493000														113			38		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029451	219029451	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219029451C>G	uc021vwq.1	-	0	484	c.484G>C	c.(484-486)Gga>Cga	p.G162R	CXCR1_uc002vhc.3_Missense_Mutation_p.G162R	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	162					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.W161L(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ATAGACAGTCCCCAGCAGCCA	0.527000														30			7		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436522	56436522	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:56436522C>T	uc003xsf.3	+	2	1721	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	563						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATCAGAAATTCGCAGAGCGGG	0.567000														45			6		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436788	72436788	+	Silent	SNP	C	T	T	rs145203828		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72436788C>T	uc002jkp.3	+	1	1519	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Silent_p.F303F|GPRC5C_uc002jkt.3_Silent_p.F291F|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	291						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CCTGGGCCTTCGTCCTCTTCT	0.617000														44			12		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283797	159283797	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159283797G>A	uc010piu.2	-	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GAGGACATAGGAGATAAAGAC	0.502000														87			4		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165986573	165986573	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:165986573G>A	uc002ucx.3	-	16	3291	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	SCN3A_uc002ucy.3_Silent_p.F884F|SCN3A_uc002ucz.3_Silent_p.F884F|SCN3A_uc002uda.1_Silent_p.F753F|SCN3A_uc002udb.1_Silent_p.F753F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	933						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACACAATCAGGAAGGAGTGGA	0.498000														125			26		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508123	106508123	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:106508123C>T	uc003vdv.4	+	1	202	c.117C>T	c.(115-117)ccC>ccT	p.P39P	PIK3CG_uc003vdu.3_Silent_p.P39P|PIK3CG_uc003vdw.3_Silent_p.P39P	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	39					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCTCATCCCCATCGAGTTCG	0.652000														87			8		0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389030	57389030	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57389030G>A	uc021qzf.1	+	0	37	c.37G>A	c.(37-39)Gag>Aag	p.E13K	GPR182_uc001smk.3_Missense_Mutation_p.E13K	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	13						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E13E(1)		endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGGCCCCTCGGAGGGGGTCAC	0.597000														117			24		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938027	12938027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:12938027C>T	uc004cvd.3	+	2	1092	c.922C>T	c.(922-924)Cga>Tga	p.R308*	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Nonsense_Mutation_p.R290*	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	290					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						GACCCAACTTCGATACCTAAA	0.423000														45			12		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784106	24784106	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:24784106G>A	uc001iru.4	+	7	2218	c.1815G>A	c.(1813-1815)agG>agA	p.R605R	KIAA1217_uc001irs.3_Silent_p.R525R|KIAA1217_uc001irt.4_Silent_p.R570R|KIAA1217_uc010qcy.2_Silent_p.R570R|KIAA1217_uc010qcz.2_Silent_p.R570R|KIAA1217_uc001irv.1_Silent_p.R420R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.R288R|KIAA1217_uc001irz.3_Silent_p.R288R|KIAA1217_uc001irx.3_Silent_p.R288R|KIAA1217_uc001iry.3_Silent_p.R288R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	605					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						CAGCCAACAGGAACCACACAG	0.423000														63			12		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53673625	53673625	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53673625C>T	uc001sck.2	+	11	2565	c.2474C>T	c.(2473-2475)aCc>aTc	p.T825I	ESPL1_uc001scj.2_Missense_Mutation_p.T500I|ESPL1_uc010soe.1_Missense_Mutation_p.T36I	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	825					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTCCTCCTGACCCTCGGCTGT	0.622000														100			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594433	179594433	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179594433C>T	uc021vsy.1	-	59	15040	c.14815G>A	c.(14815-14817)Gac>Aac	p.D4939N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1600N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5866							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)			GTGCCTGCGTCATTTCGAGCT	0.458000														98			28		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424120	56424120	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56424120G>A	uc010ygg.2	-	4	1088	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	355	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTAGCCAGGGGAACCAATTCT	0.473000														80			13		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086313	100086313	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100086313C>T	uc003uvd.1	+	3	1128	c.969C>T	c.(967-969)atC>atT	p.I323I	NYAP1_uc003uve.1_Silent_p.I105I	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	323	Pro-rich.																CTTGTGAAATCCCCCCGCCCT	0.682000														76			9		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6214928	6214928	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:6214928G>A	uc001amb.2	-	4	648	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGACATGGGGATCTTCGGGT	0.657000														69			15		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648950	169648950	+	Silent	SNP	G	A	A	rs139930955	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:169648950G>A	uc003qwt.3	-	3	419	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	57	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAAGCGCACGAAGCGGTAAG	0.592000														61			15		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331686	8331686	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:8331686C>T	uc003zkk.3	-	43	6173	c.5430G>A	c.(5428-5430)gaG>gaA	p.E1810E	PTPRD_uc003zkp.3_Silent_p.E1404E|PTPRD_uc003zkq.3_Silent_p.E1403E|PTPRD_uc003zkr.3_Silent_p.E1394E|PTPRD_uc003zks.3_Silent_p.E1403E|PTPRD_uc022bdj.1_Silent_p.E1400E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1810	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1809R(1)		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)		GCACTCCTTGCTCTGGCCAGT	0.507000										TSP Lung(15;0.13)				58			4		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30510802	30510802	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30510802C>T	uc010gdx.1	+	7	863	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Missense_Mutation_p.P91S|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	204	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGATGATATTCCCGTGGAGAA	0.398000														62			17		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227963478	227963478	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:227963478C>T	uc021vxr.1	-	17	1237	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	COL4A4_uc021vxs.1_Missense_Mutation_p.G379E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	379	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTGTTTCTCCATAGCGGCC	0.527000														50			8		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944841	112944841	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:112944841G>A	uc002tho.1	+	7	1349	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	FBLN7_uc010fki.1_Missense_Mutation_p.A314T|FBLN7_uc010fkj.1_Missense_Mutation_p.A226T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	360					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.A360T(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CATGGCCACAGCCTCTGCCCC	0.642000														85			15		0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378913	142378913	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142378913G>A	uc003waa.1	+	1	181	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TCCAGGAATGGAACTACACCT	0.428000														95			38		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142288	54142288	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:54142288G>A	uc003xrh.1	-	2	1087	c.712C>T	c.(712-714)Cct>Tct	p.P238S	OPRK1_uc022aup.1_Missense_Mutation_p.P118S|OPRK1_uc003xri.1_Missense_Mutation_p.P238S|OPRK1_uc010lyc.1_Missense_Mutation_p.P149S	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	238					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATGAGGACAGGGATCACGAAG	0.532000														50			7		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:60105331G>A	uc001npd.3	+	1	279	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	89						integral to membrane	receptor activity	p.E89K(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453000														85			9		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649963	102649963	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102649963C>T	uc001phg.2	-	2	514	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	159					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CAAAAGAGATCATTATATCAG	0.403000														87			15		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381435	156381435	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156381435G>A	uc003lwh.2	-	1	448	c.391C>T	c.(391-393)Cta>Tta	p.L131L	TIMD4_uc010jii.2_Silent_p.L131L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	131						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCTCTGTAGATTCAGGCGC	0.507000														36			6		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822251	129822251	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:129822251G>A	uc009zyl.1	-	3	1555	c.1227C>T	c.(1225-1227)atC>atT	p.I409I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	409						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTCAGACGTGATCTCTCCGG	0.582000														137			10		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760603	120760603	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:120760603T>C	uc003eec.4	+	3	484	c.344T>C	c.(343-345)cTa>cCa	p.L115P	STXBP5L_uc011bji.2_Missense_Mutation_p.L115P	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	115					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)		GCAGCTGTCCTACAGCTCCAA	0.363000														40			10		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137793	63137793	+	Missense_Mutation	SNP	C	T	T	rs143461929	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63137793C>T	uc001nww.3	+	0	533	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	89					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAGAAGTGTCGTCGCTTTGT	0.537000														86			5		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542993	28542993	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:28542993C>T	uc003nlo.3	-	2	2107	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	497	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CACAAAAATTCAGTCCAGTGT	0.443000														91			18		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212923	26212923	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	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														92			33		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61458119	61458119	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61458119G>A	uc002ydm.3	+	15	742	c.739_splice	c.e15-1	p.G247_splice		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	247	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCCTCTGCAGGGTCCCATTGG	0.677000														36			8		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747244	10747244	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10747244C>T	uc002mpf.3	+	14	1618	c.1479C>T	c.(1477-1479)gcC>gcT	p.A493A	SLC44A2_uc002mpe.4_Silent_p.A491A|SLC44A2_uc002mpg.1_Silent_p.A213A|SLC44A2_uc002mph.3_Silent_p.A42A	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	493					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTTCTCTGCCTTTGGCCGGG	0.716000														48			5		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754401	110754401	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:110754401T>C	uc009wfr.3	+	0	1066	c.280T>C	c.(280-282)Ttc>Ctc	p.F94L	KCNC4_uc001dzf.3_Missense_Mutation_p.F94L|KCNC4_uc001dzh.3_Missense_Mutation_p.F94L|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.F94L	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	94					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		gggctgcgAGTTCTTCTTCGA	0.736000														28			5		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410050	130410050	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130410050G>A	uc004ewe.4	-	14	3079	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	IGSF1_uc004ewd.3_Silent_p.F927F|IGSF1_uc022cdv.1_Silent_p.F918F|IGSF1_uc004ewf.2_Silent_p.F907F	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	927	Ig-like C2-type 9.				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						TGTGGAGAAGGAAGTCAGCTG	0.522000														39			16		0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80394569	80394569	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:80394569C>T	uc002kev.4	+	6	1074	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	HEXDC_uc002kew.3_Missense_Mutation_p.P220S|HEXDC_uc010wvm.2_Non-coding_Transcript|HEXDC_uc010wvn.1_5'Flank	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	220					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGGTGGAGCCGGTGCTCTG	0.652000														24			3		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81332073	81332073	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:81332073C>T	uc003uhl.3	-	18	2176	c.2011_splice	c.e18-1	p.G671_splice	HGF_uc003uhm.3_Splice_Site_p.G666_splice	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	671	Peptidase S1.				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						CCATAATCCCCCTAGGAGTAA	0.363000														57			6		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82443887	82443887	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:82443887G>A	uc002bgt.1	-	17	3077	c.2908C>T	c.(2908-2910)Cgc>Tgc	p.R970C	EFTUD1_uc002bgu.1_Missense_Mutation_p.R919C	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	970					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGTGCATAGCGACATGCTTCT	0.478000														102			23		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109384259	109384259	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:109384259C>T	uc002tem.4	+	19	7390	c.7264C>T	c.(7264-7266)Cgt>Tgt	p.R2422C		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2422	RanBD1 3.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAGCTGTTCGTTTTAAACT	0.368000														277			11		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70983763	70983763	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70983763G>A	uc003pfg.4	-	11	1211	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	COL9A1_uc003pfe.4_5'UTR|COL9A1_uc003pff.4_Missense_Mutation_p.S108L	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	351	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						AAATCCACGCGATCCAGGCAC	0.294000														17			3		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57411519	57411519	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57411519C>T	uc001cyp.3	-	6	1147	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	C8B_uc010oon.2_Missense_Mutation_p.M298I|C8B_uc010ooo.2_Missense_Mutation_p.M308I	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	360	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCTCTTTGTTCATAACGAGGG	0.473000														64			17		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414998	46414998	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:46414998G>A	uc003cpo.4	+	2	727	c.605G>A	c.(604-606)gGg>gAg	p.G202E	CCR5_uc010hjd.3_Missense_Mutation_p.G202E|CCR5_uc021wxb.1_Missense_Mutation_p.G202E	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	202					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GTCATCTTGGGGCTGGTCCTG	0.458000														121			32		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49166724	49166724	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49166724G>A	uc002pkb.3	-	5	1197	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_3'UTR	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	367	NTR.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACTCACCATGGTCCTGCTGGC	0.547000														133			26		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24349530	24349530	+	Missense_Mutation	SNP	C	T	T	rs61757471		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:24349530C>T	uc003xeb.3	+	13	1584	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	ADAM7_uc003xec.3_Missense_Mutation_p.P263S	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	491	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAATGGATTTCCTTGCAAGAA	0.478000														75			15		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	865868	865868	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:865868G>T	uc002wei.3	-	3	791	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	ANGPT4_uc010zpn.2_Missense_Mutation_p.Q224K	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	230					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGGCGCTCTGGCGGCTCAGC	0.672000														5			3		1	1	1	1	0
NPLOC4	55666	broad.mit.edu	37	17	79536077	79536077	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79536077G>A	uc002kau.3	-	13	1596	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	NPLOC4_uc002kat.4_Missense_Mutation_p.P472S|NPLOC4_uc010wur.1_Missense_Mutation_p.P311S|NPLOC4_uc010dic.3_5'Flank|NPLOC4_uc002kas.3_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	472					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTTTCAATAGGAAATGGATTT	0.363000														44			12		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	112888	112888	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:112888G>A	uc002cfl.4	-	5	823	c.680C>T	c.(679-681)tCc>tTc	p.S227F	RHBDF1_uc010uty.2_Missense_Mutation_p.S250F|RHBDF1_uc010utz.2_Missense_Mutation_p.S227F|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	227					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ATCCCTAACGGAGCGGCCCTG	0.642000														77			12		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389879	77389879	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:77389879G>A	uc002ffc.4	-	8	1837	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L	ADAMTS18_uc010chc.1_Missense_Mutation_p.S61L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S169L|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.	473	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S473L(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGAAGACCATGAAAACACTCC	0.473000														68			12		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158140822	158140822	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:158140822C>T	uc002tzg.3	+	1	1738	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	495	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCACAATAACCTCCCAACCAC	0.463000														85			8		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30325549	30325549	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:30325549A>C	uc002ymr.2	-	16	3380	c.3367T>G	c.(3367-3369)Tta>Gta	p.L1123V		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1077							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTGTTAAATAACAGCTGCAAA	0.328000														27			6		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20122583	20122583	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:20122583C>T	uc010rdm.2	+	33	6811	c.6450C>T	c.(6448-6450)atC>atT	p.I2150I	NAV2_uc001mpp.3_Silent_p.I2030I|NAV2_uc001mpr.4_Silent_p.I2094I|NAV2_uc021qew.1_Silent_p.I2097I|NAV2_uc009yhx.3_Silent_p.I1158I|NAV2_uc009yhz.3_Silent_p.I739I|NAV2_uc001mpu.3_Silent_p.I532I	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2153						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCGTCGGATCATTCTCTCTG	0.572000														118			18		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511188	4511188	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4511188C>T	uc002mar.1	-	2	2742	c.2742G>A	c.(2740-2742)aaG>aaA	p.K914K	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	914	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						AGACGGTGTCCTTGGTACCGG	0.602000														93			8		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904277	73904277	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:73904277C>T	uc011dyh.2	+	14	2343	c.1996C>T	c.(1996-1998)Cca>Tca	p.P666S	KCNQ5_uc011dyi.2_Missense_Mutation_p.P657S|KCNQ5_uc010kat.3_Missense_Mutation_p.P638S|KCNQ5_uc003pgk.3_Missense_Mutation_p.P647S|KCNQ5_uc011dyj.2_Missense_Mutation_p.P537S|KCNQ5_uc011dyk.2_Missense_Mutation_p.P397S	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	647					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)		ATTCCAGATCCCACCTTTTGA	0.483000														68			4		0	0	1	0	0
LOC100009676	100009676	broad.mit.edu	37	3	101395684	101395684	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:101395684G>A	uc003dvg.3	+	0	411	c.196G>A	c.(196-198)Ggt>Agt	p.G66S	ZBTB11_uc003dve.4_Silent_p.T25T|ZBTB11_uc003dvf.2_Silent_p.T25T					Homo sapiens uncharacterized LOC100009676 (LOC100009676), non-coding RNA.																		CATTGCCCTCGGTGCCCGGCG	0.657000														25			7		0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4447596	4447596	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4447596G>A	uc002man.2	-	5	663	c.566C>T	c.(565-567)cCc>cTc	p.P189L	UBXN6_uc002mam.2_Missense_Mutation_p.P136L	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	189	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CTCCTCCTCGGGGTGCAGGTG	0.667000														69			6		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55152041	55152041	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55152041C>T	uc010ooe.1	+	14	2955	c.2631C>T	c.(2629-2631)atC>atT	p.I877I	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.I445I|HEATR8_uc010ood.1_Silent_p.I395I|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Silent_p.I877I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.I79I|HEATR8_uc001cxu.3_Silent_p.I23I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	877						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTACCACATCGGCCTCAACC	0.622000														43			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444318	179444318	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179444318C>T	uc021vsy.1	-	267	60127	c.59902G>A	c.(59902-59904)Gaa>Aaa	p.E19968K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13663K|TTN_uc021vta.1_Missense_Mutation_p.E13596K|TTN_uc021vtb.1_Missense_Mutation_p.E13471K|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20895	Fibronectin type-III 44.						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)			ACAGTGATTTCGCTTGGGGTT	0.428000														96			19		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55282743	55282743	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55282743C>T	uc001cyb.4	+	8	1186	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	C1orf177_uc001cya.4_Silent_p.L378L	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	378										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATCCCTATTCCTGAGTGGATC	0.612000														51			17		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147967479	147967479	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:147967479C>T	uc004fcp.3	+	7	1802	c.1323C>T	c.(1321-1323)acC>acT	p.T441T	AFF2_uc004fco.3_Silent_p.T402T|AFF2_uc004fcq.3_Silent_p.T431T|AFF2_uc004fcr.3_Silent_p.T402T|AFF2_uc011mxb.2_Silent_p.T406T|AFF2_uc004fcs.3_Silent_p.T408T|AFF2_uc011mxc.2_Silent_p.T82T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	441					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)					CTGTGAAGACCTTGACCACTC	0.493000														149			48		0	0	1	0	0
MBD3	53615	broad.mit.edu	37	19	1578450	1578450	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:1578450G>A	uc002ltj.3	-	5	787	c.765C>T	c.(763-765)gcC>gcT	p.A255A	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Silent_p.A223A|MBD3_uc002ltl.1_Silent_p.A255A	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	255					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGTCACGGGCCAGCTCCT	0.692000														75			7		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42618590	42618590	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:42618590C>T	uc010dni.3	+	4	4437	c.4141C>T	c.(4141-4143)Ctt>Ttt	p.L1381F		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1381						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTTATCTCTCCTTGCTGCATC	0.517000									Schinzel-Giedion syndrome					60			5		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64519507	64519507	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:64519507C>T	uc001oax.4	-	13	2474	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	PYGM_uc001oay.4_Missense_Mutation_p.E465K	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	553					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACTTTGTATTCCCTCTCTAGG	0.512000														122			17		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72107824	72107824	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72107824G>A	uc002fby.3	+	1	69	c.39G>A	c.(37-39)tgG>tgA	p.W13*	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	13					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCCTGCTCTGGGGACGACAGC	0.522000														115			11		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516048	138516048	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:138516048G>A	uc010nbd.1	-	4	980	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	242					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.D241Y(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATTCTTTGATGAAGTCTAAAA	0.398000														87			23		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773416	141773416	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141773416C>T	uc002tvj.1	-	12	3011	c.2039G>A	c.(2038-2040)tGg>tAg	p.W680*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	680					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCATCCATCCAGGCCTTCTC	0.408000										TSP Lung(27;0.18)				94			8		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58125899G>A	uc010rke.2	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(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)				GAACAGATAGGAAATCAAGGT	0.373000														38			8		0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118891747	118891747	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:118891747G>A	uc001ldb.1	-	3	779	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_199131	NP_954582	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 2, mRNA.	0						nucleus	sequence-specific DNA binding	p.S178S(2)|p.S178Y(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTGCCCCCGGAGTCCCCAC	0.517000														51			7		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20639370	20639370	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:20639370C>A	uc001mqd.3	+	6	1473	c.1200C>A	c.(1198-1200)ctC>ctA	p.L400L	SLC6A5_uc009yic.3_Silent_p.L165L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	400					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTCTGCCTCTTCCTGGCTT	0.478000														141			17		1.87028e-06	1.88636e-06	1	1	0
NEUROD1	4760	broad.mit.edu	37	2	182543237	182543237	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:182543237C>T	uc021vto.1	-	0	351	c.351G>A	c.(349-351)ctG>ctA	p.L117L	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Silent_p.L117L|NEUROD1_uc021vtn.1_Silent_p.L117L	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	117	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCGCCGCGTTCAGTCCGTGCA	0.547000														40			5		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765707	50765707	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:50765707C>T	uc021vhh.1	-	8	2748	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	NRXN1_uc002rxb.4_Silent_p.L281L|NRXN1_uc021vhg.1_Silent_p.L649L|NRXN1_uc021vhi.1_Silent_p.L645L|NRXN1_uc021vhj.1_Silent_p.L605L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	609	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCATCATCCAGGTCCAGAA	0.517000														59			7		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72255991	72255991	+	Silent	SNP	C	T	T	rs148288565	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:72255991C>T	uc021rkj.1	-	1	1329	c.906G>A	c.(904-906)gaG>gaA	p.E302E	DACH1_uc021rkk.1_Silent_p.E302E|DACH1_uc021rkl.1_Silent_p.E302E	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	300	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.P301A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGTGAGAGTTCTCTGGGGAGG	0.413000														32			3		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103155837	103155837	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103155837G>A	uc022ajr.1	-	49	8074	c.7914C>T	c.(7912-7914)ttC>ttT	p.F2638F	RELN_uc022ajq.1_Silent_p.F2638F|RELN_uc010liz.3_Silent_p.F2638F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2638					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)		GCCACCAGCGGAAGCGAGTGG	0.507000														35			12		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114450894	114450894	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:114450894C>T	uc001ppc.3	-	4	1240	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	FAM55D_uc001ppd.3_Silent_p.T69T	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	353						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		ACTGGCGGATCGTGGAATCTC	0.413000														129			7		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55128600C>T	uc003pcl.3	+	3	1057	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R183C	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373000														28			5		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103326776	103326776	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:103326776C>T	uc001vpi.4	+	26	3579	c.3476C>T	c.(3475-3477)cCt>cTt	p.P1159L		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1159					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGAAAGTCCTTTGGATTCT	0.453000														61			4		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387218	44387218	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:44387218G>A	uc003oxl.3	+	8	1435	c.1125G>A	c.(1123-1125)gtG>gtA	p.V375V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	375	Interaction with PPP1R8.				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)			TCACCAATGTGGACACCCCAT	0.453000														75			4		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592200	17592200	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:17592200G>A	uc001bai.3	+	3	433	c.393G>A	c.(391-393)agG>agA	p.R131R		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	131					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGCAGGACAGGAACTTTGTAG	0.542000														105			9		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41115513	41115513	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:41115513A>G	uc002ooh.1	+	12	1705	c.1705A>G	c.(1705-1707)Acc>Gcc	p.T569A	LTBP4_uc002oog.1_Missense_Mutation_p.T532A|LTBP4_uc002ooi.1_Missense_Mutation_p.T502A|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc002ook.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	569	Cys-rich.|EGF-like 3.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCGGCTACACCTGCGCTTG	0.706000														64			17		0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65714115	65714115	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:65714115G>A	uc002jgd.1	+	0	55	c.52G>A	c.(52-54)Ggg>Agg	p.G18R	NOL11_uc010wql.1_5'UTR|NOL11_uc010deu.1_5'Flank	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	18						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTGAGCGCCGGGCCTGAAGG	0.572000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			3		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196597	133196597	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:133196597G>A	uc003ytj.3	-	2	720	c.495C>T	c.(493-495)ttC>ttT	p.F165F	KCNQ3_uc003yti.3_Silent_p.F45F|KCNQ3_uc010mdt.3_Silent_p.F165F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	165					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTCCAAAGATGAAAATAGCAA	0.512000														95			14		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681990	55681990	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55681990C>T	uc010rir.2	-	0	69	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGTCACTTTCATCTCTGGGT	0.348000														56			6		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542280	55542280	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55542280C>T	uc003xsd.1	+	3	5986	c.5838C>T	c.(5836-5838)ttC>ttT	p.F1946F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1946					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)			TTGAAAATTTCTTGGGTTTTT	0.343000														39			6		0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230724	104230724	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:104230724A>T	uc001kvt.3	+	4	773	c.554A>T	c.(553-555)aAc>aTc	p.N185I	TMEM180_uc001kvs.3_Intron|TMEM180_uc010qql.2_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.3_Missense_Mutation_p.N185I	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	185						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCTTTTGGAACAAGGAGGAT	0.617000														124			15		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40662159	40662159	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40662159C>T	uc001zlk.1	+	7	3935	c.3846C>T	c.(3844-3846)ttC>ttT	p.F1282F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	1282					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGATGGCTTCTGTTCCTCAG	0.632000														45			7		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67857917	67857917	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:67857917G>A	uc002lkp.2	-	8	1114	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.S349F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	349							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)				TGAATGAACGGATATCCTGGA	0.418000														58			10		0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106184786	106184786	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:106184786G>A	uc004emu.4	-	16	3012	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.S900L|MORC4_uc004emw.4_Missense_Mutation_p.S648L	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	913							ATP binding|zinc ion binding	p.R736C(1)|p.R913C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CCGATCTCACGAAGCTCCAAG	0.522000														26			6		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10508849	10508849	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:10508849G>A	uc001min.1	+	5	1249	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	AMPD3_uc010rbz.1_Missense_Mutation_p.E134K|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.E293K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E300K|AMPD3_uc009yfy.2_Missense_Mutation_p.E293K	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	293					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATGTTAAACGAAATGTCCGA	0.498000														178			25		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832635	101832635	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:101832635C>T	uc001pgm.3	+	5	1139	c.869C>T	c.(868-870)tCa>tTa	p.S290L	KIAA1377_uc001pgn.3_Missense_Mutation_p.S246L|KIAA1377_uc010run.2_Missense_Mutation_p.S91L|KIAA1377_uc009yxa.1_Missense_Mutation_p.S91L	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	290							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AATATGCAATCAACTAATCTC	0.348000														48			5		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472805	6472805	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:6472805C>T	uc001iji.1	-	15	2115	c.2031G>A	c.(2029-2031)cgG>cgA	p.R677R	PRKCQ_uc001ijj.2_Silent_p.R644R|PRKCQ_uc009xim.2_Silent_p.R581R|PRKCQ_uc009xin.2_Silent_p.R608R|PRKCQ_uc010qax.2_Silent_p.R519R	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	644	AGC-kinase C-terminal.				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						CAATCTCCTTCCGTTCAAGTT	0.602000														53			10		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148966	103148966	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103148966G>A	uc002tbz.4	+	11	2673	c.2216G>A	c.(2215-2217)gGa>gAa	p.G739E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	739					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TACTTGGGTGGAGTAAGGAGG	0.493000														30			4		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508742	24508742	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:24508742G>A	uc001iru.4	+	1	661	c.258G>A	c.(256-258)atG>atA	p.M86I	KIAA1217_uc001irs.3_Missense_Mutation_p.M6I|KIAA1217_uc001irt.4_Missense_Mutation_p.M86I|KIAA1217_uc010qcy.2_Missense_Mutation_p.M86I|KIAA1217_uc010qcz.2_Missense_Mutation_p.M86I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	86					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						CATCTGAGATGGATCGGAAGA	0.527000														76			11		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013278	57013278	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:57013278C>T	uc003pdm.1	+	9	2619	c.2395C>T	c.(2395-2397)Cat>Tat	p.H799Y	ZNF451_uc003pdl.3_Missense_Mutation_p.H799Y|ZNF451_uc003pdn.1_Missense_Mutation_p.H799Y|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.H799Y	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAAGCATTTCATGATCCTGA	0.423000														36			4		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48646831	48646831	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:48646831T>C	uc002pia.1	-	10	1003	c.883A>G	c.(883-885)Acg>Gcg	p.T295A	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.T227A|LIG1_uc010xzg.1_Missense_Mutation_p.T264A|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	295					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTCTCAAACGTCCGGGCCACA	0.597000								Nucleotide excision repair (NER)						81			13		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103288627	103288627	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:103288627A>T	uc001tjq.1	-	2	711	c.238T>A	c.(238-240)Ttc>Atc	p.F80I	PAH_uc010swc.1_Missense_Mutation_p.F80I	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	80	ACT.				L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAATGGGTGAAAAATTCATAC	0.433000														64			4		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17779260	17779260	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:17779260G>A	uc003ncg.4	-	32	4170	c.4010C>T	c.(4009-4011)tCa>tTa	p.S1337L	KIF13A_uc003ncf.3_Missense_Mutation_p.S1324L|KIF13A_uc003nch.4_Missense_Mutation_p.S1337L|KIF13A_uc003nci.4_Missense_Mutation_p.S1324L|KIF13A_uc003nce.2_5'UTR	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1337					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCCCCATCTGATGTGCCTTC	0.517000														32			3		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884066	19884066	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19884066G>A	uc010vav.2	-	1	411	c.180C>T	c.(178-180)tcC>tcT	p.S60S	GPRC5B_uc021tef.1_Silent_p.S26S|GPRC5B_uc002dgt.3_Silent_p.S34S	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	34										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGCCTCGGGATGTGCTGG	0.637000														39			11		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45285708	45285708	+	Missense_Mutation	SNP	G	A	A	rs148127553		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:45285708G>A	uc002ozs.3	+	3	802	c.739G>A	c.(739-741)Gtc>Atc	p.V247I	CBLC_uc010ejt.3_Missense_Mutation_p.V247I	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	247	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTATGATGAGGTCCAAGAGCG	0.622000			M		AML									88			17		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219028987	219028987	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219028987G>A	uc021vwq.1	-	0	948	c.948C>T	c.(946-948)ttC>ttT	p.F316F	CXCR1_uc002vhc.3_Silent_p.F316F|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	316					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGATCTTGAGGAATCCATGGC	0.527000														85			23		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313571	233313571	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:233313571G>A	uc001hvl.2	-	16	3485	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1084						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATCTTCTTGGGGAGAGGGTCA	0.443000														33			5		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394581	164394581	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:164394581C>T	uc003iqp.4	-	0	467	c.306G>A	c.(304-306)agG>agA	p.R102R		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	102						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTGAAGTTTCCTCAGGTTCA	0.547000														28			4		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337715	102337715	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:102337715C>T	uc004eju.3	-	7	824	c.753G>A	c.(751-753)ctG>ctA	p.L251L	NXF3_uc010noi.1_Silent_p.L101L|NXF3_uc011mrw.1_Silent_p.L251L|NXF3_uc011mrx.1_Silent_p.L162L	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	251						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L251M(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CATGGACGTCCAGGGAGGCAG	0.488000														71			24		0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226055597	226055597	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:226055597C>T	uc001hpm.2	-	6	1127	c.505G>A	c.(505-507)Gac>Aac	p.D169N	TMEM63A_uc010pvi.1_Missense_Mutation_p.D169N	NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	169						integral to membrane|lysosomal membrane	nucleotide binding	p.D169D(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCCAGCAAGTCCCCTGAGAGG	0.552000														38			6		0	0	1	0	0
FAM162B	221303	broad.mit.edu	37	6	117073798	117073798	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117073798C>T	uc003pxi.2	-	3	598	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	Homo sapiens family with sequence similarity 162, member B (FAM162B), mRNA.	151						integral to membrane				large_intestine(2)|lung(4)	6						GCAGCTTCTTCACGCCACTTA	0.398000														118			32		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110439090	110439090	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:110439090C>T	uc010npv.1	+	12	1266	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	PAK3_uc010npt.1_Silent_p.F377F|PAK3_uc010npu.1_Silent_p.F377F|PAK3_uc004eoy.1_Silent_p.F132F|PAK3_uc004eoz.2_Silent_p.F377F|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Silent_p.F398F|PAK3_uc004epa.2_Silent_p.F392F	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	392	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTGGATTTCCTGCACTCAA	0.323000										TSP Lung(19;0.15)				78			24		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988731	137988731	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:137988731C>T	uc002tva.1	+	6	1748	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S473F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCATCCTGTTCCCAGTCCTGT	0.502000														30			3		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48252354	48252354	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:48252354C>T	uc002lev.3	+	4	1876	c.876C>T	c.(874-876)atC>atT	p.I292I	MAPK4_uc010xdm.2_Silent_p.I81I|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	292	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGGAGAAGATCCTGACCTTTA	0.552000														83			12		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752394	15752394	+	Missense_Mutation	SNP	C	T	T	rs138587161		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15752394C>T	uc010xok.2	+	1	219	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_uc010xol.2_Missense_Mutation_p.R57W|CYP4F3_uc002nbj.3_Missense_Mutation_p.R57W|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R57W	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	57					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						ACCCCCGAAACGGAATTGGTT	0.622000														75			17		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81221462	81221462	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:81221462G>A	uc002bfw.1	+	19	2819	c.2559G>A	c.(2557-2559)agG>agA	p.R853R	KIAA1199_uc010unn.1_Silent_p.R853R	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	853										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						TGGACAATAGGATCTGGGGCC	0.527000														60			11		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15508582	15508582	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:15508582C>T	uc003nbj.3	+	11	2987	c.2743C>T	c.(2743-2745)Ccc>Tcc	p.P915S	JARID2_uc011div.2_Missense_Mutation_p.P743S|JARID2_uc011diw.1_Missense_Mutation_p.P877S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	915	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTGACTATTCCCTGGCTAAA	0.408000														50			3		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716293	23716293	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	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														86			13		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36552919	36552919	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:36552919C>T	uc022abu.1	-	21	2187	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	AOAH_uc003tfh.4_Missense_Mutation_p.G556E|AOAH_uc011kba.2_Missense_Mutation_p.G524E	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATTCTCCTTTCCCAGGATTTG	0.557000														100			18		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427198	38427198	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38427198C>T	uc003jlc.2	+	13	2244	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	EGFLAM_uc003jlb.2_Missense_Mutation_p.S633F|EGFLAM_uc003jle.2_Missense_Mutation_p.S399F|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	633	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATTACCTTTCCTTCATGGAA	0.488000														119			8		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48660350	48660350	+	Silent	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:48660350T>A	uc002pia.1	-	4	411	c.291A>T	c.(289-291)acA>acT	p.T97T	LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.T97T|LIG1_uc010xzg.1_Silent_p.T67T|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	97					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCTCAGGAGATGTGGCAGGAC	0.592000								Nucleotide excision repair (NER)						197			34		0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32395921	32395921	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:32395921C>T	uc010dmn.1	+	5	653	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	DTNA_uc002kxu.2_Missense_Mutation_p.P218S|DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Missense_Mutation_p.P218S|DTNA_uc002kxw.2_Missense_Mutation_p.P218S|DTNA_uc002kxx.2_Missense_Mutation_p.P218S|DTNA_uc002kxz.2_Missense_Mutation_p.P218S|DTNA_uc002kxy.2_Missense_Mutation_p.P218S|DTNA_uc010dmj.3_Missense_Mutation_p.P218S|DTNA_uc002kyb.4_Missense_Mutation_p.P218S|DTNA_uc010dml.3_Missense_Mutation_p.P218S|DTNA_uc010dmm.3_Missense_Mutation_p.P218S|DTNA_uc010xby.1_5'Flank|DTNA_uc021uiq.1_5'Flank|DTNA_uc021uir.1_5'Flank|DTNA_uc002kyd.4_5'Flank|DTNA_uc010dmo.3_5'Flank|DTNA_uc002kye.3_5'Flank|DTNA_uc010xca.2_5'Flank|DTNA_uc010xbz.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	218	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTCAGATCCTCCCCCGCAGTG	0.398000														80			7		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362274	362274	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:362274G>A	uc002lol.3	-	7	1109	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	THEG_uc002lom.3_Missense_Mutation_p.P332S	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	356					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCGAGGGGACGCCTGTCG	0.602000														114			8		0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37819081	37819081	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37819081C>T	uc002hsd.3	+	14	1461	c.1258C>T	c.(1258-1260)Cac>Tac	p.H420Y	STARD3_uc010wei.2_Missense_Mutation_p.H420Y|STARD3_uc002hse.3_Missense_Mutation_p.H402Y|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_Missense_Mutation_p.H286Y|TCAP_uc002hsh.3_5'Flank	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	420	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTACCTCATCCACCAGAGCCT	0.667000														106			11		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100211879	100211879	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:100211879C>T	uc001pga.3	+	22	3476	c.2972C>T	c.(2971-2973)tCt>tTt	p.S991F	CNTN5_uc021qpb.1_Missense_Mutation_p.S991F|CNTN5_uc021qpc.1_Missense_Mutation_p.S917F|CNTN5_uc010ruk.2_Missense_Mutation_p.S262F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	991	Fibronectin type-III 4.				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)		TCTCAGGTTTCTCTGGGCTGG	0.448000														79			31		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368325	45368325	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:45368325C>T	uc002ilj.3	+	8	1151	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	ITGB3_uc002ili.1_Silent_p.I377I|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	377	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTCAGAAAATCCGTTCTAAAG	0.483000														91			16		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591027	86591027	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:86591027C>T	uc001dlj.3	-	2	1067	c.992G>A	c.(991-993)gGg>gAg	p.G331E	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.G331E	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	331					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)		GGCCTGAATCCCATGGTTTGT	0.413000														57			8		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159804975	159804975	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159804975G>A	uc001fue.4	+	5	992	c.782_splice	c.e5-1	p.G261_splice	VSIG8_uc001fug.1_3'UTR	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	261						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCTTACCAGGGAAAAAGAAAA	0.498000														39			8		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97051774	97051774	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:97051774G>A	uc021rcc.1	+	3	568	c.490G>A	c.(490-492)Gat>Aat	p.D164N				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	164										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAATGTGGTTGATTTGAAATG	0.358000														100			12		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845732	176845732	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176845732C>T	uc001glc.3	-	20	3616	c.3404G>A	c.(3403-3405)aGg>aAg	p.R1135K	ASTN1_uc001glb.1_Missense_Mutation_p.R1135K|ASTN1_uc001gld.1_Missense_Mutation_p.R1135K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1143	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCGCTTGGCCTGGAGCGCCG	0.572000														52			5		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28914126	28914126	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:28914126G>A	uc002kwp.3	+	7	1178	c.966G>A	c.(964-966)atG>atA	p.M322I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	322	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGATAGAAATGAATGAAAGAA	0.279000														49			7		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471365	121471365	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:121471365C>T	uc001tzj.1	-	1	386	c.380G>A	c.(379-381)aGg>aAg	p.R127K	OASL_uc001tzk.1_Missense_Mutation_p.R127K	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	127					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	p.R127R(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGCTCCATCCTCAGGTCCTC	0.587000														77			10		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427947	75427947	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:75427947A>T	uc003kei.1	+	1	506	c.372A>T	c.(370-372)gaA>gaT	p.E124D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	124					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGGAGCTGGAATCAGAAAGGA	0.552000														30			9		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114823345	114823345	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:114823345G>A	uc001tvo.3	-	6	1186	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	TBX5_uc001tvp.3_Missense_Mutation_p.P231S|TBX5_uc001tvq.3_Missense_Mutation_p.P181S|TBX5_uc010syv.2_Missense_Mutation_p.P231S	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	231					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGGCAAAGGGATTATTCTCA	0.453000														36			4		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080521	55080521	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55080521C>T	uc001cxn.3	-	3	559	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	143						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TTCTTGAAGTCCAGTTTGATG	0.567000														39			8		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425885	75425885	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:75425885G>A	uc002sng.2	-	0	761	c.176C>T	c.(175-177)gCc>gTc	p.A59V	TACR1_uc002snh.3_Missense_Mutation_p.A59V	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	59					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCTTTTGTGGGCTAAGATGAT	0.517000														23			4		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135238	33135238	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33135238C>T	uc003ocx.1	-	55	4315	c.4087G>A	c.(4087-4089)Ggc>Agc	p.G1363S	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1277S|COL11A2_uc003ocz.1_Missense_Mutation_p.G1256S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1363	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.P1362H(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCATCAGGGCCAGGTTTCCCT	0.652000														63			5		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688182	18688182	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:18688182C>T	uc003sui.3	+	9	1384	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	HDAC9_uc003sue.3_Missense_Mutation_p.P445L|HDAC9_uc011jyd.2_Missense_Mutation_p.P445L|HDAC9_uc003suh.3_Missense_Mutation_p.P445L|HDAC9_uc003suj.3_Missense_Mutation_p.P404L|HDAC9_uc011jya.2_Missense_Mutation_p.P443L|HDAC9_uc003sua.1_Missense_Mutation_p.P423L|HDAC9_uc003sud.2_Missense_Mutation_p.P445L|HDAC9_uc011jyc.2_Missense_Mutation_p.P404L|HDAC9_uc011jyb.2_Missense_Mutation_p.P401L|HDAC9_uc003suf.2_Missense_Mutation_p.P476L|HDAC9_uc010kud.2_Missense_Mutation_p.P448L|HDAC9_uc011jye.2_Missense_Mutation_p.P417L|HDAC9_uc011jyf.2_Missense_Mutation_p.P368L|HDAC9_uc010kue.1_Missense_Mutation_p.P188L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	445					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.P448P(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CGTCACAGACCCCTGAACCGA	0.502000														54			16		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440872	124440872	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124440872C>T	uc010san.2	+	0	908	c.908C>T	c.(907-909)cCc>cTc	p.P303L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	303					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)		ATGTTGAATCCCCTAATCTAC	0.443000														40			9		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251172	43251172	+	Silent	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43251172G>T	uc003ouq.1	+	13	2973	c.2694G>T	c.(2692-2694)ccG>ccT	p.P898P	TTBK1_uc021yzs.1_Silent_p.P186P	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	898						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAAGCCCCCGGGGCCTGGGG	0.672000														24			12		0.00010058	0.000101184	1	1	0
SERPINB12	89777	broad.mit.edu	37	18	61225600	61225600	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61225600G>A	uc010xeo.2	+	1	184	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	SERPINB12_uc010xen.2_Missense_Mutation_p.E62K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	62					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACACTTCAACGAATTTTCCCA	0.418000														81			18		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155509978	155509978	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:155509978C>T	uc003iod.1	-	2	389	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	FGA_uc003ioe.1_Missense_Mutation_p.E111K|FGA_uc003iof.1_Missense_Mutation_p.E111K	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	111					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)	CTCAAAATTTCCATTATATTA	0.274000														75			16		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108220569	108220569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108220569C>T	uc003dxa.1	-	3	446	c.389G>A	c.(388-390)tGg>tAg	p.W130*		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	130	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						ATAGATCATCCACTGGCCATA	0.458000														38			15		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813831	106813831	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:106813831C>T	uc003ymd.3	+	7	1544	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	ZFPM2_uc011lhs.2_Silent_p.I238I	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	507					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAAGATATCACCATGGTCC	0.502000														142			19		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156918259	156918259	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:156918259C>T	uc001fqo.3	-	21	2877	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	ARHGEF11_uc010phu.2_Missense_Mutation_p.E29K|ARHGEF11_uc001fqn.3_Missense_Mutation_p.E653K|ARHGEF11_uc001fqp.1_Missense_Mutation_p.E132K	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	613					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGAGGCTTTCAGAGCGGCCC	0.572000														57			8		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143603400	143603400	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:143603400C>T	uc003ywm.3	+	19	3282	c.3099C>T	c.(3097-3099)gcC>gcT	p.A1033A		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1033					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCACCGAGGCCTGGCAGTCCT	0.692000														27			3		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143091909	143091909	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143091909C>T	uc003wcz.3	-	13	2431	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	782	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACCTGGGTTTCGTATGTGCCA	0.502000														37			4		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11568276	11568276	+	Missense_Mutation	SNP	G	A	A	rs34253737		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11568276G>A	uc002gne.3	+	14	2790	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K	DNAH9_uc010coo.3_Missense_Mutation_p.E202K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	908	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTATCTTCTGGAAAATACTGG	0.378000														84			11		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32362719	32362719	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32362719G>A	uc003obg.1	-	5	1162	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S	BTNL2_uc010jty.1_Missense_Mutation_p.P111S|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Missense_Mutation_p.P178S	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	388						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TGGGGCTGTGGGAACCACCCA	0.577000														193			14		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44083235	44083235	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:44083235C>T	uc001cjr.3	+	23	4531	c.4191C>T	c.(4189-4191)atC>atT	p.I1397I	PTPRF_uc001cjs.3_Silent_p.I1388I|PTPRF_uc001cju.3_Silent_p.I786I|PTPRF_uc009vwt.3_Silent_p.I957I|PTPRF_uc001cjv.3_Silent_p.I868I|PTPRF_uc001cjw.3_Silent_p.I623I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1397	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTACCTCTATCGATGGTGAGC	0.552000														125			20		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564288	142564288	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142564288C>T	uc011kst.2	+	9	2299	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	EPHB6_uc011ksu.2_Silent_p.I504I|EPHB6_uc003wbs.3_Silent_p.I212I|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Silent_p.I212I|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	504	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAACAGCATCACGGTGTCCT	0.592000														82			8		0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52005005	52005005	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:52005005C>T	uc001jjd.3	-	1	337	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ASAH2_uc009xos.3_Missense_Mutation_p.G113R	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	113					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	p.G113*(1)|p.G94*(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GCTACTTGTCCTGTGCAGTCA	0.423000														200			17		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203543	56203543	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:56203543T>G	uc002lhj.4	-	4	4090	c.3876A>C	c.(3874-3876)gaA>gaC	p.E1292D	ALPK2_uc002lhk.1_Missense_Mutation_p.E623D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1292							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATGCTGCTATTTCAGAGGGGG	0.512000														114			13		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201816	248201816	+	Missense_Mutation	SNP	G	A	A	rs142994715		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248201816G>A	uc001idw.3	+	0	343	c.247G>A	c.(247-249)Gat>Aat	p.D83N	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D83N(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAtggtttatgattttctgta	0.418000														151			29		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477071	110477071	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110477071C>T	uc003yne.3	+	48	8114	c.8010C>T	c.(8008-8010)ttC>ttT	p.F2670F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2670					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.A2669S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCTTCAGTTCCATAACTTTG	0.453000										HNSCC(38;0.096)				90			7		0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283803	99283803	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:99283803G>A	uc003ppe.3	+	0	1224	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	352					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CGCAGCGCAAGGGCGCAAGCG	0.592000														109			6		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115455667	115455667	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115455667G>A	uc001efr.3	+	18	1752	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E515K|SYCP1_uc009wgw.3_Missense_Mutation_p.E515K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	515					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)		TAAGAATACTGAATTAACTTC	0.299000														45			15		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53740875	53740875	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53740875G>A	uc002qbg.1	-	4	1256	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	ZNF677_uc002qbf.1_Missense_Mutation_p.H369Y	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTCCAGTATGAATTCTTTCA	0.408000														47			12		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012817	73012817	+	Splice_Site	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:73012817A>T	uc001sxa.3	+	13	2364	c.2334_splice	c.e13+1	p.N778_splice		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	778					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						AACATTTTCAATGTAAAAAGA	0.323000														36			5		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277457	238277457	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:238277457C>T	uc002vwl.2	-	9	4934	c.4649G>A	c.(4648-4650)gGa>gAa	p.G1550E	COL6A3_uc002vwo.2_Missense_Mutation_p.G1344E|COL6A3_uc010znj.1_Missense_Mutation_p.G943E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1550	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G1550E(2)		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)		CTGGGATTTTCCACCCAGGAC	0.562000														94			7		0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1854449	1854449	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1854449C>T	uc001aik.3	-	8	1506	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	C1orf222_uc001ail.3_Missense_Mutation_p.R219Q			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	219										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGGTGGTCCGGATACAGCC	0.672000														54			18		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159568146	159568147	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:159568146_159568147CC>TT	uc003ipz.3	+	15	1812_1813	c.1549_1550CC>TT	c.(1549-1551)cct>TTt	p.P517F	RXFP1_uc010iqk.3_Missense_Mutation_p.P385F|RXFP1_uc011cja.2_Missense_Mutation_p.P412F|RXFP1_uc010iqo.3_Missense_Mutation_p.P469F|RXFP1_uc011cjb.2_Missense_Mutation_p.P415F|RXFP1_uc011cjc.2_Missense_Mutation_p.P436F|RXFP1_uc011cjd.2_Missense_Mutation_p.P436F|RXFP1_uc010iql.3_Missense_Mutation_p.P361F|RXFP1_uc011cje.2_Missense_Mutation_p.P544F|RXFP1_uc010iqm.3_Missense_Mutation_p.P484F|RXFP1_uc011cjf.2_Missense_Mutation_p.P386F|RXFP1_uc010iqn.3_Missense_Mutation_p.P462F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	517						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTGTCTATCCTTTTAGATGT	0.361000														46			5		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107578611	107578611	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:107578611G>A	uc004bcl.3	-	24	3955	c.3551C>T	c.(3550-3552)tCc>tTc	p.S1184F		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1184					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGAGGTTGGAGATAGCAGA	0.557000														47			13		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628425	51628425	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51628425G>A	uc010yct.2	+	0	289	c.194G>A	c.(193-195)gGg>gAg	p.G65E	SIGLEC9_uc002pvu.3_Missense_Mutation_p.G65E	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	65	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TTCCGGGAAGGGGCCAATACA	0.602000														72			6		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19027857	19027857	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19027857G>A	uc002dfp.2	+	2	527	c.397G>A	c.(397-399)Gag>Aag	p.E133K	TMC7_uc010vao.1_Missense_Mutation_p.E133K|TMC7_uc002dfq.3_Missense_Mutation_p.E133K|TMC7_uc010vap.2_Missense_Mutation_p.E23K	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	133						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						GAGGTTCCTAGAGAAGGCTCG	0.537000														45			7		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203779	84203779	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84203779C>T	uc002fhl.4	+	7	1526	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	DNAAF1_uc010vnw.2_Missense_Mutation_p.P213S	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	449	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGCCCCACCACCCCCGCCACC	0.612000														57			11		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653485	19653485	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:19653485G>A	uc002ykw.3	-	21	2571	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	847	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGTCAGATTTGATTTCATATG	0.408000														122			9		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601504	61601504	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:61601504G>A	uc002jay.3	+	1	161	c.81G>A	c.(79-81)cgG>cgA	p.R27R	KCNH6_uc002jax.1_Silent_p.R27R|KCNH6_uc010wpl.2_5'UTR|KCNH6_uc010wpm.2_Silent_p.R27R|KCNH6_uc002jaz.1_Silent_p.R27R	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	27					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCCCAGGTCGGAAGTTCCTGA	0.562000														189			26		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734603	141734603	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141734603C>T	uc003vwy.3	+	15	1975	c.1921C>T	c.(1921-1923)Cct>Tct	p.P641S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	641	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)	ATGGTCCATCCCTGGCGTGCT	0.507000														42			4		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217122	150217122	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150217122G>A	uc003whk.3	+	1	190	c.60G>A	c.(58-60)ggG>ggA	p.G20G	GIMAP7_uc022apu.1_Silent_p.G20G	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	20							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGAAGTGGGAAAAGTGCAA	0.498000														51			5		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105765477	105765477	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:105765477C>T	uc004bbs.2	+	2	182	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	38	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CCTGTTATTTCCCAAACCACA	0.368000														55			6		0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62223901	62223901	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62223901G>A	uc002yfp.1	-	6	1293	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	GMEB2_uc002yfo.1_Missense_Mutation_p.P194S|GMEB2_uc002yfq.1_Missense_Mutation_p.P272S	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	272					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			AGCTGCAGGGGAGGGTCCTGG	0.652000														35			6		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96698059	96698059	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96698059G>A	uc002svf.3	-	1	272	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	GPAT2_uc002svg.3_5'UTR|GPAT2_uc010yuh.2_Missense_Mutation_p.P17S|GPAT2_uc002svh.3_Missense_Mutation_p.P17S	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	17					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CGGCCACTGGGGCTGCTCCTT	0.582000														14			3		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242561	53242561	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53242561G>A	uc001sbc.1	-	0	218	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	52	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GTACTCCCACGAGAGCCTTCC	0.672000														26			3		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212013	155212013	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:155212013C>T	uc021xge.1	-	15	2340	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	PLCH1_uc021xgd.1_Missense_Mutation_p.G688E|PLCH1_uc021xgf.1_Missense_Mutation_p.G670E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	688	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)			CATCATTCGTCCTTCAGATTG	0.428000														56			8		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189272	11189272	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:11189272C>T	uc003wtp.1	+	0	778	c.657C>T	c.(655-657)ctC>ctT	p.L219L		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	219						integral to membrane											CCTCCTGCCTCCCAACAGTGG	0.617000														102			8		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043561	20043561	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20043561G>A	uc002dgu.1	-	1	720	c.558C>T	c.(556-558)atC>atT	p.I186I	GPR139_uc010vaw.1_Silent_p.I93I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	186						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGAAGCAGTGGATCCAGATGA	0.507000														49			5		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322760	5322760	+	Missense_Mutation	SNP	C	T	T	rs145655133		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5322760C>T	uc010qza.2	-	0	417	c.417G>A	c.(415-417)atG>atA	p.M139I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCTATGTTCATCACTCGGG	0.453000														86			18		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640213	94640213	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94640213C>T	uc001dqj.4	-	22	3367	c.2998G>A	c.(2998-3000)Gat>Aat	p.D1000N	ARHGAP29_uc009wdq.1_Non-coding_Transcript	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1000					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)		GTTGACCTATCAGATTTCAGA	0.418000														85			21		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599579	123599579	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123599579G>A	uc003vle.3	+	4	1525	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	SPAM1_uc011koa.1_Silent_p.L18L|SPAM1_uc003vld.3_Silent_p.L362L|SPAM1_uc022aks.1_Silent_p.L362L|SPAM1_uc003vlf.4_Silent_p.L362L|SPAM1_uc010lku.3_Silent_p.L362L	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	362					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)	AGACTATACTGAATCCTTACA	0.373000														48			6		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874886	80874886	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:80874886G>A	uc010ysh.2	+	17	2756	c.2751G>A	c.(2749-2751)gtG>gtA	p.V917V	CTNNA2_uc010yse.2_Silent_p.V869V|CTNNA2_uc010ysf.2_Silent_p.V869V|CTNNA2_uc010ysg.2_Silent_p.V824V|CTNNA2_uc010ysi.2_Silent_p.V501V|CTNNA2_uc010ysj.2_Silent_p.V198V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	917					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCCCCTTGTGAAGAGAGAAA	0.468000														161			21		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681201	100681201	+	Silent	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100681201C>G	uc003uxp.1	+	2	6557	c.6504C>G	c.(6502-6504)gtC>gtG	p.V2168V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2168	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATGCCTGTCAGCACCACAG	0.468000														364			25		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47303981	47303981	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:47303981C>T	uc001ner.1	+	8	1710	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	MADD_uc001neq.2_Nonsense_Mutation_p.Q507*|MADD_uc001nev.1_Nonsense_Mutation_p.Q507*|MADD_uc001nes.1_Nonsense_Mutation_p.Q507*|MADD_uc001net.1_Nonsense_Mutation_p.Q507*|MADD_uc009yln.1_Nonsense_Mutation_p.Q507*|MADD_uc001neu.1_Nonsense_Mutation_p.Q507*|MADD_uc001nez.2_Nonsense_Mutation_p.Q507*|MADD_uc001new.2_Nonsense_Mutation_p.Q507*|MADD_uc001nex.2_Nonsense_Mutation_p.Q507*	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	507	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCAGGGATTTCAGATGCACAC	0.552000														84			6		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105819914	105819914	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:105819914C>T	uc001kxr.3	-	13	1273	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	COL17A1_uc010qqv.1_Silent_p.G352G	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	368	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAAAGACCTTCCCGCTGTCCT	0.507000														53			17		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43197445	43197445	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:43197445T>C	uc003xpz.1	+	10	1377	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	POTEA_uc003xqa.1_Missense_Mutation_p.I399T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	445										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACATTGCTCATTGAACAACTC	0.358000														54			7		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220422626	220422626	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220422626G>A	uc010fwk.3	-	10	4023	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	OBSL1_uc002vmh.1_Missense_Mutation_p.P228S|OBSL1_uc010zli.1_Missense_Mutation_p.P136S|OBSL1_uc010fwl.2_Missense_Mutation_p.P1237S	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1237	Ig-like 10.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCATGGGCTGGGCCTGCAGCC	0.687000														33			6		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599543	136599543	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:136599543C>T	uc003qgx.1	-	3	729	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	BCLAF1_uc003qgy.1_Missense_Mutation_p.R157Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R157Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R159Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	159					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)		CTGAGACCCTCGTCTTTTAGA	0.428000														166			15		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615052	10615052	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:10615052G>A	uc010rcc.1	-	16	2548	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.S713F|MRVI1_uc001miw.2_Missense_Mutation_p.S712F|MRVI1_uc001mix.3_Missense_Mutation_p.S406F|MRVI1_uc001miz.2_Missense_Mutation_p.S630F|MRVI1_uc010rcd.1_Missense_Mutation_p.S515F|MRVI1_uc009ygd.1_Missense_Mutation_p.S406F|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.	694					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)		GGCTGGTAAGGAGGGAATGGA	0.522000														58			5		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762655	131762655	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:131762655C>T	uc011mvd.1	-	5	1950	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	HS6ST2_uc011mvb.1_Missense_Mutation_p.E366K|HS6ST2_uc011mvc.1_Missense_Mutation_p.E326K|HS6ST2_uc011mve.1_Missense_Mutation_p.E472K|HS6ST2_uc011mva.1_Missense_Mutation_p.E198K	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	472						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTTTGAATTTCCTCATTGATC	0.388000														102			29		0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12518125	12518126	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:12518125_12518126GC>TT	uc001mki.3	+	4	690_691	c.521_522GC>TT	c.(520-522)agc>aTT	p.S174I	PARVA_uc010rck.1_Missense_Mutation_p.S121I	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	Homo sapiens parvin, alpha (PARVA), mRNA.	174	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	p.R173G(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CCTCCCAGGAGCATCAAGTGGA	0.490000														17			3		0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567852	45567852	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:45567852C>T	uc001rom.2	-	2	834	c.297G>A	c.(295-297)acG>acA	p.T99T						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.									p.T99T(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCTCAACTCCGTTTGCCTTT	0.373000														55			9		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118344279	118344279	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:118344279C>T	uc001pta.3	+	2	2428	c.2405C>T	c.(2404-2406)tCc>tTc	p.S802F	MLL_uc001ptb.3_Missense_Mutation_p.S802F|MLL_uc001psz.1_Missense_Mutation_p.S835F|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.	802					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)		CCTTCTCATTCCCTGACTCAG	0.483000			"""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"""									79			20		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390600	61390600	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61390600G>A	uc002ljk.4	+	8	1314	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	SERPINB11_uc010xes.2_Silent_p.T207T|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Silent_p.T268T|SERPINB11_uc010dqe.3_Silent_p.T181T|SERPINB11_uc010dqf.3_Silent_p.T180T	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	382					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ATACCAACACGATCCTATTCT	0.502000														126			12		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202588148	202588148	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:202588148C>T	uc002uyo.3	-	21	3885	c.3529G>A	c.(3529-3531)Gga>Aga	p.G1177R	ALS2_uc002uyp.4_Missense_Mutation_p.G1177R|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1177					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGCCACATTCCCATATACTTT	0.403000														130			8		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587644	42587644	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:42587644C>T	uc003xpi.1	+	4	1322	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	398					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)			CTGCTGATTCCATTAGATACA	0.383000														26			6		0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	488599	488599	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:488599C>T	uc001lpj.3	+	7	982	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	269						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		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;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GAGTGGCTGTCCCTGAAGACG	0.632000														51			14		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13410061	13410061	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:13410061C>T	uc002mwy.3	-	18	2622	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	CACNA1A_uc010dzc.2_Missense_Mutation_p.E322K|CACNA1A_uc010xnd.2_Missense_Mutation_p.E799K|CACNA1A_uc021ups.1_Missense_Mutation_p.E796K|CACNA1A_uc010xne.2_Missense_Mutation_p.E799K|CACNA1A_uc010dze.2_Missense_Mutation_p.E796K|CACNA1A_uc021upt.1_Missense_Mutation_p.E797K	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	797					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGGTCCATTTCGTTATACAGG	0.622000														96			8		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207408038	207408038	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:207408038G>A	uc002vbq.3	+	5	941	c.718G>A	c.(718-720)Gag>Aag	p.E240K	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	240					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGTTCATGATGAGGTGAGTCT	0.418000														36			5		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413716	22413716	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:22413716C>T	uc001yuf.3	+	0	255	c.15C>T	c.(13-15)ttC>ttT	p.F5F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGGTGGACTTCCTCTCTGAGA	0.512000														220			9		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64434839	64434839	+	Missense_Mutation	SNP	C	T	T	rs139806166		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:64434839C>T	uc021qkw.1	-	8	2143	c.1681G>A	c.(1681-1683)Ggc>Agc	p.G561S	NRXN2_uc021qkx.1_Missense_Mutation_p.G530S|NRXN2_uc001oas.3_Missense_Mutation_p.G530S|NRXN2_uc001oaq.3_Missense_Mutation_p.G228S	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	561	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TAGAGGTGGCCGTCCAATAGC	0.632000														111			29		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40675107C>T	uc001zll.3	+	0	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	24						nucleus	protein binding	p.S24F(2)		central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GAGTGCGATTCCCACCCACTT	0.567000														58			12		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117156629	117156629	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117156629G>A	uc001egq.1	-	3	1295	c.590C>T	c.(589-591)tCc>tTc	p.S197F	IGSF3_uc001egr.1_Missense_Mutation_p.S197F	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	197	Ig-like C2-type 2.					integral to membrane				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)		TCGGCTCAGGGAGATGACCTC	0.617000														92			7		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751184	19751184	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:19751184C>T	uc009zzj.3	-	3	1044	c.939G>A	c.(937-939)atG>atA	p.M313I		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	313					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGCAGCAGGCCATGTACTTGC	0.572000														106			11		0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58711311	58711311	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:58711311C>T	uc002iyt.2	+	2	1031	c.799C>T	c.(799-801)Cct>Tct	p.P267S	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	267	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGACCAGATTCCTTTTCTGGC	0.393000														56			9		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10258295	10258295	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10258295G>A	uc002gmk.1	-	9	908	c.818C>T	c.(817-819)tCc>tTc	p.S273F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	273	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGTCACTCTGGATTTTTCTAA	0.368000														23			6		0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48651592	48651592	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:48651592G>A	uc004dkq.4	+	4	849	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	253					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						GTCAGTAAACGGGCAGGTACT	0.592000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									9			12		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869659	4869659	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4869659G>A	uc010qyo.2	-	0	780	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATCATAGGGATATAGAAGA	0.502000														73			14		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703791	4703791	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4703791C>T	uc001lzk.2	-	1	395	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	OR51E2_uc021qcr.1_Missense_Mutation_p.E51K	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCTGCGTTCCGTCCTTACG	0.507000														52			9		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744693	50744693	+	Missense_Mutation	SNP	G	A	A	rs104895424		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:50744693G>A	uc002egm.1	+	3	976	c.871G>A	c.(871-873)Gat>Aat	p.D291N	NOD2_uc021tia.1_Missense_Mutation_p.D123N|NOD2_uc010cbk.1_Missense_Mutation_p.D264N|NOD2_uc002egl.1_Missense_Mutation_p.D69N|NOD2_uc010cbl.1_Missense_Mutation_p.D69N|NOD2_uc010cbm.1_Missense_Mutation_p.D69N|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	291			D -> N (associated with Crohn disease).		JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.D290V(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCTCAATGACGATGCGGACAC	0.662000														21			4		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137322957	137322957	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:137322957G>A	uc003qhj.3	-	6	1833	c.1400C>T	c.(1399-1401)tCg>tTg	p.S467L	IL20RA_uc011edl.2_Missense_Mutation_p.S418L|IL20RA_uc003qhk.3_Missense_Mutation_p.S356L|IL20RA_uc003qhi.3_Missense_Mutation_p.S199L	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	467						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CCCCTCCTCCGAGTCTGTGTG	0.607000														83			15		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143090921	143090921	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143090921G>A	uc003wcz.3	-	15	2626	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	847	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TCCACAGGAGGGGGCAACCGG	0.582000														112			10		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648541	169648541	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:169648541T>C	uc003qwt.3	-	3	828	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	194	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCAGAGCCTTTGGCCACGTAC	0.592000														144			23		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156308	155156308	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:155156308C>T	uc003inw.2	-	24	8131	c.8131G>A	c.(8131-8133)Gaa>Aaa	p.E2711K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2711					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E2711K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATCTCCTTCCCCAAATGTT	0.532000														45			13		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30329731	30329731	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:30329731G>A	uc002ymr.2	-	14	2966	c.2953C>T	c.(2953-2955)Ctt>Ttt	p.L985F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	939							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACTCCCATAAGATAAGAATCT	0.378000														44			5		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328418	48328418	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48328418C>T	uc010rhu.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTTATCATTTCCTATGTTATC	0.463000														71			10		0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645763	236645764	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:236645763_236645764CT>TA	uc001hxu.1	+	5	527_528	c.462_463CT>TA	c.(460-465)tgcttc>tgTAtc	p.F155I	EDARADD_uc001hxv.1_Missense_Mutation_p.F145I	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	155	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACGAATTGTGCTTCCTGGAGCA	0.540000														93			6		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495673	71495673	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:71495673C>T	uc003kbw.4	+	4	6732	c.6491C>T	c.(6490-6492)cCg>cTg	p.P2164L	MAP1B_uc010iyw.1_Missense_Mutation_p.P2181L|MAP1B_uc010iyx.1_Missense_Mutation_p.P2038L|MAP1B_uc010iyy.1_Missense_Mutation_p.P2038L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2164						microtubule|microtubule associated complex	structural molecule activity	p.P2164Q(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)		GATGTTCCCCCGGAGACTGAA	0.577000														71			5		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780659	94780659	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94780659G>A	uc001ycv.3	-	1	431	c.327C>T	c.(325-327)ttC>ttT	p.F109F	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	109					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGGTGCTGGAAACCCTGGT	0.557000														37			4		0	0	1	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131560	142131560	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142131560G>A	uc010lnz.1	-	1	239	c.195C>T	c.(193-195)atC>atT	p.I65I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AATACTGAAAGATAAACTGGG	0.507000														80			8		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551458	1551458	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:1551458G>A	uc010gai.3	-	3	1176	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	359					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CACCATGGGTGATATCTGAGC	0.428000														146			19		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731372	92731372	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92731372G>A	uc003umf.3	-	2	4309	c.4039C>T	c.(4039-4041)Ctc>Ttc	p.L1347F	SAMD9_uc003umg.3_Missense_Mutation_p.L1347F|SAMD9_uc022ahg.1_Missense_Mutation_p.L1347F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1347						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCCAAGAGCCCAGAAAAC	0.368000														59			30		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773233	60773233	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:60773233G>A	uc002sae.1	-	1	486	c.258C>T	c.(256-258)tcC>tcT	p.S86S	BCL11A_uc002sab.3_Silent_p.S86S|BCL11A_uc002sac.3_Silent_p.S86S|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Silent_p.S86S|BCL11A_uc002saf.1_Silent_p.S86S|BCL11A_uc010fcg.3_Silent_p.S86S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	86	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S86S(4)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTGGTGAAGGGGAAGGTGGCT	0.463000			T	IGH@	B-CLL									66			13		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420755	55420755	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55420755G>A	uc002qib.2	+	3	545	c.507G>A	c.(505-507)ggG>ggA	p.G169G	NCR1_uc002qic.2_Silent_p.G169G|NCR1_uc002qie.2_Silent_p.G169G|NCR1_uc002qid.2_Silent_p.G74G|NCR1_uc002qif.2_Silent_p.G74G|NCR1_uc010esj.2_Silent_p.G62G	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	169	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity	p.Y168*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GCGGATACGGGAAGGTCCAGG	0.572000														60			13		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597484	136597484	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:136597484C>T	uc003qgx.1	-	4	1432	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K	BCLAF1_uc003qgy.1_Silent_p.K391K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K391K|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	393					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)		AATCATTAAACTTTTGTTTTC	0.428000														410			9		0	0	1	0	0
DFFB	1677	broad.mit.edu	37	1	3786216	3786216	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:3786216C>T	uc001alc.3	+	4	881	c.558C>T	c.(556-558)ttC>ttT	p.F186F	DFFB_uc001ale.3_Non-coding_Transcript|DFFB_uc009vlp.3_Non-coding_Transcript|DFFB_uc001alb.3_Non-coding_Transcript|DFFB_uc010nzn.2_Silent_p.F210F|DFFB_uc009vlq.3_Non-coding_Transcript|DFFB_uc009vlr.3_Silent_p.F137F|DFFB_uc001ald.3_Silent_p.F122F	NM_004402	NP_004393	O76075	DFFB_HUMAN	Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), mRNA.	186					DNA fragmentation involved in apoptotic nuclear change|apoptotic chromosome condensation|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGGAGGAATTCCTGCGGGTCC	0.647000														36			3		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649369	75649369	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:75649369G>A	uc004ecm.2	+	0	1324	c.1046G>A	c.(1045-1047)gGt>gAt	p.G349D		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	349	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCACTCCCGGTGAGGGACCA	0.697000														24			9		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:136599532C>T	uc003qgx.1	-	3	740	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E161K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E161K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E163K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	163					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)		GTTTGTTTTTCCTGAGACCCT	0.433000														164			15		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232178	21232178	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21232178T>C	uc002red.3	-	25	7690	c.7562A>G	c.(7561-7563)gAc>gGc	p.D2521G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2521					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R2520*(2)		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)	ATACATTCGGTCTCGTGTATC	0.428000														45			14		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484460	60484460	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:60484460G>A	uc010wpc.2	+	9	981	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	EFCAB3_uc002izu.2_Missense_Mutation_p.V252M	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	252							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGTGGATGGGGTGGTGATGGG	0.358000														50			8		0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66538259	66538259	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:66538259C>T	uc002jho.3	-	6	1264	c.976G>A	c.(976-978)Gag>Aag	p.E326K	FAM20A_uc010wqp.2_Missense_Mutation_p.E188K|FAM20A_uc002jhn.3_Silent_p.R28R	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	326						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					ACAGCATACTCCGTCTTGCAC	0.607000														51			12		0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524078	108524078	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:108524078C>T	uc003vfo.3	-	1	382	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	112						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TTTCCCATTTCCTTTGGAAAA	0.323000														24			9		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135050	128135050	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128135050G>A	uc011ebt.2	-	3	885	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	THEMIS_uc010kfa.3_Missense_Mutation_p.P149S|THEMIS_uc021zfa.1_Missense_Mutation_p.P246S|THEMIS_uc010kfb.3_Missense_Mutation_p.P211S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	246	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTAGACTGGGGAGGATGCGG	0.353000														91			10		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341549	121341549	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121341549G>A	uc003eeg.2	+	2	1483	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	425					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)		ACTGTTCATGGATTTTGCCAC	0.502000														101			21		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48423242	48423242	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:48423242G>A	uc003csr.3	+	8	1224	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*	FBXW12_uc010hjv.3_Nonsense_Mutation_p.W327*|FBXW12_uc003css.3_Nonsense_Mutation_p.W276*|FBXW12_uc010hjw.3_Nonsense_Mutation_p.W245*	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	346										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCCTATCTGGATGGGAGCCA	0.443000														40			6		0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25679392	25679392	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:25679392C>T	uc001bke.3	+	4	466	c.294C>T	c.(292-294)ttC>ttT	p.F98F	TMEM50A_uc010oeq.2_Intron|TMEM50A_uc009vrr.3_Non-coding_Transcript|TMEM50A_uc009vrs.3_Intron	NM_014313	NP_055128	O95807	TM50A_HUMAN	Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.	98						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTTGGCTTTTCGTTGGTTTCA	0.333000														66			13		0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	14983063	14983063	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:14983063G>A	uc002yjb.1	+	0	566	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	172			E -> Q.			plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GAGGGACAAGGAAAAGAGGTA	0.577000														78			7		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493947	173493947	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173493947C>T	uc001giz.2	-	19	2908	c.2485G>A	c.(2485-2487)Gat>Aat	p.D829N	SLC9C2_uc009wwe.2_Missense_Mutation_p.D387N|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	829					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCATGCTTATCAATAATGCCT	0.383000														77			7		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966232	20966232	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20966232G>A	uc010vbe.2	-	54	10974	c.10974C>T	c.(10972-10974)ttC>ttT	p.F3658F	DNAH3_uc010vbd.2_Silent_p.F1093F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3658	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACAGCTTTGGAAGAACACAG	0.507000														117			20		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100226993	100226993	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100226993G>A	uc003uvv.1	-	9	1342	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.H254Y	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	425					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)					ACAACGTAGTGATCTGGGGAG	0.607000														55			14		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519768	53519768	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:53519768G>A	uc003pcb.4	-	1	444	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	101	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTTTTTTTAGGATGTTGTAAA	0.423000														105			11		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163250930	163250930	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:163250930C>T	uc002uch.2	-	11	2908	c.2679G>A	c.(2677-2679)agG>agA	p.R893R		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	893					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATGACAATTTCCTTCTTCTTA	0.333000														32			5		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825580	4825580	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4825580G>A	uc021qcs.1	-	0	31	c.31C>T	c.(31-33)Cat>Tat	p.H11Y		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	11					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)		GACACAGGATGAGAAGAGCTG	0.498000														37			6		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518303	113518303	+	Silent	SNP	C	T	T	rs150965727		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:113518303C>T	uc010ljy.1	-	3	2875	c.2844G>A	c.(2842-2844)acG>acA	p.T948T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	948					glycogen metabolic process	integral to membrane		p.T948T(6)|p.T948M(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTGATTTCGTAGAAATAG	0.378000														67			7		0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128755	68128755	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:68128755G>A	uc002jiq.3	+	2	763	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	KCNJ16_uc002jin.3_Missense_Mutation_p.R176Q|KCNJ16_uc002jio.3_Missense_Mutation_p.R176Q|KCNJ16_uc002jip.3_Missense_Mutation_p.R176Q|KCNJ16_uc021uch.1_Missense_Mutation_p.R176Q	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	176					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCAACTGCTCGAAAGAGAGCC	0.468000														80			6		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685174	44685174	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44685174G>A	uc010zxl.1	+	22	3226	c.3150G>A	c.(3148-3150)gaG>gaA	p.E1050E	SLC12A5_uc002xrb.2_Silent_p.E1027E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	1050					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)	TCTCCTCTGAGGGCATCAAGG	0.602000														34			8		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66124403	66124403	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:66124403C>T	uc002jgq.3	+	5		c.3526C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TTTCTGGATTCCCTACAGATG	0.483000														47			9		0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385420	141385420	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141385420G>A	uc003vwk.3	-	2	385	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	129										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CCGAAGAAGGGCCCCTTTCGG	0.517000														47			6		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404567	8404567	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:8404567G>A	uc003zkk.3	-	35	4923	c.4180C>T	c.(4180-4182)Cat>Tat	p.H1394Y	PTPRD_uc003zkp.3_Missense_Mutation_p.H988Y|PTPRD_uc003zkq.3_Missense_Mutation_p.H987Y|PTPRD_uc003zkr.3_Missense_Mutation_p.H978Y|PTPRD_uc003zks.3_Missense_Mutation_p.H987Y|PTPRD_uc022bdj.1_Missense_Mutation_p.H984Y	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1394	Tyrosine-protein phosphatase 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)		ACCCGGGAATGATCATATGCG	0.378000										TSP Lung(15;0.13)				25			4		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57815687	57815687	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:57815687G>A	uc010bfw.3	+	12	2909	c.2716_splice	c.e12-1	p.G906_splice	CGNL1_uc002aeg.3_Splice_Site_p.G906_splice	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	906						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCATTTGCAGGGAAATCTGAG	0.502000														24			6		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909109	123909109	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123909109C>T	uc001pzq.1	-	0	600	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		GCCCAATATTCACAAAGATGA	0.562000														139			33		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21252650	21252650	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21252650C>T	uc002red.3	-	11	1606	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	493	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCCATATTTCCAATGACCTG	0.428000														79			19		0	0	1	0	0
C20orf79	140856	broad.mit.edu	37	20	18794525	18794525	+	Silent	SNP	C	T	T	rs144518160	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:18794525C>T	uc002wrk.3	+	0	156	c.66C>T	c.(64-66)ttC>ttT	p.F22F	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	22							sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						TGGGCCAGTTCGAGGTTCTGG	0.512000														40			4		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6758996	6758996	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:6758996C>T	uc002wmu.1	+	2	1236	c.451C>T	c.(451-453)Cag>Tag	p.Q151*		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	151					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AGCAGAGCTTCAGGTTTTCCG	0.403000														65			8		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29005422	29005422	+	Missense_Mutation	SNP	C	T	T	rs141286646		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:29005422C>T	uc001usb.3	-	6	1124	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	FLT1_uc010aar.1_Missense_Mutation_p.R280Q|FLT1_uc001usc.3_Missense_Mutation_p.R280Q|FLT1_uc010tdp.1_Missense_Mutation_p.R280Q	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	280	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCAATTCGTCGCCTTACGGA	0.338000														36			5		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94543278	94543278	+	Missense_Mutation	SNP	G	A	A	rs138157885	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94543278G>A	uc001dqh.3	-	10	1626	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	ABCA4_uc010otn.1_Missense_Mutation_p.R508C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	508					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGAGGGTGCGATCAGTGATG	0.567000														97			17		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490893	65490893	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:65490893G>A	uc002aon.2	-	8	1912	c.1731C>T	c.(1729-1731)atC>atT	p.I577I		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	577					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						CTTCCAAAGTGATGGGCTTTT	0.512000														50			7		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371073	240371073	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:240371073C>T	uc010pye.2	+	5	3198	c.2973C>T	c.(2971-2973)ccC>ccT	p.P991P	FMN2_uc010pyd.2_Silent_p.P987P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	987	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			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)			CGGGCATACCCCCTCCTCCCC	0.716000														23			9		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741069	96741069	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:96741069C>T	uc001kka.4	+	6	1116	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	CYP2C9_uc009xut.3_Missense_Mutation_p.T362I	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	364					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTTCTCCCCACCAGCCTGCCC	0.502000														116			25		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525026	84525026	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:84525026G>A	uc004eeq.3	+	8	2006	c.1120G>A	c.(1120-1122)Gca>Aca	p.A374T	ZNF711_uc004eep.3_Missense_Mutation_p.A328T|ZNF711_uc004eeo.3_Missense_Mutation_p.A328T|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	328					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						TTTGGACTCAGCATTAGAAAG	0.318000														41			4		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24505352	24505352	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:24505352G>A	uc003jgr.2	-	7	1768	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	CDH10_uc011cnu.2_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	421	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S421F(2)|p.S421T(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCGATCCAAGGAAAATCTGAA	0.368000										HNSCC(23;0.051)				44			5		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203807494	203807494	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:203807494C>T	uc002uzo.2	+	3	390	c.110C>T	c.(109-111)tCc>tTc	p.S37F	ALS2CR8_uc002uzn.3_Intron|ALS2CR8_uc002uzm.3_Missense_Mutation_p.S37F|ALS2CR8_uc010zhy.1_Missense_Mutation_p.S37F|ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Intron|ALS2CR8_uc010zib.1_Intron|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S37F	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	37										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						AGGGATTCTTCCTTTGGACAA	0.353000														23			8		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816275	156816275	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156816275C>T	uc021ygm.1	+	28	3421	c.3283C>T	c.(3283-3285)Ctg>Ttg	p.L1095L	CYFIP2_uc011ddn.2_Silent_p.L1070L|CYFIP2_uc011ddo.2_Silent_p.L900L|CYFIP2_uc021ygn.1_Silent_p.L1095L|CYFIP2_uc021ygo.1_Silent_p.L1095L|CYFIP2_uc003lwt.3_Silent_p.L999L|CYFIP2_uc011ddp.2_Silent_p.L830L	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1121					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)			CGAGGTCATCCTGACCCGCAT	0.617000														39			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996645	20996645	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20996645A>G	uc010vbe.2	-	47	7419	c.7419T>C	c.(7417-7419)ctT>ctC	p.L2473L	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2473	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGATCTTCTTAAGATCTTCTC	0.498000														28			4		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717194	13717194	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:13717194C>T	uc001rbt.2	-	12	3157	c.2978G>A	c.(2977-2979)aGt>aAt	p.S993N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	993					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTGCCAATACTATGGGGCCG	0.562000														58			7		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115573855	115573855	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:115573855G>A	uc004eqi.3	+	4	478	c.347_splice	c.e4-1	p.G116_splice	SLC6A14_uc011mtm.2_Intron	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	116					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)	TTTTTTCCAGGTGTGGGAATT	0.284000														64			12		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099049	169099049	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:169099049C>T	uc011bpj.1	-	1	704	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	MECOM_uc003ffl.2_Missense_Mutation_p.E73K|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.E101K|MECOM_uc011bpl.1_Missense_Mutation_p.E101K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	101							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCACCTACTTCGATCTTCCTT	0.448000														107			17		0	0	1	0	0
AP4S1	11154	broad.mit.edu	37	14	31535417	31535417	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:31535417C>T	uc001wqw.4	+	1	404	c.15C>T	c.(13-15)ttC>ttT	p.F5F	AP4S1_uc021rry.1_Silent_p.F5F|AP4S1_uc001wqx.4_Silent_p.F5F|AP4S1_uc010amh.3_Silent_p.F5F|AP4S1_uc001wqy.4_Silent_p.F5F|AP4S1_uc021rrz.1_Silent_p.F5F	NM_007077	NP_009008	Q9Y587	AP4S1_HUMAN	Homo sapiens adaptor-related protein complex 4, sigma 1 subunit (AP4S1), transcript variant 1, mRNA.	5						Golgi apparatus|coated pit	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TAAAATTTTTCCTCATGGTGA	0.358000														93			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458968	179458968	+	Splice_Site	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179458968T>C	uc021vsy.1	-	246	50672	c.50447_splice	c.e246-1	p.A16816_splice	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Splice_Site_p.A10511_splice|TTN_uc021vta.1_Splice_Site_p.A10444_splice|TTN_uc021vtb.1_Splice_Site_p.A10319_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17743	Ig-like 101.						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)			GCGTTGGGGGTGCTAAAATTT	0.393000														40			3		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436940	248436940	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248436940G>A	uc010pzi.2	-	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCTCAGGAGGAAGTACATGG	0.532000														101			8		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24794630	24794630	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:24794630G>A	uc001wow.3	-	13	2195	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	ADCY4_uc010toh.2_Silent_p.F278F|ADCY4_uc001wox.3_Silent_p.F592F|ADCY4_uc001woy.3_Silent_p.F592F	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	592					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAAAAACCAGGAAGGTGCAGG	0.532000														45			8		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100404	110100404	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110100404T>A	uc003ymz.4	+	0	752	c.663T>A	c.(661-663)aaT>aaA	p.N221K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	221						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTTTCTTAAATCCCATTCCTT	0.363000														30			8		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623136	80623136	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:80623136G>A	uc001szd.3	+	6	568	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTATGGTCATGAAATAAAAAA	0.363000														41			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639119	179639119	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179639119G>A	uc021vsy.1	-	29	7097	c.6872C>T	c.(6871-6873)tCc>tTc	p.S2291F	TTN_uc021vsz.1_Missense_Mutation_p.S2245F|TTN_uc021vta.1_Missense_Mutation_p.S2245F|TTN_uc021vtb.1_Missense_Mutation_p.S2245F|TTN_uc002unb.2_Missense_Mutation_p.S2291F|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2291	Ig-like 12.						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)			ATTTTCTGGGGATACAATGCA	0.378000														46			11		0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036565	13036565	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:13036565G>A	uc009vnq.1	+	1	637	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	213										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CCAAGTGTTGGAAATTTGGAA	0.423000														143			26		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676125	123676125	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123676125C>T	uc010rzz.2	-	0	933	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTCAAGTTTTCCTTTGTATCA	0.373000														70			7		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923066	43923066	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:43923066C>T	uc010wka.2	+	0	811	c.794C>T	c.(793-795)tCg>tTg	p.S265L	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	265						integral to membrane	aspartic-type endopeptidase activity										CTGTCCTGCTCGCTCATGCTG	0.562000														101			12		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164714347	164714347	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:164714347C>T	uc003fei.3	-	39	4731	c.4668G>A	c.(4666-4668)agG>agA	p.R1556R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1556	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1556S(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTTGTGATTCCTTGAGTATG	0.353000										HNSCC(35;0.089)				41			7		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55545306	55545306	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55545306G>A	uc021onw.1	-	59	7358	c.7105C>T	c.(7105-7107)Ccc>Tcc	p.P2369S	USP24_uc001cyg.4_Missense_Mutation_p.P2203S	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	2369					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATGCTAATGGGTGGTCGTTGC	0.458000														98			24		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107678000	107678000	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107678000A>C	uc010ljo.1	-	29	4596	c.4512T>G	c.(4510-4512)aaT>aaG	p.N1504K	LAMB4_uc003vey.2_Missense_Mutation_p.N1504K|LAMB4_uc010ljp.1_Missense_Mutation_p.N473K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1504	Domain I.				cell adhesion	basement membrane		p.A1503V(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						CAAGCACACCATTCGCAACCT	0.398000														131			6		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973868	128973868	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:128973868C>T	uc001lju.1	-	0	833	c.792G>A	c.(790-792)agG>agA	p.R264R	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.R264R|FAM196A_uc001ljv.1_Silent_p.R264R|FAM196A_uc009yap.1_Silent_p.R264R	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	264										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTCGGGGGCCCTGGCACTGA	0.652000														33			3		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583296	7583296	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7583296G>A	uc003mxp.1	+	23	6080	c.5801G>A	c.(5800-5802)cGa>cAa	p.R1934Q	DSP_uc003mxq.1_Missense_Mutation_p.R1335Q|DSP_uc021yle.1_Missense_Mutation_p.R1491Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1934	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)		GAACGCTCCCGATATCAGAGG	0.517000														74			5		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267642	31267642	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:31267642C>T	uc003jhe.2	+	1	422	c.62C>T	c.(61-63)tCa>tTa	p.S21L	CDH6_uc003jhd.2_Missense_Mutation_p.S21L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	21					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCAACTCTCTCAACTCCACTA	0.522000														107			12		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227953439	227953440	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:227953439_227953440CC>TT	uc021vxr.1	-	20	1653_1654	c.1552_1553GG>AA	c.(1552-1554)ggg>AAg	p.G518K	COL4A4_uc021vxs.1_Missense_Mutation_p.G518K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	518	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCAGGGAGCCCCAAGTCTCCC	0.599000														102			11		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8492945	8492945	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:8492945G>A	uc003zkk.3	-	26	3127	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	795	Fibronectin type-III 5.				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)		GAGGGAGTAGGAAGTTTCAGG	0.483000										TSP Lung(15;0.13)				84			9		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003608	50003608	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:50003608C>T	uc010ria.2	-	0	464	c.430G>A	c.(430-432)Gca>Aca	p.A144T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CAGGCCACTGCCACCAGGAGA	0.512000														182			30		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218268	130218268	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130218268C>T	uc004evz.3	+	4	980	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ARHGAP36_uc004ewa.3_Missense_Mutation_p.S200F|ARHGAP36_uc004ewb.3_Missense_Mutation_p.S181F|ARHGAP36_uc004ewc.3_Missense_Mutation_p.S76F	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	212					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S212F(2)		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						TCAAAAATTTCCTTTCCAATT	0.498000														21			11		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663814	169663814	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:169663814C>T	uc011bpp.2	-	1		c.3989G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CCAGGATTGTCCTTCATAGGC	0.498000														145			5		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136529109	136529109	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:136529109C>T	uc004cep.4	-	20	2793	c.2659G>A	c.(2659-2661)Gac>Aac	p.D887N	SARDH_uc004ceo.3_Missense_Mutation_p.D887N|SARDH_uc011mdo.2_Missense_Mutation_p.D719N|SARDH_uc011mdn.2_Missense_Mutation_p.D887N|SARDH_uc004cen.3_Missense_Mutation_p.D337N	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	887					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGGGCATAGTCCCCGCTCTTC	0.577000														35			15		0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135864540	135864540	+	Silent	SNP	C	T	T	rs145418687		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:135864540C>T	uc004ccg.3	+	4	958	c.603C>T	c.(601-603)ttC>ttT	p.F201F	GFI1B_uc010mzy.3_Intron	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	201	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCAAAACCTTCGGCCACGCTG	0.662000														43			7		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807922	50807922	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:50807922C>T	uc003pag.3	+	5	1160	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	332					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P332H(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AACGGAGTTTCCCGCCAAAGC	0.478000														182			9		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122459896	122459896	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:122459896G>A	uc004etq.4	+	3	820	c.528G>A	c.(526-528)gcG>gcA	p.A176A	GRIA3_uc004etr.4_Silent_p.A176A|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.A160A	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	176					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCCTCCAAGCGATTATGGAAG	0.393000														23			13		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100136	66100136	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66100136G>A	uc001ohn.1	-	9	2090	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L	RIN1_uc010roy.1_Silent_p.L286L|RIN1_uc009yrd.1_Silent_p.L348L|RIN1_uc010roz.1_Silent_p.L550L|RIN1_uc010rpa.1_Silent_p.L489L	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	655	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGCTGGTTCAGGGTGGCAATC	0.627000														136			28		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059015	63059015	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63059015G>A	uc009yor.3	+	1	614	c.406G>A	c.(406-408)Gac>Aac	p.D136N	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.D84N	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	136						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCCAGTGGGACCTGGTATG	0.463000														59			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21042583	21042583	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21042583C>T	uc010vbe.2	-	36	5223	c.5223G>A	c.(5221-5223)gtG>gtA	p.V1741V		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1741	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTGTACTCCACAGCAAACT	0.493000														37			11		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57714429	57714429	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:57714429G>A	uc002emh.3	+	7	884	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GPR97_uc010vhv.2_Missense_Mutation_p.D141N|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_5'UTR	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	261	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCCACCTTGGACCAGTCCAC	0.597000														34			9		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906615	32906615	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:32906615C>T	uc001uub.1	+	9	1227	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	BRCA2_uc001uua.1_Missense_Mutation_p.H211Y	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	334					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)		AAAAATTTTCCATGAAGCAAA	0.294000			"""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)				70			11		0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27333296	27333296	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27333296G>A	uc010ofj.2	-	1	589	c.417C>T	c.(415-417)tcC>tcT	p.S139S	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	139										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCTGGAAGGATGCCTCAC	0.627000														121			7		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609032	95609032	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:95609032G>A	uc004asu.1	-	4	2186	c.2037C>T	c.(2035-2037)ctC>ctT	p.L679L	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Silent_p.L681L|ZNF484_uc004asv.1_Silent_p.L643L|ZNF484_uc010mrb.1_Silent_p.L643L	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GATGTATATGGAGACCTGACT	0.403000														43			14		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282887	140282887	+	Missense_Mutation	SNP	G	T	T	rs140778211		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140282887G>T	uc003etn.3	+	15	2757	c.2567G>T	c.(2566-2568)cGg>cTg	p.R856L		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	856					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TACCGGGTCCGGATCGCCCAC	0.547000										HNSCC(16;0.037)				139			12		0.00185496	0.0018613	1	1	0
PJA2	9867	broad.mit.edu	37	5	108714063	108714063	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:108714063G>A	uc003kos.4	-	3	1345	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	375					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)		GTGGATCCAAGAACATACAGT	0.413000														76			9		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21212778	21212778	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21212778G>A	uc010bwn.1	-	13	1778	c.1696C>T	c.(1696-1698)Ccc>Tcc	p.P566S	ZP2_uc002dii.2_Missense_Mutation_p.P536S	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	536	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTGATGTTGGGGTCATCCCTG	0.507000														97			8		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85559244	85559244	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:85559244C>T	uc001dkt.3	+	8	1152	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	WDR63_uc009wcl.3_Missense_Mutation_p.H282Y	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	321										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GACCGATACCCACCTGAAAGA	0.438000														110			27		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171509377	171509377	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:171509377G>A	uc003mbo.1	-	11	2242	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	648							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTAGTCCCGATCCTGCTCC	0.592000														75			12		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102992408	102992408	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:102992408G>A	uc002tbw.4	+	4	660	c.510G>A	c.(508-510)acG>acA	p.T170T	IL18R1_uc010ywd.2_Silent_p.T15T|IL18R1_uc010fiy.3_Silent_p.T170T|IL18R1_uc010ywc.2_Silent_p.T170T	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	170	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAAACCCAACGATAAAGAAGA	0.318000														6			3		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112622519	112622519	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:112622519G>A	uc021reb.1	-	60	10245	c.9849C>T	c.(9847-9849)atC>atT	p.I3283I		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGCCTTGCGGATGGCGCCTC	0.652000														145			9		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203962	118203962	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:118203962C>T	uc001lcl.4	+	3	494	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	131					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GGGAATACATCCATGCTGTAA	0.318000														64			14		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483745	26483745	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:26483745C>T	uc003gse.1	-	4	955	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	268					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	p.G268W(2)		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)	AGGTAACACCCATCGCTGTCC	0.602000														99			6		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42474436	42474436	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42474436C>T	uc002osh.3	-	17	2597	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K	ATP1A3_uc010xwf.2_Missense_Mutation_p.E826K|ATP1A3_uc010xwg.2_Missense_Mutation_p.E785K|ATP1A3_uc002osg.3_Missense_Mutation_p.E815K|ATP1A3_uc010xwh.2_Missense_Mutation_p.E828K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	815					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCGGCAGCCTCGTACGCCAGT	0.637000														33			7		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832996	130832996	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:130832996C>T	uc010fmh.2	-	16	2449	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	683						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCTTTTTTTCACACTTTCAA	0.413000														25			9		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30831043	30831043	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:30831043C>T	uc003tbt.3	+	4	1003	c.926C>T	c.(925-927)cCc>cTc	p.P309L	FAM188B_uc010kwe.3_Missense_Mutation_p.P280L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	309								p.P309S(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGAGGGATCCCTCCGAGGAC	0.617000														58			11		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51352508	51352508	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:51352508C>T	uc011bds.2	+	31	3374	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1117						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATTCCCATCTTTCATGACA	0.463000														34			9		0	0	1	0	0
SNX16	64089	broad.mit.edu	37	8	82752065	82752065	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:82752065T>C	uc003ycn.3	-	1	418	c.157A>G	c.(157-159)Aaa>Gaa	p.K53E	SNX16_uc003yco.3_Missense_Mutation_p.K53E|SNX16_uc011lft.2_Missense_Mutation_p.K53E	NM_152836	NP_690049	P57768	SNX16_HUMAN	Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.	53					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CTTGTCTGTTTAAAATTACCC	0.368000														71			9		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66053984	66053984	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:66053984C>T	uc011dxu.1	-	9	2084	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	EYS_uc003peq.3_Missense_Mutation_p.D516N|EYS_uc003per.1_Missense_Mutation_p.D516N|EYS_uc021zbn.1_Missense_Mutation_p.D516N	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	516					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTCAGGATCGTTCACATAG	0.373000														65			4		0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69456258	69456258	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:69456258C>T	uc001opa.3	+	0	386	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_053056	NP_444284	P24385	CCND1_HUMAN	Homo sapiens cyclin D1 (CCND1), mRNA.	59	Cyclin N-terminal.				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)	TGCGGAAGATCGTCGCCACCT	0.622000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)				70			9		0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421922	153421922	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:153421922C>T	uc004fjz.4	+	4	931	c.898C>T	c.(898-900)Cac>Tac	p.H300Y		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	300					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTACGCCTTCCACCCTTTGAT	0.542000														182			47		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598689	151598689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151598689C>T	uc003ezf.2	+	2	463	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	120						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CAGCATAGATCGATACTTGAT	0.383000														48			26		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133948072	133948072	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:133948072C>T	uc004caa.1	+	18	3365	c.3267C>T	c.(3265-3267)gcC>gcT	p.A1089A		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1089	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTCAAGGCCGCCCGGGAGC	0.652000														17			4		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96104197	96104197	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:96104197G>A	uc001pfx.4	-	6	1403	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	CCDC82_uc009ywp.3_Missense_Mutation_p.R397C|CCDC82_uc009ywr.3_Missense_Mutation_p.R397C	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	397							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCTTTCCAACGACTTCTAGAT	0.398000														53			11		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437808	125437808	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125437808A>C	uc011lzb.2	+	0	400	c.400A>C	c.(400-402)Act>Cct	p.T134P		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CCATTATGTCACTGTTATGAA	0.458000														148			14		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98002504	98002504	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:98002504C>T	uc001kls.4	-	2	328	c.150G>A	c.(148-150)agG>agA	p.R50R	BLNK_uc001kme.4_Intron|BLNK_uc001klt.4_Intron|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Intron|BLNK_uc001klv.4_Silent_p.R50R|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Silent_p.R50R|BLNK_uc001kly.4_Silent_p.R50R|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Silent_p.R50R|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Intron|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	50					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AAGCGTAGTCCCTTCGAGGAA	0.398000														59			17		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990861	47990861	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:47990861G>A	uc002xur.1	-	1	1402	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	KCNB1_uc002xus.1_Silent_p.I412I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	412					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTTATTGACGATGATGGGGA	0.512000														87			4		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144816504	144816504	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:144816504C>T	uc009wig.1	+	11	1599	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S	NBPF10_uc010oxo.1_Missense_Mutation_p.P471S|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.P200S|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.P131S	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	471										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAGGAAGTCCCTGAGGACTC	0.483000														221			11		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579085	44579085	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:44579085C>T	uc003tlb.3	-	1	967	c.911G>A	c.(910-912)gGa>gAa	p.G304E	NPC1L1_uc011kbw.2_Missense_Mutation_p.G304E|NPC1L1_uc003tlc.3_Missense_Mutation_p.G304E|NPC1L1_uc003tld.3_Missense_Mutation_p.G304E	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	304					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CACACGGAATCCCACAAGCAG	0.602000														109			5		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526066	7526066	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7526066G>A	uc010sge.2	-	13	3636	c.3610C>T	c.(3610-3612)Ctc>Ttc	p.L1204F	CD163L1_uc001qsy.3_Missense_Mutation_p.L1194F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1194	SRCR 11.					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						AAAGGGGCGAGGCTGACAACT	0.557000														96			6		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97956793	97956793	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:97956793G>A	uc001kls.4	-	15	1300	c.1122C>T	c.(1120-1122)agC>agT	p.S374S	BLNK_uc001kme.4_Silent_p.S269S|BLNK_uc001klt.4_Silent_p.S265S|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Intron|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Silent_p.S351S|BLNK_uc001kly.4_Intron|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Intron|BLNK_uc001kmb.4_Silent_p.S170S|BLNK_uc001kmc.4_Intron|BLNK_uc001kmd.4_Silent_p.S292S|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	374	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CATGGCCAGAGCTTTTCCGAA	0.274000														47			6		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289639	98289639	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:98289639G>A	uc003yhy.3	-	0	538	c.434C>T	c.(433-435)gCc>gTc	p.A145V		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	145					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CTTCTTCCCGGCAGGGCCACG	0.662000														69			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472290	179472290	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179472290C>T	uc021vsy.1	-	225	45646	c.45421G>A	c.(45421-45423)Gaa>Aaa	p.E15141K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8836K|TTN_uc021vta.1_Missense_Mutation_p.E8769K|TTN_uc021vtb.1_Missense_Mutation_p.E8644K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16068	Fibronectin type-III 10.						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)			TCCCCTTCTTCTTTGGTCCAT	0.438000														345			24		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606700	55606700	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55606700C>T	uc010rio.2	+	0	473	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S158F(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTCGCATGTTCCCTGACACTC	0.448000														51			4		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368779	18368779	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18368779G>A	uc010ebn.2	-	3	3531	c.3315C>T	c.(3313-3315)tcC>tcT	p.S1105S	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Silent_p.S918S|KIAA1683_uc010xqe.1_Silent_p.S872S|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	1113						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCCTGCATGGACACCATTG	0.692000														107			23		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591657	70591657	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:70591657G>A	uc003xyl.3	-	7	2687	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	SLCO5A1_uc010lzb.3_Silent_p.F605F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F660F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	660						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGCTGTGATGAAGGTGACTA	0.423000														101			9		0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085145	35085145	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:35085145G>A	uc002nvn.3	-	1	203	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	Homo sapiens secretoglobin, family 2B, member 2 (SCGB2B2), mRNA.	61						extracellular region	binding										TGGACATTGAGGAAGGACTCC	0.502000														96			8		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938637	2938637	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:2938637G>A	uc001ajz.3	+	0	592	c.387G>A	c.(385-387)gaG>gaA	p.E129E		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	129						cytoplasm|cytoskeleton		p.F128L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCATGTTCGAGAACTTCGGCG	0.642000														36			13		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903390	6903390	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:6903390C>T	uc003bqm.2	+	0	589	c.315C>T	c.(313-315)atC>atT	p.I105I	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.I105I|GRM7_uc003bql.2_Silent_p.I105I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	105					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCGCGCGGATCCTGGACACTT	0.602000														26			6		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25747200	25747200	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:25747200G>A	uc001bkf.3	-	0	164	c.78C>T	c.(76-78)ctC>ctT	p.L26L	RHCE_uc001bkg.3_Silent_p.L26L|RHCE_uc001bkh.3_Silent_p.L26L|RHCE_uc001bki.3_Silent_p.L26L|RHCE_uc001bkj.3_Intron	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	26						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGAAGAGGAGAATGAGAG	0.542000														107			10		0	0	1	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32549415	32549415	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32549415C>T	uc003obp.4	-	2	665	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Missense_Mutation_p.E21K|HLA-DRB5_uc011dqc.1_Missense_Mutation_p.E21K	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	191	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGAACTGTTTCCAGCATCACC	0.552000														177			5		0	0	1	0	0
MEX3C	51320	broad.mit.edu	37	18	48703595	48703595	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:48703595G>A	uc002lfc.4	-	1	1467	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	369	KH 2.					cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TTCAAAGACAGGTTCCTTATC	0.443000														92			15		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347079	48347079	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48347079C>T	uc010rhv.2	+	0	587	c.587C>T	c.(586-588)cCc>cTc	p.P196L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P196S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCTGTGGGCCCAATGTGATC	0.532000														84			7		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66941750	66941750	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:66941750C>T	uc004dwu.2	+	5	3509	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.L266L	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	797	Interaction with MYST2.|Ligand-binding.		Q -> E (in PAIS, AIS and prostate cancer; reduced transcription activation).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGGATGGCTCCAAATCACCC	0.527000									Androgen Insensitivity Syndrome					43			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431205	179431205	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179431205T>A	uc021vsy.1	-	274	72175	c.71950A>T	c.(71950-71952)Aaa>Taa	p.K23984*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.K17679*|TTN_uc021vta.1_Nonsense_Mutation_p.K17612*|TTN_uc021vtb.1_Nonsense_Mutation_p.K17487*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24911	Fibronectin type-III 74.						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)			TCAGTGAGTTTTGAAATTTCA	0.408000														140			9		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188430	152188430	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152188430C>T	uc001ezt.1	-	2	5751	c.5675G>A	c.(5674-5676)gGt>gAt	p.G1892D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1892					keratinization		calcium ion binding|protein binding	p.G1892C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGAGTGACCTGAGCCAGA	0.537000														586			42		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21415020	21415020	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:21415020C>T	uc001iqm.3	-	1	251	c.200G>A	c.(199-201)gGc>gAc	p.G67D	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.A79T	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	67										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AGGCCTCAGGCCCTTCTCGGC	0.562000														52			9		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79966339	79966339	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:79966339C>T	uc004akr.3	+	52	7656	c.7396C>T	c.(7396-7398)Cat>Tat	p.H2466Y	VPS13A_uc004akp.4_Missense_Mutation_p.H2466Y|VPS13A_uc004akq.4_Missense_Mutation_p.H2466Y|VPS13A_uc004aks.3_Missense_Mutation_p.H2427Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2466					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGAAAAAGCCATGGTGAAGT	0.473000														79			23		0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278655	94278656	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:94278655_94278656CC>TT	uc001pez.3	+	0	1639_1640	c.1356_1357CC>TT	c.(1354-1359)ccccgc>ccTTgc	p.R453C	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	453					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTTGTGCCCCGCGGCGCCTT	0.644000														68			5		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357222	38357222	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:38357222C>T	uc010abx.3	-	1	484	c.249G>A	c.(247-249)ttG>ttA	p.L83L	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.L83L|TRPC4_uc001uws.3_Silent_p.L83L|TRPC4_uc010tey.2_Silent_p.L83L|TRPC4_uc010abw.3_Silent_p.L83L|TRPC4_uc010aby.3_Silent_p.L83L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	83					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)		Cgatgagctccaagttctcat	0.368000														36			3		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					60			16		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883439	228883439	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228883439G>A	uc002vpq.2	-	6	2178	c.2131C>T	c.(2131-2133)Caa>Taa	p.Q711*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.Q711*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.Q711*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	711						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAAAGCAGTTGATTTGTACTT	0.398000														141			12		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137026271	137026271	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:137026271C>T	uc003qhc.3	-	3	950	c.589_splice	c.e3-1	p.E197_splice	MAP3K5_uc011edk.1_Splice_Site_p.E42_splice|MAP3K5_uc010kgw.1_Splice_Site_p.E197_splice	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	197					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CAAATTATTTCCTGAAAAACA	0.234000														30			5		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896790	175896790	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:175896790G>A	uc003iuc.3	+	4	784	c.114G>A	c.(112-114)agG>agA	p.R38R	ADAM29_uc003iud.3_Silent_p.R38R|ADAM29_uc010irr.3_Silent_p.R38R|ADAM29_uc011cki.2_Silent_p.R38R|ADAM29_uc021xuo.1_Silent_p.R38R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	38					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)		TTCCTGTGAGGATAACTGGCA	0.532000														37			10		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541067	40541067	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:40541067G>A	uc002omu.3	-	4	1764	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	ZNF780B_uc002omv.3_Missense_Mutation_p.R419C	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAACCACGACGAAAGAATTTC	0.398000														108			4		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147560390	147560390	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:147560390A>G	uc003qlz.3	+	3	590	c.415A>G	c.(415-417)Aaa>Gaa	p.K139E	STXBP5_uc010khz.2_Missense_Mutation_p.K139E|STXBP5_uc003qly.3_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	139					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACATTCGCTTAAATTTTGCAG	0.353000														49			5		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149885088	149885088	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:149885088G>A	uc001etg.3	-	1	796	c.305C>T	c.(304-306)cCc>cTc	p.P102L	SV2A_uc001eth.2_Missense_Mutation_p.P102L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	102					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTCTGCCCGGGGAATGCCCTG	0.627000														149			29		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98182455	98182455	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:98182455C>T	uc001kml.2	-	5	909	c.668G>A	c.(667-669)gGa>gAa	p.G223E	TLL2_uc009xvf.2_Missense_Mutation_p.G171E	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	223	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTGTGGGCCTCCTCCTCGGCG	0.562000														62			7		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600878	141600878	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:141600878G>A	uc010ioj.3	-	3	752	c.480C>T	c.(478-480)ctC>ctT	p.L160L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	160	GRAM 1.					intracellular	Rab GTPase activator activity|calcium ion binding	p.L160L(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATAGTTGACGAGTTTCTCTT	0.418000														31			6		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556598	52556598	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:52556598G>A	uc002lfr.3	+	5	854	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	204					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GGAAATTCTGGAAACTTGGAT	0.393000														47			5		0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34266253	34266253	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:34266253C>T	uc002hkj.2	-	0	308	c.108G>A	c.(106-108)ttG>ttA	p.L36L	LYZL6_uc002hkk.2_Silent_p.L36L	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	36					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAACCCATCCAAGTCCTCCA	0.542000														55			17		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135480119	135480119	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135480119C>T	uc004ezu.1	+	19	8555	c.8264C>T	c.(8263-8265)tCc>tTc	p.S2755F	GPR112_uc010nsb.1_Missense_Mutation_p.S2550F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2755					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)					GGAATCTCCTCCATTTTTCTG	0.398000														44			14		0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40726603	40726603	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:40726603G>A	uc001cfg.3	+	1	427	c.216G>A	c.(214-216)ctG>ctA	p.L72L		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	72						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTATCAACTGGATAAAAGCA	0.393000														97			30		0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120965527	120965527	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:120965527T>A	uc003vjv.3	+	0	107	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_016087	NP_057171	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 2, mRNA.	0					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TCAAAAGACCTCCCTATGGTG	0.453000														60			14		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867868	45867868	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:45867868G>A	uc010zxy.1	-	14	2402	c.2320C>T	c.(2320-2322)Cca>Tca	p.P774S	ZMYND8_uc010ghq.1_Missense_Mutation_p.P424S|ZMYND8_uc010ghr.1_Missense_Mutation_p.P722S|ZMYND8_uc002xst.1_Missense_Mutation_p.P675S|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Missense_Mutation_p.P675S|ZMYND8_uc002xsw.1_Missense_Mutation_p.P499S|ZMYND8_uc002xsx.1_Missense_Mutation_p.P499S|ZMYND8_uc002xsy.1_Missense_Mutation_p.P722S|ZMYND8_uc002xsz.1_Missense_Mutation_p.P684S|ZMYND8_uc002xta.1_Missense_Mutation_p.P747S|ZMYND8_uc002xtb.1_Missense_Mutation_p.P767S|ZMYND8_uc002xss.2_Missense_Mutation_p.P747S|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.P767S|ZMYND8_uc002xtd.1_Missense_Mutation_p.P742S|ZMYND8_uc002xte.1_Missense_Mutation_p.P747S|ZMYND8_uc010zya.1_Missense_Mutation_p.P747S|ZMYND8_uc002xtf.1_Missense_Mutation_p.P767S|ZMYND8_uc002xtg.3_Missense_Mutation_p.P741S|ZMYND8_uc010ghs.2_Missense_Mutation_p.P741S|ZMYND8_uc002xsr.1_5'UTR	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	747							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGGATGGTGGAGTTTTACCT	0.562000														128			15		0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866079	140866079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140866079C>T	uc003ett.3	+	2	1035	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	SPSB4_uc010hum.3_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	264	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCCCTGCCTCAGTCTCTCAA	0.632000														44			11		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1914070	1914070	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:1914070C>T	uc002qxe.3	-	12	2586	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	MYT1L_uc002qxd.3_Missense_Mutation_p.E585K|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	587					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGTGCTTTTCCTGTGCCTTG	0.592000														47			5		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56410268	56410268	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56410268C>T	uc010ygg.2	-	9	2850	c.2825G>A	c.(2824-2826)gGa>gAa	p.G942E		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	942							ATP binding	p.G942E(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)		AGCCAGCTCTCCACAGCCCTC	0.433000														79			7		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973377	29973377	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:29973377G>A	uc004dby.2	+	10	2039	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	511	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GATTCTAATTGAATGCAGTGA	0.448000														31			19		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76797105	76797105	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:76797105T>A	uc003uga.3	+	1	247	c.120T>A	c.(118-120)gaT>gaA	p.D40E	CCDC146_uc003ufz.1_Missense_Mutation_p.D40E	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	40										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGTTTGTTGATTTATCTGAAA	0.338000														51			7		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62299369	62299369	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:62299369G>A	uc001dab.3	+	16	2138	c.2024G>A	c.(2023-2025)gGg>gAg	p.G675E	INADL_uc009waf.1_Missense_Mutation_p.G675E|INADL_uc001daa.2_Missense_Mutation_p.G675E|INADL_uc001dad.3_Missense_Mutation_p.G372E|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	675					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGATGATGGGGAATTAGCA	0.363000														56			4		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378355	62378355	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62378355C>T	uc002ygv.2	-	4	1899	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTTCCTCATCCTTGTCGTCCG	0.716000														47			9		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54794676	54794676	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54794676C>A	uc001sga.3	-	24	2665	c.2597G>T	c.(2596-2598)gGa>gTa	p.G866V		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	866					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GCAGTTGAGTCCCGTAACTCT	0.562000														16			5		0.184627	0.184745	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20215589	20215589	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20215589G>A	uc010tkt.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGCTTGATGAAAAAAGAAC	0.308000														99			5		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31301876	31301876	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:31301876G>A	uc003aiy.1	+	12	2532	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	OSBP2_uc011ala.1_Missense_Mutation_p.E644K|OSBP2_uc010gwc.1_Missense_Mutation_p.E637K|OSBP2_uc011alb.1_Missense_Mutation_p.E761K|OSBP2_uc003aiz.1_Missense_Mutation_p.E809K|OSBP2_uc003aja.1_Missense_Mutation_p.E443K|OSBP2_uc011alc.2_Missense_Mutation_p.E552K|OSBP2_uc011ald.1_Missense_Mutation_p.E354K|OSBP2_uc010gwd.1_Missense_Mutation_p.R293Q	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	810					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GACCCTCAACGAGCACGAGGA	0.672000														39			4		0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56171939	56171939	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56171939C>T	uc002qlu.3	+	3	1343	c.288C>T	c.(286-288)ccC>ccT	p.P96P	U2AF2_uc002qlt.3_Silent_p.P96P	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	96					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ACGTGCCACCCCCAGGCTTTG	0.632000														63			5		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48149449	48149449	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48149449C>T	uc010dbm.3	+	6	1523	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ITGA3_uc010dbl.3_Silent_p.F353F	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	353					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAACCTCCTTCCCTGCTCACC	0.567000														59			17		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768116	88768116	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88768116C>T	uc001kee.2	+	11	1311	c.107C>T	c.(106-108)tCc>tTc	p.S36F	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ACACAGTTTTCCACCGTGCAC	0.418000														62			8		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408071	107408071	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107408071C>T	uc003ver.2	-	19	2435	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	SLC26A3_uc003ves.2_Missense_Mutation_p.D629N	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	742					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGGTAAAATCAATTTTTCCA	0.323000														17			4		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74414461	74414461	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74414461G>A	uc001ovh.3	-	7	1088	c.835C>T	c.(835-837)Cta>Tta	p.L279L	CHRDL2_uc001ovg.3_Silent_p.L163L|CHRDL2_uc001ovi.3_Silent_p.L279L|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	279	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGGTGCATAGGATGCAGGGC	0.642000														35			3		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110222993	110222993	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:110222993C>T	uc021xqo.1	-	0	239	c.183G>A	c.(181-183)gcG>gcA	p.A61A	COL25A1_uc003hze.1_Silent_p.A61A|COL25A1_uc021xqp.1_Silent_p.A61A|COL25A1_uc003hzg.3_Silent_p.A61A|COL25A1_uc003hzh.1_Silent_p.A61A	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	61						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGGCGATCCTCGCCTGGAGGT	0.617000														94			15		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088883	86088883	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:86088883C>T	uc021rxf.1	+	0	1025	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	FLRT2_uc001xvr.3_Missense_Mutation_p.P342L|FLRT2_uc010atd.3_Missense_Mutation_p.P342L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	342	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGCCAAGGTCCTGAACAAGTC	0.507000														141			29		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52265293	52265293	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:52265293G>A	uc002lfq.1	+	2	596	c.550G>A	c.(550-552)Gcc>Acc	p.A184T		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	184	Thr-rich.					integral to membrane		p.A184S(2)		endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGCAAGTACAGCCACTGAATC	0.463000														94			9		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31885376	31885376	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31885376C>T	uc002wyw.1	+	6	804	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	BPIFB1_uc010gej.1_Missense_Mutation_p.L215F	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	215						extracellular space	lipid binding										GTATGCAGACCTCCTGCAGCT	0.582000														95			8		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30516712	30516712	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:30516712C>T	uc002dyi.4	+	19	2471	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	ITGAL_uc002dyj.4_Silent_p.I681I|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	765					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGTTTCAGATCCCTTTTGAGA	0.542000														146			22		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2908511	2908511	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:2908511G>A	uc003bpc.3	+	7	869	c.530G>A	c.(529-531)gGg>gAg	p.G177E	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.G177E|CNTN4_uc003bpd.1_Missense_Mutation_p.G177E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	177	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P176T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAGAGACTGGGAATCTGTAT	0.418000														65			12		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371038	33371038	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:33371038C>T	uc002yph.3	+	10	2046	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	562					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGCGCTCCTTCGAGTCTGTGG	0.592000														51			9		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275210	29275210	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29275210C>T	uc011dln.2	+	0	744	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TAGCCACCTTCTTTCTTTCAG	0.488000														177			6		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118487697	118487697	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:118487697C>T	uc010jcl.1	+	18	4849	c.4668C>T	c.(4666-4668)tcC>tcT	p.S1556S	DMXL1_uc003ksd.2_Silent_p.S1556S|DMXL1_uc021ycw.1_Silent_p.S1383S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1556										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTACAACTTCCCTTCCAGCCT	0.408000														82			10		0	0	1	0	0
PSCA	8000	broad.mit.edu	37	8	143763496	143763496	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:143763496C>T	uc022bcd.1	+	2	527	c.104C>T	c.(103-105)tCc>tTc	p.S35F	AX747544_uc022bce.1_5'Flank|PSCA_uc003ywu.3_Silent_p.I97I			D3DWI6	D3DWI6_HUMAN	Homo sapiens prostate stem cell antigen (PSCA), transcript variant 2, non-coding RNA.	0										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGCTGCCATCCTTGCGCTGC	0.672000														35			4		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318800	23318800	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:23318800G>A	uc002nrb.1	+	2		c.380G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GCAAGAAAAAGAGCCTTGGAA	0.368000														82			8		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771400	37771400	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:37771400C>T	uc003asq.4	-	2	961	c.175G>A	c.(175-177)Gac>Aac	p.D59N	ELFN2_uc021wph.1_Missense_Mutation_p.D59N	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	59						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGCCGCAGGTCGTGCACGGTG	0.592000														29			7		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41815067	41815067	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:41815067G>A	uc001zod.3	-	18	2762	c.2638C>T	c.(2638-2640)Ccc>Tcc	p.P880S		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	880	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGAGACGGGGGCAGCCTCCC	0.632000														42			4		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123517019	123517019	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123517019G>A	uc003vlc.3	+	4	1894	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	419					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACTGTGAAAGGAAAAGCATCT	0.468000														118			12		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247294	164247294	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:164247294C>T	uc003iqm.2	-	1	878	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	NPY1R_uc021xtv.1_Missense_Mutation_p.R138Q|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	138					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGCTGATGTCGTTCCACAGC	0.443000														61			16		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921159	24921159	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:24921159G>A	uc001ywo.3	+	0	619	c.145G>A	c.(145-147)Ggc>Agc	p.G49S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	49					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCTTTCCGCGGCCTGTTCCG	0.756000														44			5		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932986	44932986	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44932986C>T	uc002oze.1	-	5	2404	c.1970G>A	c.(1969-1971)aGa>aAa	p.R657K	ZNF229_uc010ejk.1_Missense_Mutation_p.R311K|ZNF229_uc010ejl.1_Missense_Mutation_p.R651K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	657					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)				CTCTTGGCATCTGTAAGGTTT	0.502000														136			25		0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110098156	110098156	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:110098156C>T	uc003ptt.2	+	15	1997	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	FIG4_uc011eau.1_Silent_p.F317F	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	594					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTAATCTCTTCCTGGGAGTTT	0.353000														36			6		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950179	7950179	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:7950179C>T	uc010rbh.2	-	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATGAATTCAACCACACAG	0.408000														60			11		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18823030	18823030	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18823030G>A	uc001ipr.2	+	10	1140	c.1080G>A	c.(1078-1080)agG>agA	p.R360R	CACNB2_uc001ipt.2_Silent_p.R322R|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Silent_p.R336R|CACNB2_uc001ipu.3_Silent_p.R332R|CACNB2_uc001ipv.3_Silent_p.R308R|CACNB2_uc009xka.2_Silent_p.R294R|CACNB2_uc001ipw.2_Silent_p.R267R|CACNB2_uc001ipx.2_Silent_p.R305R|CACNB2_uc001ipz.2_Silent_p.R282R|CACNB2_uc001ipy.2_Silent_p.R306R|CACNB2_uc010qco.1_Silent_p.R274R|CACNB2_uc001iqa.2_Silent_p.R312R|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	360					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAATCGAAAGGATTTTTGAAC	0.383000														46			12		0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7891483	7891483	+	Splice_Site	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:7891483A>G	uc003jed.3	+	10	1439	c.1409_splice	c.e10-2	p.E470_splice	MTRR_uc003jee.4_Splice_Site_p.E443_splice|MTRR_uc003jef.4_Splice_Site|MTRR_uc003jeg.4_Splice_Site|MTRR_uc010ito.3_Splice_Site	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	470	FAD-binding FR-type.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATTTTTTTCTAGAACATCTTC	0.264000														29			12		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87726097	87726097	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:87726097G>A	uc003pli.3	+	1	1748	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	HTR1E_uc021zcg.1_Missense_Mutation_p.E349K	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	349					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.E349K(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GAGTTTTAATGAAGACTTTAA	0.443000														91			9		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70423284	70423284	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:70423284C>T	uc002lkw.3	-	7	1251	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	NETO1_uc002lky.2_Missense_Mutation_p.E323K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	323	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGTGATTTTCATCCCAAGGA	0.378000														60			7		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175538	207175538	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:207175538G>A	uc002vbp.2	+	4	6536	c.6286G>A	c.(6286-6288)Gat>Aat	p.D2096N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2096							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAGATAATGATGCTGATGG	0.443000														74			4		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510497	101510497	+	Nonsense_Mutation	SNP	C	T	T	rs145182702		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:101510497C>T	uc010svm.1	+	24	3063	c.2491C>T	c.(2491-2493)Cga>Tga	p.R831*	ANO4_uc001thw.2_Nonsense_Mutation_p.R796*|ANO4_uc001thx.2_Nonsense_Mutation_p.R831*|ANO4_uc001thy.2_Nonsense_Mutation_p.R351*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	831						chloride channel complex	chloride channel activity	p.R796*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTCTGTATTTCGAATTTCTGA	0.483000										HNSCC(74;0.22)				164			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577515	179577515	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179577515G>A	uc021vsy.1	-	90	23730	c.23505C>T	c.(23503-23505)ttC>ttT	p.F7835F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4496F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8762	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)			TATCTACATCGAACAACTCCA	0.423000														30			15		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053071	50053071	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:50053071C>T	uc004dox.4	+	5	2200	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	CCNB3_uc004doy.3_Silent_p.F634F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	634					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGAAAAGTTCCTCTCCCAGG	0.453000														14			6		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466546	56466546	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56466546G>A	uc002qmh.3	+	2	1193	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	NLRP8_uc010etg.3_Silent_p.E374E	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	374	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACACACAGAGGAGGGAGACC	0.483000														78			17		0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16613961	16613961	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:16613961C>T	uc002neh.1	+	2	918	c.845C>T	c.(844-846)tCc>tTc	p.S282F	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S282F|C19orf44_uc002neg.3_Missense_Mutation_p.S282F|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	282										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTGCCAACCTCCCTGGCAGCA	0.542000														54			13		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390392	197390392	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197390392C>T	uc001gtz.3	+	5	1643	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	CRB1_uc010poz.2_Silent_p.S409S|CRB1_uc009wza.3_Silent_p.S366S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.S478S|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Silent_p.S127S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	478	EGF-like 11.				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						ACACCGGGTCCCTGTGTGAAA	0.502000														28			13		0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49398326	49398326	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49398326G>A	uc002pkz.2	-	5	594	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	148					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGGAGAGACGGAACCATTCTC	0.527000														39			10		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134117	27134117	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:27134117G>A	uc003sye.3	-	1	1044	c.950C>T	c.(949-951)tCg>tTg	p.S317L	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	317	Poly-Ser.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACGCAGGGCGAAGAGCTGGA	0.607000														64			5		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131921963	131921963	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:131921963C>T	uc003ytd.4	-	5	1887	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E	ADCY8_uc010mds.3_Missense_Mutation_p.G544E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	544					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAGGGATTCCTCCAGATTC	0.463000										HNSCC(32;0.087)				129			6		0	0	1	0	0
PERP	64065	broad.mit.edu	37	6	138413251	138413251	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:138413251G>A	uc003qht.2	-	2	693	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	Homo sapiens PERP, TP53 apoptosis effector (PERP), mRNA.	170					apoptosis|cell adhesion	Golgi apparatus|desmosome|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		GGAGGCAGCAGAAGAAGAAGG	0.517000														34			4		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057147	72057147	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:72057147G>A	uc001swo.2	-	0	603	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	ZFC3H1_uc010sts.2_Nonsense_Mutation_p.Q82*|ZFC3H1_uc001swp.3_Nonsense_Mutation_p.Q82*|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	82	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCCTCAGCTGCTGCTGAGAA	0.662000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			17		0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:41962602G>T	uc004aca.4	-	2		c.907C>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373000														21			6		1.12685e-05	1.13532e-05	1	1	0
OR7G2	390882	broad.mit.edu	37	19	9213059	9213059	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9213059G>A	uc010xkk.2	-	0	924	c.924C>T	c.(922-924)ccC>ccT	p.P308P		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N307K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TATAGATAAAGGGGTTCACCA	0.448000														77			10		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56313004	56313004	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56313004G>A	uc010ygf.2	-	6	2816	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	NLRP11_uc002qlz.3_Missense_Mutation_p.S549F|NLRP11_uc002qmb.3_Missense_Mutation_p.S603F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	702							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATTTAGGGAAATGGACGT	0.463000														121			5		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024407	76024407	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76024407C>T	uc010kbe.3	-	5	1680	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	FILIP1_uc003phy.1_Missense_Mutation_p.E381K|FILIP1_uc003phz.3_Missense_Mutation_p.E282K|FILIP1_uc003pia.3_Missense_Mutation_p.E381K|FILIP1_uc003pib.1_Missense_Mutation_p.E133K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	381								p.R384Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CGAAGATTTTCCACTTCTGCC	0.418000														113			14		0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77895753	77895753	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77895753G>A	uc022awg.1	-	0	662	c.662C>T	c.(661-663)tCt>tTt	p.S221F	PEX2_uc003yax.3_Missense_Mutation_p.S221F|PEX2_uc003yay.3_Missense_Mutation_p.S221F|PEX2_uc022awe.1_Missense_Mutation_p.S221F|PEX2_uc022awf.1_Missense_Mutation_p.S221F	NM_001172087	NP_001165558	P28328	PEX2_HUMAN	Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA.	221					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACACCATGAAGACAGCTTGGC	0.428000														79			11		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451468	38451468	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38451468G>A	uc003jlc.2	+	19	2965	c.2619G>A	c.(2617-2619)aaG>aaA	p.K873K	EGFLAM_uc003jlb.2_Silent_p.K865K|EGFLAM_uc003jle.2_Silent_p.K631K|EGFLAM_uc003jlf.2_Silent_p.K231K|EGFLAM_uc003jlg.2_Silent_p.K8K	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	873	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAACTGCCAAGGATGGCCTTT	0.498000														145			8		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409221	28409221	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:28409221C>T	uc001iua.1	-	11	1193	c.789G>A	c.(787-789)caG>caA	p.Q263Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.Q263Q|MPP7_uc009xla.2_Silent_p.Q263Q|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	263	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GGCTCATAATCTGAAGAATAT	0.443000														77			10		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90079082	90079082	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:90079082C>T	uc003kju.3	+	65	13469	c.13373C>T	c.(13372-13374)aCc>aTc	p.T4458I	GPR98_uc003kjt.3_Missense_Mutation_p.T2164I|GPR98_uc003kjw.3_Missense_Mutation_p.T119I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4458	Calx-beta 30.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTACAGTCACCTTTCAGCAT	0.393000														61			7		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95201506	95201506	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:95201506C>T	uc003ygh.2	-	2	184	c.59G>A	c.(58-60)gGa>gAa	p.G20E	CDH17_uc011lgo.1_Missense_Mutation_p.G20E|CDH17_uc011lgp.1_Missense_Mutation_p.G20E	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	20						integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGGCCATATCCAGTTGCCTG	0.383000														44			6		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805148	54805148	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54805148A>C	uc003pck.3	+	4	1495	c.1379A>C	c.(1378-1380)aAt>aCt	p.N460T		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	460										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCAGACAGGAATTCAAATGTT	0.453000														66			21		0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932279	23932279	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:23932279G>A	uc001ywk.3	-	0	172	c.86C>T	c.(85-87)tCg>tTg	p.S29L		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	29					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AACCCCCTCCGAAACCCCAGG	0.687000									Prader-Willi syndrome					22			4		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447229	43447229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:43447229C>T	uc003tid.1	+	7	1305	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	HECW1_uc011kbi.1_Nonsense_Mutation_p.Q234*|HECW1_uc003tie.1_Nonsense_Mutation_p.Q266*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	234	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.K233M(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GATTTCCATTCAGCCTGGGAA	0.458000														28			7		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844733	92844733	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92844733G>A	uc011khy.2	-	3	788	c.765C>T	c.(763-765)atC>atT	p.I255I	HEPACAM2_uc003uml.3_Silent_p.I220I|HEPACAM2_uc010lff.3_Silent_p.I220I|HEPACAM2_uc003umm.3_Silent_p.I232I	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	232	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGGGCATAATGATATCACTTT	0.363000														43			23		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47590131	47590131	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:47590131G>A	uc002ioz.4	+	5	1169	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	348	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					AGGAGGTGGAGAAGCTTCTCA	0.652000														102			11		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75899295	75899295	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:75899295G>A	uc021zbv.1	-	4	666	c.631C>T	c.(631-633)Cca>Tca	p.P211S	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.P211S|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	211	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCTTTATATGGAATTTTTTTT	0.323000														96			6		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88421072	88421072	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88421072G>A	uc010qmk.1	+	7	1260	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	OPN4_uc001kdp.3_Missense_Mutation_p.V345M|OPN4_uc001kdq.3_Missense_Mutation_p.V334M|OPN4_uc009xsx.1_Missense_Mutation_p.V4M	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	334					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CATGAGCTCGGTGCCAGCCGT	0.582000														75			4		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783475	54783475	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54783475G>A	uc002qfb.3	-	4	649	c.383C>T	c.(382-384)gCc>gTc	p.A128V	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.A128V|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.A128V|LILRB2_uc010yet.2_Missense_Mutation_p.A12V|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	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.	128	Ig-like C2-type 2.				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)		GCTGGGCTGGGCTGAGAGGGT	0.587000														107			20		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403937	54403937	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54403937G>A	uc002qcq.1	+	13	1791	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	PRKCG_uc010yeg.1_Silent_p.K503K|PRKCG_uc010yeh.1_Silent_p.K390K	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	503	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCATGTGTAAGGAGAACGTCT	0.592000														298			56		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338859	19338859	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19338859C>T	uc002nlz.3	+	7	2529	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	NCAN_uc010ecc.1_Silent_p.V374V	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	810					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)			TACCCAAAGTCACCCCAAATT	0.572000														67			7		0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327045	30327045	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:30327045G>A	uc004dcf.4	-	0	451	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	146	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	AAGCTGTAGAGGATGCTGCCC	0.692000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			4		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18646617	18646617	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:18646617C>T	uc004cym.3	+	17	2876	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	CDKL5_uc004cyn.3_Missense_Mutation_p.R875W|CDKL5_uc022btn.1_Missense_Mutation_p.R866W	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	875					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity	p.R875W(2)|p.R875Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTCAGAAATTCGGATTCACCC	0.577000														82			33		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296284	20296284	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20296284G>A	uc010tkv.2	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	226					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)		TGTCGCATACGAGGGTCTTCT	0.478000														194			9		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3778535	3778535	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3778535G>A	uc002lyt.3	-	12	1656	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	MATK_uc002lyv.3_Missense_Mutation_p.S420L|MATK_uc002lyu.3_Missense_Mutation_p.S378L|MATK_uc010dtq.3_Missense_Mutation_p.S418L	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	419	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.F418L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCCATATGAGAAGACCTC	0.642000														18			4		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11014171	11014171	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:11014171C>T	uc010oao.2	-	9	1004	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	C1orf127_uc001ars.2_Missense_Mutation_p.G196E|C1orf127_uc001arr.2_Missense_Mutation_p.G178E	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	186								p.G168E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGCTTGTGTTCCCGGGGTTCC	0.567000														134			11		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23321935	23321935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:23321935C>T	uc001irm.4	+	17	2475	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	ARMC3_uc010qcv.2_Nonsense_Mutation_p.R791*|ARMC3_uc010qcw.2_Nonsense_Mutation_p.R535*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	798							binding	p.R798*(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTCTACCATCGAGCTTTGCT	0.363000														44			4		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603106	140603106	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140603106G>A	uc003ljb.3	+	0	29	c.29G>A	c.(28-30)cGa>cAa	p.R10Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	10					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGATCTGCGAAAAAGGCAA	0.453000														41			12		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121743988	121743988	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:121743988G>A	uc010flp.3	+	11	2121	c.2091G>A	c.(2089-2091)ctG>ctA	p.L697L	GLI2_uc002tmq.1_Silent_p.L369L|GLI2_uc002tmr.1_Silent_p.L352L|GLI2_uc002tmt.4_Silent_p.L369L|GLI2_uc002tmu.4_Silent_p.L352L|GLI2_uc002tmw.1_Silent_p.L680L	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	697					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGACGGCACTGGATGACACAC	0.692000														36			5		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92568084	92568084	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:92568084G>A	uc001doo.3	+	2	669	c.402G>A	c.(400-402)agG>agA	p.R134R	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	134						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AAATTCTTAGGAAAAAGATAA	0.279000														45			8		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881963	228881963	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228881963C>T	uc002vpq.2	-	6	3654	c.3607G>A	c.(3607-3609)Gaa>Aaa	p.E1203K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1203K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1203K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1203						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTCTCTTTCGATGTCCCTC	0.562000														77			8		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528839	20528839	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20528839C>T	uc001vwn.1	+	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCTGTTTCATCCTCTTGCTTG	0.458000														115			19		0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53122529	53122529	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:53122529G>A	uc001cuf.3	+	2	490	c.390G>A	c.(388-390)gtG>gtA	p.V130V	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.3_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	130						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGCCAAAAGTGAGCCCTCTCC	0.562000														86			18		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2019092	2019092	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2019092C>T	uc021qsx.1	-	3	697	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E156K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	156						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCATTGAATTCGTGGTTCAGG	0.587000														20			4		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598279	31598279	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:31598279G>A	uc002rnv.1	-	14	1648	c.1569C>T	c.(1567-1569)gtC>gtT	p.V523V		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	523					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCTTCTGAAGGACTGTCAGGT	0.577000														102			23		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222318	115222318	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115222318G>A	uc001efe.2	-	6	926	c.878C>T	c.(877-879)aCc>aTc	p.T293I	AMPD1_uc001eff.2_Missense_Mutation_p.T289I	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	260					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCGCCGGTGGGTATAGGTCTT	0.413000														104			19		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22592009	22592009	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22592009G>A	uc001wdd.2	+	1	241	c.94G>A	c.(94-96)Gga>Aga	p.G32R	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Missense_Mutation_p.G32R|TCRA_uc001wde.1_Missense_Mutation_p.G6R|TCRA_uc010aji.1_Missense_Mutation_p.G32R					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		TTGCGCTGAAGGAAGAGCTGC	0.463000														97			13		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408188	107408188	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107408188C>T	uc004enw.4	-	38	3995	c.3892G>A	c.(3892-3894)Gga>Aga	p.G1298R	COL4A6_uc004env.4_Missense_Mutation_p.G1297R|COL4A6_uc011msn.2_Missense_Mutation_p.G1273R|COL4A6_uc010npk.3_Missense_Mutation_p.G1273R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1298	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			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						CCAGGAATTCCAGGGAAGCCA	0.617000									Alport syndrome with Diffuse Leiomyomatosis					20			13		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872557	55872557	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55872557C>T	uc010riy.2	+	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGGCTGACTTCATCCTTATGG	0.443000										HNSCC(53;0.14)				158			40		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123517667	123517667	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:123517667C>T	uc010nqy.3	-	29	7178	c.7114G>A	c.(7114-7116)Gat>Aat	p.D2372N	ODZ1_uc011muj.2_Missense_Mutation_p.D2371N|ODZ1_uc004euj.3_Missense_Mutation_p.D2365N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2365					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						GTAAGGAAATCATAGAGTCCT	0.408000														60			14		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111311748	111311748	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:111311748G>A	uc001trv.1	+	4	667	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	CCDC63_uc009zvt.1_Missense_Mutation_p.E73K|CCDC63_uc010sye.1_Missense_Mutation_p.E118K|CCDC63_uc001trw.1_Missense_Mutation_p.E73K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	158										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCACATTTTGGAAACCCGTTT	0.428000														79			10		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:30705003C>T	uc003xil.3	-	0	1531	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000														42			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076269	9076269	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9076269G>A	uc002mkp.3	-	2	11381	c.11177C>T	c.(11176-11178)tCc>tTc	p.S3726F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3727	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						CAGAAAAGTGGACAGGGGCGT	0.493000														95			20		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491771	151491771	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:151491771C>T	uc009wmw.3	+	1	920	c.776C>T	c.(775-777)cCt>cTt	p.P259L		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	253	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACCTGAGTCCTCTCAGTGGC	0.582000														73			7		0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48379942	48379942	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:48379942C>T	uc003gya.4	+	2	712	c.568C>T	c.(568-570)Cct>Tct	p.P190S		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	190						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						ATATAATAATCCTTTCAACTC	0.398000														29			14		0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38078544	38078544	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:38078544C>T	uc001cbl.2	-	7	1567	c.675G>A	c.(673-675)agG>agA	p.R225R	RSPO1_uc009vvf.2_Silent_p.R198R|RSPO1_uc001cbm.2_Silent_p.R225R|RSPO1_uc009vvg.2_Silent_p.R162R	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	225					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCCAGGTTCCTGTTGGCAT	0.607000														88			13		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053050	15053050	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15053050C>T	uc010xoc.2	+	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCAGCTTGTTCTATGGCACTG	0.527000														108			9		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42953379	42953379	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42953379G>A	uc002ihn.2	-	9	1053	c.792C>T	c.(790-792)atC>atT	p.I264I	EFTUD2_uc010wje.1_Silent_p.I229I|EFTUD2_uc010wjf.1_Silent_p.I254I	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	264						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCAGCTCCAGGATCAGCCGGT	0.507000														186			16		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761987	130761987	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:130761987C>T	uc003qcb.3	+	1	2798	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TMEM200A_uc003qca.3_Silent_p.F140F|TMEM200A_uc010kfh.3_Silent_p.F140F|TMEM200A_uc010kfi.3_Silent_p.F140F|TMEM200A_uc021zfg.1_Silent_p.F140F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	140						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTTCATTTTCATTTGTGCTA	0.413000														69			11		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596739	142596739	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:142596739C>T	uc004fbw.3	-	1	419	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	111										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTGTCCTCCTTTGAAGGT	0.468000														68			20		0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18497266	18497266	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18497266C>T	uc002niv.2	+	0	299	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MIR3189_uc021uqo.1_5'Flank	NM_004864	NP_004855	Q99988	GDF15_HUMAN	Homo sapiens growth differentiation factor 15 (GDF15), mRNA.	89					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						TCCGGATACTCACGCCAGAAG	0.577000														27			6		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92469970	92469970	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:92469970G>A	uc001dol.4	+	18	2807	c.2389_splice	c.e18-1	p.D797_splice	BRDT_uc010osz.2_Splice_Site_p.D801_splice|BRDT_uc001dok.4_Splice_Site_p.D797_splice|BRDT_uc009wdf.3_Splice_Site_p.D724_splice|BRDT_uc010otb.2_Splice_Site_p.D751_splice|BRDT_uc010ota.2_Splice_Site_p.D751_splice|BRDT_uc001dom.4_Splice_Site_p.D797_splice	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATTTGTTTTAGGATATAAAGA	0.313000														85			17		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157997882	157997882	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:157997882C>T	uc003wno.3	-	3	482	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E104K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E121K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E83K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E144K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	121						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGGATGCTTCAGGACGCCTC	0.488000														34			21		0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120252445	120252445	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:120252445G>A	uc003yop.3	+	3	446	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA.	115	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTCTATTTTGGAGCCTTTTTA	0.363000														47			8		0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72610103	72610103	+	Missense_Mutation	SNP	C	T	T	rs147195509		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72610103C>T	uc002jlb.2	-	2	595	c.458G>A	c.(457-459)cGa>cAa	p.R153Q		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	153						integral to membrane|plasma membrane	receptor activity	p.R153Q(2)|p.R153*(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGAGGTTTCGCCCAGGGTT	0.587000														20			7		0	0	1	0	0
DAZ2	57055	broad.mit.edu	37	Y	25375761	25375761	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrY:25375761C>T	uc011nbl.2	+	6	822	c.515C>T	c.(514-516)cCa>cTa	p.P172L	DAZ2_uc022col.1_Missense_Mutation_p.P172L|DAZ2_uc022com.1_Missense_Mutation_p.P172L|DAZ2_uc004fvt.3_Missense_Mutation_p.P172L|DAZ2_uc004fvu.3_Missense_Mutation_p.P172L|DAZ2_uc004fvq.3_Missense_Mutation_p.P172L|DAZ2_uc022con.1_Missense_Mutation_p.P172L|DAZ2_uc022coo.1_Missense_Mutation_p.P172L|DAZ2_uc004fvw.3_Missense_Mutation_p.P172L|DAZ2_uc004fvr.3_Missense_Mutation_p.P172L|DAZ2_uc004fvs.3_Missense_Mutation_p.P172L|DAZ2_uc010nxl.1_Missense_Mutation_p.P122L|DAZ2_uc022cok.1_Missense_Mutation_p.P123L	NM_001005785	NP_065097	Q13117	DAZ2_HUMAN	Homo sapiens deleted in azoospermia 2 (DAZ2), transcript variant 2, mRNA.	172	DAZ-like 1.				cell differentiation|multicellular organismal development|single fertilization|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding										TCTGCTTATCCACATTCACCA	0.323000														20			5		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39552694	39552694	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39552694C>T	uc003oot.2	-	8	1152	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	KIF6_uc010jxa.1_Missense_Mutation_p.E144K|KIF6_uc011dua.1_Missense_Mutation_p.E353K|KIF6_uc010jxb.1_Missense_Mutation_p.E353K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	353					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTAATTTCTTCATTAAGAACA	0.313000														102			14		0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	114009649	114009649	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:114009649G>A	uc010tkc.2	-	2	426	c.329C>T	c.(328-330)gCc>gTc	p.A110V	GRTP1_uc001vtn.3_Missense_Mutation_p.A110V|GRTP1_uc010tkb.2_Missense_Mutation_p.A32V|GRTP1_uc010agv.1_Non-coding_Transcript	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	110	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGTCCTGATGGCGTCCTCCAG	0.662000														72			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639094	179639094	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179639094C>T	uc021vsy.1	-	29	7122	c.6897G>A	c.(6895-6897)tgG>tgA	p.W2299*	TTN_uc021vsz.1_Nonsense_Mutation_p.W2253*|TTN_uc021vta.1_Nonsense_Mutation_p.W2253*|TTN_uc021vtb.1_Nonsense_Mutation_p.W2253*|TTN_uc002unb.2_Nonsense_Mutation_p.W2299*|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2299	Ig-like 12.						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)			CATTATGATACCATTTTCCTT	0.393000														48			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284311	152284311	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152284311C>T	uc001ezu.1	-	2	3087	c.3051G>A	c.(3049-3051)caG>caA	p.Q1017Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1017	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)			ATGACGCAGCCTGTCCACCAG	0.587000									Ichthyosis					402			97		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188432	7188432	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7188432C>T	uc010sfy.2	-	8	1347	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	508	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTTCGTGTTCCTTGGGATAC	0.612000														35			11		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440560	124440560	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124440560C>T	uc010san.2	+	0	596	c.596C>T	c.(595-597)cCt>cTt	p.P199L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	199					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)		GACATCCTCCCTCTCATGAAG	0.458000														78			20		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616312	92616313	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:92616312_92616313CC>TT	uc001pdj.4	+	22	12707_12708	c.12690_12691CC>TT	c.(12688-12693)gtcccc>gtTTcc	p.P4231S	FAT3_uc001pdi.4_Missense_Mutation_p.P671S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4231					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V4230V(2)|p.V805V(1)		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)				CCCCGCAGGTCCCCGTGCGCCC	0.658000										TCGA Ovarian(4;0.039)				125			25		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139266721	139266721	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:139266721G>A	uc003qii.3	-	2	970	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	REPS1_uc003qig.4_Missense_Mutation_p.P131S|REPS1_uc011edr.2_Missense_Mutation_p.P131S|REPS1_uc003qij.3_Missense_Mutation_p.P131S|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	131						coated pit|plasma membrane	SH3 domain binding|calcium ion binding	p.R131H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GGTGGTGGGGGAATTACACCA	0.468000														135			13		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33700218	33700218	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:33700218C>T	uc001uuw.3	-	7	2208	c.2082_splice	c.e7+1	p.Q694_splice	STARD13_uc001uuu.3_Splice_Site_p.Q686_splice|STARD13_uc001uuv.3_Splice_Site_p.Q576_splice|STARD13_uc001uux.3_Splice_Site_p.Q659_splice|STARD13_uc021rhz.1_Splice_Site_p.Q686_splice|STARD13_uc021ria.1_Splice_Site_p.Q576_splice	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	694	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACAGCCCTACCTGATCGAGGC	0.557000														60			9		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030850	69030850	+	Missense_Mutation	SNP	C	T	T	rs150128151		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:69030850C>T	uc003xxv.1	+	26	3419	c.3392C>T	c.(3391-3393)tCg>tTg	p.S1131L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1131					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						CAGTGCAGCTCGTATTTCCAC	0.438000														80			12		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121211696	121211696	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:121211696G>A	uc003yox.3	+	7	1033	c.768G>A	c.(766-768)agG>agA	p.R256R	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_Intron	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	256	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R256K(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGGATCAAGGACTGGAGTAT	0.368000														23			5		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100226930	100226930	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:100226930G>A	uc001pga.3	+	24	3786	c.3282G>A	c.(3280-3282)atG>atA	p.M1094I	CNTN5_uc021qpb.1_Missense_Mutation_p.M1094I|CNTN5_uc021qpc.1_Missense_Mutation_p.M1020I|CNTN5_uc010ruk.2_Missense_Mutation_p.M365I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1094			M -> V (in dbSNP:rs35208161).		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)		TGGCATTGATGATTCCTTCAA	0.428000														12			4		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33133518	33133518	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33133518G>A	uc003ocx.1	-	62	4786	c.4558C>T	c.(4558-4560)Cgt>Tgt	p.R1520C	COL11A2_uc010jul.1_Missense_Mutation_p.R90C|COL11A2_uc003ocy.1_Missense_Mutation_p.R1434C|COL11A2_uc003ocz.1_Missense_Mutation_p.R1413C	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1520					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.R1520C(2)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCATCAGACGGCTTCCATCC	0.652000														101			22		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702603	27702603	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:27702603C>T	uc001itu.2	-	0	695	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	193					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						CGGTAGGAGTCGTTGGTGGTG	0.612000														165			9		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	T	T	rs144276666		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29012269C>T	uc003nlw.2	-	0	684	c.684G>A	c.(682-684)acG>acA	p.T228T	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000														148			9		0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27216518	27216518	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:27216518C>T	uc001uqv.3	+	2	336	c.111C>T	c.(109-111)atC>atT	p.I37I	WASF3_uc001uqw.3_Silent_p.I37I	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	37					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTGCCGCTATCATACGCCAGC	0.428000														103			14		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349759	90349759	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:90349759C>T	uc002bop.4	-	1	348	c.56G>A	c.(55-57)gGc>gAc	p.G19D		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	19					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)	GGCTGCCACGCCCAGGAGGAT	0.627000														61			12		0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103378691	103378691	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103378691C>T	uc010fjb.3	+	0	202	c.15C>T	c.(13-15)atC>atT	p.I5I	TMEM182_uc002tcc.4_Intron|TMEM182_uc002tcd.4_Intron	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	5						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GACTAAATATCGCTATCTTCT	0.358000														27			8		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116593759	116593759	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:116593759G>A	uc002tle.3	+	21	2010	c.1989G>A	c.(1987-1989)atG>atA	p.M663I	DPP10_uc002tla.2_Missense_Mutation_p.M659I|DPP10_uc002tlb.2_Missense_Mutation_p.M609I|DPP10_uc002tlc.2_Missense_Mutation_p.M655I|DPP10_uc002tlf.2_Missense_Mutation_p.M652I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	659					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGCATCAATGATCTTAAAAT	0.353000														21			5		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589851	26589851	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26589851C>T	uc001isp.2	+	15	2222	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	GAD2_uc001isq.2_Silent_p.F573F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	573					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ACATTGACTTCCTGATTGAAG	0.438000														76			8		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996154	166996154	+	Splice_Site	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:166996154A>G	uc003irh.2	+	17	2961	c.2314_splice	c.e17+1	p.A772_splice	TLL1_uc011cjn.2_Splice_Site_p.A795_splice|TLL1_uc011cjo.2_Splice_Site_p.A596_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	772					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGCAAGGAAGGTATGGAAC	0.398000														98			21		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44069477	44069477	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:44069477G>A	uc001cjr.3	+	15	2994	c.2654G>A	c.(2653-2655)gGg>gAg	p.G885E	PTPRF_uc001cjs.3_Missense_Mutation_p.G876E|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Missense_Mutation_p.G445E|PTPRF_uc001cjv.3_Missense_Mutation_p.G345E|PTPRF_uc001cjw.3_Missense_Mutation_p.G111E	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	885	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGCACAAGGGGACCACCTAC	0.637000														71			21		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404270	197404270	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197404270C>T	uc001gtz.3	+	8	3486	c.3277C>T	c.(3277-3279)Ctg>Ttg	p.L1093L	CRB1_uc010poz.2_Silent_p.L1069L|CRB1_uc009wza.3_Silent_p.L981L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Silent_p.L574L|CRB1_uc001gub.1_Silent_p.L742L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1093	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						TATAAAGGGCCTGCAAGGGTG	0.373000														49			6		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37283664	37283664	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:37283664G>A	uc002rpp.1	-	15	2414	c.2318C>T	c.(2317-2319)cCc>cTc	p.P773L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	773							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAGAGGGAGGGGACCAGGTAC	0.478000														90			8		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36287142	36287142	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36287142C>T	uc003oly.3	-	10	2092	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	638										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCGGCTGGTCCTCCCTGTATG	0.537000														91			21		0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104118101	104118101	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104118101C>T	uc010ouo.2	+	18	2744	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	AMY2B_uc001duq.3_Missense_Mutation_p.P347L|AMY2B_uc001dur.3_Missense_Mutation_p.P347L|AMY2B_uc001dus.1_Non-coding_Transcript	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	347					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			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)		CTTGCTCATCCTTATGGTTTT	0.323000														417			23		0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42526712	42526713	+	Missense_Mutation	DNP	GT	AA	AA	rs138100349	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42526712_42526713GT>AA	uc003bce.3	-	0	171_172	c.81_82AC>TT	c.(79-84)caacgc>caTTgc	p.27_28QR>HC	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'Flank|CYP2D6_uc003bcf.3_Missense_Mutation_p.27_28QR>HC	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	27							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.R28C(3)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAGCCCAGCGTTGGCGCCGGT	0.629000														10			4		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373909	86373909	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:86373909G>A	uc010sum.2	-	5	826	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	MGAT4C_uc001tal.4_Missense_Mutation_p.R199C|MGAT4C_uc001taj.4_Missense_Mutation_p.R199C|MGAT4C_uc001tak.4_Missense_Mutation_p.R199C|MGAT4C_uc001tai.4_Missense_Mutation_p.R199C|MGAT4C_uc001tah.4_Missense_Mutation_p.R199C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTGGAACGAAATTTGACT	0.338000														80			5		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175402	55175402	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55175402C>T	uc002qgp.3	+	2	623	c.261C>T	c.(259-261)tcC>tcT	p.S87S	LILRB4_uc002qgo.1_Silent_p.S128S|LILRB4_uc002qgq.3_Silent_p.S87S|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Silent_p.S128S|LILRB4_uc010eru.3_Silent_p.S116S	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	87	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCATCCCATCCATGACAGAGG	0.572000														228			19		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142281548	142281548	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:142281548G>A	uc011dbj.2	+	6	681	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	ARHGAP26_uc003lmt.3_Missense_Mutation_p.E216K|ARHGAP26_uc003lmw.3_Missense_Mutation_p.E216K	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	216					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGGTTACGAACTGGCCAA	0.453000														80			7		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14029259	14029259	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:14029259G>A	uc002dce.2	+	7	1479	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R	ERCC4_uc010uyz.1_Silent_p.R40R	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	490			R -> Q (in XP-F).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGAAAAAACGGAAGTTGACCT	0.408000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					39			9		0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056375	48056375	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:48056375C>T	uc010bek.3	+	10	1330	c.970C>T	c.(970-972)Cct>Tct	p.P324S	SEMA6D_uc001zvw.3_Missense_Mutation_p.P324S|SEMA6D_uc001zvx.1_Missense_Mutation_p.P324S|SEMA6D_uc001zvy.3_Missense_Mutation_p.P324S|SEMA6D_uc001zvz.3_Missense_Mutation_p.P324S|SEMA6D_uc001zwa.3_Missense_Mutation_p.P324S|SEMA6D_uc001zwb.3_Missense_Mutation_p.P324S|SEMA6D_uc001zwc.3_Missense_Mutation_p.P324S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	324	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTCAGCATCCCTGGTTCTGC	0.453000														73			18		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046898	73046898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:73046898G>A	uc001sxa.3	+	16	2841	c.2811G>A	c.(2809-2811)tgG>tgA	p.W937*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	937					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						ACCTTGCCTGGAAGTTTTTCA	0.383000														30			8		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362500	105362500	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:105362500G>A	uc010qqu.1	-	11	2287	c.2220C>T	c.(2218-2220)ctC>ctT	p.L740L	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.L632L|SH3PXD2A_uc010qqt.1_Silent_p.L674L|SH3PXD2A_uc009xxn.1_Silent_p.L632L|SH3PXD2A_uc001kxj.1_Silent_p.L797L	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	825					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGGTGGCTGGGAGGGTGATGA	0.622000														78			27		0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3388214	3388214	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:3388214C>T	uc001qlp.3	+	4	495	c.312C>T	c.(310-312)ttC>ttT	p.F104F	TSPAN9_uc021qtd.1_Silent_p.F104F	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	104						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TCATCCTCTTCTTTGTCTACA	0.532000														50			10		0	0	1	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119222391	119222391	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119222391C>T	uc003ecn.3	+	2	586	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_Non-coding_Transcript	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA.	125						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATCTGCACATCGTGCTGCCAC	0.413000														10			7		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819752	110819752	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:110819752C>T	uc003kpf.3	+	10	1245	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	CAMK4_uc010jbv.3_Missense_Mutation_p.S140L|CAMK4_uc003kpg.3_Missense_Mutation_p.S28L	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	337	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTGGCCTCTTCGCGCCTGGGA	0.557000														40			4		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717196	142717196	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:142717196C>T	uc022cfm.1	-	0	1729	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	SLITRK4_uc022cfl.1_Missense_Mutation_p.E577K|SLITRK4_uc004fbx.3_Missense_Mutation_p.E577K|SLITRK4_uc004fby.3_Missense_Mutation_p.E577K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	577	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAGATTTCATTTTTGAGG	0.463000														86			23		0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48827944	48827944	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48827944G>A	uc002isq.3	+	9	1389	c.1221G>A	c.(1219-1221)tcG>tcA	p.S407S	LUC7L3_uc010wmw.2_Silent_p.S331S|LUC7L3_uc002isr.3_Silent_p.S407S|LUC7L3_uc002iss.3_Silent_p.S407S|AK090674_uc002ist.1_5'Flank	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	407					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						ACACTGAATCGAAGGAAAGTG	0.398000														103			19		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19735412	19735412	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:19735412C>T	uc010rdm.2	+	0	532	c.171C>T	c.(169-171)ccC>ccT	p.P57P	NAV2_uc001mpp.3_Intron|NAV2_uc001mpr.4_Silent_p.P57P|NAV2_uc021qew.1_Silent_p.P57P|LOC100126784_uc010rdl.2_3'UTR	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	57						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCCAGATCCCCCTGAAATCGC	0.672000														35			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175897	140175897	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140175897G>A	uc003lhd.2	+	0	1454	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.D450N|PCDHAC2_uc011czy.2_Missense_Mutation_p.D450N	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	464	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)			CGACGTGAACGACAACGCGCC	0.642000														65			10		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622457	234622457	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234622457G>A	uc002vuw.3	+	0	820	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.V274I	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	273					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCCCAACATGGTCTTCATTGG	0.498000														75			6		0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675591	54675591	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54675591C>T	uc001sfl.3	+	2	249	c.145C>T	c.(145-147)Cca>Tca	p.P49S	CBX5_uc001sfk.4_5'Flank|HNRNPA1_uc001sfm.3_Missense_Mutation_p.P49S|HNRNPA1_uc001sfn.3_Missense_Mutation_p.P49S|HNRNPA1_uc001sfo.3_Non-coding_Transcript|HNRNPA1_uc009znj.1_Missense_Mutation_p.P4S	NM_031157	NP_112420	P09651	ROA1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), transcript variant 2, mRNA.	49	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	p.P49P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AATGAGAGATCCAAACACCAA	0.438000														26			3		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671667	39671667	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:39671667G>A	uc021wjc.1	+	0	484	c.484G>A	c.(484-486)Gga>Aga	p.G162R	KCNJ15_uc002ywv.3_Missense_Mutation_p.G162R|KCNJ15_uc002yww.3_Missense_Mutation_p.G162R|KCNJ15_uc002ywx.3_Missense_Mutation_p.G162R	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	162					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.G162R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTTCATCACCGGAACCTTCCT	0.512000														59			4		0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31695391	31695391	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31695391G>A	uc003nwp.3	-	4	1301	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	DDAH2_uc003nwq.3_Missense_Mutation_p.R224C	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	224					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	AACCCAGGACGAAGAAAGAGA	0.582000														163			13		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062953	73062953	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73062953G>A	uc004ebm.1	-	0		c.9636C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGGTCAGGGAGGGAGAAAACC	0.463000														29			8		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55242487	55242487	+	Missense_Mutation	SNP	C	T	T	rs121913438		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:55242487C>T	uc003tqk.3	+	18	2503	c.2257C>T	c.(2257-2259)Ccg>Tcg	p.P753S	EGFR_uc022adm.1_Missense_Mutation_p.P753S|EGFR_uc010kzg.2_Missense_Mutation_p.P708S|EGFR_uc022adn.1_Missense_Mutation_p.P708S|EGFR_uc011kco.2_Missense_Mutation_p.P700S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	753	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L747_P753>S(336)|p.E746_S752>V(86)|p.L747_S752del(68)|p.S752_I759del(31)|p.L747_P753del(28)|p.L747_P753>Q(26)|p.T751_I759>N(19)|p.E746_S752del(13)|p.E746_P753>VS(8)|p.E746_S752>A(7)|p.T751_I759>S(6)|p.P753S(6)|p.A750_E758>P(5)|p.T751_I759del(5)|p.L747_K754del(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.L747_S752>QH(3)|p.L747_K754>N(3)|p.A750_E758del(3)|p.L747_S752>Q(3)|p.E746_P753del(3)|p.T751_E758del(3)|p.L747_K754>ST(2)|p.L747_A755>AT(2)|p.T751_I759>REA(2)|p.P753_I759del(2)|p.E746_P753>IS(2)|p.E749_E758>QP(2)|p.A750_K757del(2)|p.E746_S752>T(2)|p.A750_K754del(2)|p.S752P(2)|p.P753P(2)|p.T751_I759>NKA(2)|p.E746_P753>LS(2)|p.E746_P753>VQ(2)|p.L747_S752>QR(1)|p.747_752>S(1)|p.L747_A755del(1)|p.R748_S752del(1)|p.L747_N756>SKDD(1)|p.S752Y(1)|p.E749_P753>Q(1)|p.T751_E758>A(1)|p.L747_S752>V(1)|p.L747_A755>SKS(1)|p.R748_P753del(1)|p.E746_P753>AT(1)|p.L747_P753>CG(1)|p.S752_V769del(1)|p.L747_K754>GC(1)|p.P753F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCAACATCTCCGAAAGCCAA	0.483000	L747_P753>Q(HCC4006_LUNG)|P753S(SKMEL28_SKIN)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				49			9		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177603	7177603	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7177603G>A	uc001qsj.3	+	14	2434	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	C1S_uc001qsk.3_Missense_Mutation_p.R572Q|C1S_uc001qsl.3_Missense_Mutation_p.R572Q|C1S_uc009zfr.3_Missense_Mutation_p.R405Q|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	572	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGGGCCGAACAGAGAAG	0.537000														32			3		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712341	121712341	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712341C>T	uc003ees.3	-	6	1458	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	ILDR1_uc003eeq.3_Missense_Mutation_p.D387N|ILDR1_uc003eer.3_Missense_Mutation_p.D375N|ILDR1_uc010hrg.3_Missense_Mutation_p.D330N	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	419						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTTAGGCTGTCCCTGTCTGAC	0.617000														55			5		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863686	55863686	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55863686G>A	uc010spn.2	-	0	237	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TGGTGATTAGGAATCTGGGAA	0.383000														39			7		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94039067	94039067	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:94039067C>T	uc003ung.1	+	18	1440	c.969C>T	c.(967-969)ctC>ctT	p.L323L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	323					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCCGGCCTCCCTGGACCCC	0.582000										HNSCC(75;0.22)				75			5		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42961028	42961028	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42961028G>A	uc002ihn.2	-	4	676	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	EFTUD2_uc010wje.1_Missense_Mutation_p.H104Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H139Y	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	139						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTGCCATGGTGGAGATGTCCA	0.443000														56			14		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38409517	38409517	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:38409517G>A	uc001ccg.1	-	3	295	c.201C>T	c.(199-201)gtC>gtT	p.V67V	INPP5B_uc009vvk.1_Silent_p.V8V|INPP5B_uc001cch.3_Silent_p.V8V	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	67					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGTCCAGAGAGACATCGTCCC	0.607000														96			9		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87060767	87060767	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87060767C>T	uc003uiv.1	-	14	1922	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ABCB4_uc003uiw.1_Missense_Mutation_p.E616K|ABCB4_uc003uix.1_Missense_Mutation_p.E616K	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	616	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.E616K(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCATCAGTTCGCTGTGGCTT	0.453000														101			18		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21014518	21014518	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21014518C>T	uc010vbe.2	-	41	6034	c.6034G>A	c.(6034-6036)Gat>Aat	p.D2012N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2012					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D2012N(3)		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)		AAATAAAAATCATAGATGCTT	0.393000														79			6		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124598622	124598622	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:124598622G>A	uc001lgs.3	-	4	1310	c.359C>T	c.(358-360)tCc>tTc	p.S120F	CUZD1_uc001lgp.3_5'Flank|CUZD1_uc009yad.3_5'Flank|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Missense_Mutation_p.S120F	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	120	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAATGTACTGGATGATGATTC	0.398000														178			10		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95090040	95090040	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:95090040G>A	uc001ydp.3	+	4	1320	c.1161G>A	c.(1159-1161)gtG>gtA	p.V387V	SERPINA3_uc001ydo.4_Silent_p.V412V|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Silent_p.V387V|SERPINA3_uc001yds.3_Silent_p.V387V	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	387	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGCATTAGTGGAGACAAGGA	0.498000														87			23		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401788	140401788	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140401788G>C	uc003eto.2	+	1	1032	c.826G>C	c.(826-828)Gtc>Ctc	p.V276L		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	276						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAAGACCACGTCTTTGTGGA	0.567000														34			6		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680634	30680634	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30680634C>A	uc003nrg.4	-	4	1525	c.1085G>T	c.(1084-1086)gGa>gTa	p.G362V	MDC1_uc003nrf.4_Missense_Mutation_p.G16V|MDC1_uc011dmp.1_Missense_Mutation_p.G234V|MDC1_uc003nrh.1_Missense_Mutation_p.G234V|MDC1_uc003nri.2_Missense_Mutation_p.G362V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	362	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCCTGGTGCTCCAGGACCCCT	0.552000								Other conserved DNA damage response genes						94			16		4.14922e-12	4.19752e-12	1	1	0
MAP4K4	9448	broad.mit.edu	37	2	102493494	102493494	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:102493494G>T	uc002tbc.3	+	25	3457	c.3079G>T	c.(3079-3081)Ggc>Tgc	p.G1027C	MAP4K4_uc002tbf.3_Missense_Mutation_p.G980C|MAP4K4_uc002tbd.3_Missense_Mutation_p.G919C|MAP4K4_uc010yvy.2_Missense_Mutation_p.G942C|MAP4K4_uc002tbh.3_Missense_Mutation_p.G864C|MAP4K4_uc002tbg.3_Missense_Mutation_p.G946C|MAP4K4_uc002tbi.3_Missense_Mutation_p.G749C|MAP4K4_uc010yvz.2_Missense_Mutation_p.G986C|MAP4K4_uc002tbk.3_Missense_Mutation_p.G401C|MAP4K4_uc021vlq.1_Missense_Mutation_p.G132C|MAP4K4_uc002tbl.3_Missense_Mutation_p.G132C	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	946	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACAGAGAGTGGCCTGATGCT	0.468000														34			7		0.000673444	0.000676037	1	1	0
ZNF451	26036	broad.mit.edu	37	6	56963880	56963880	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:56963880C>A	uc003pdm.1	+	2	351	c.127C>A	c.(127-129)Ctt>Att	p.L43I	ZNF451_uc003pdl.3_Missense_Mutation_p.L43I|ZNF451_uc003pdn.1_Missense_Mutation_p.L43I|ZNF451_uc011dxn.2_Missense_Mutation_p.L43I|ZNF451_uc003pdk.1_Missense_Mutation_p.L43I|ZNF451_uc003pdo.3_Non-coding_Transcript|ZNF451_uc003pdp.3_5'Flank	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACGACCTGTTCTTGAATACAT	0.333000														35			5		0.217242	0.217289	1	1	0
KRT39	390792	broad.mit.edu	37	17	39116612	39116612	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39116612C>T	uc002hvo.1	-	5	1174	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	KRT39_uc010wfm.1_Missense_Mutation_p.E113K	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	380	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGCAGGATCTCGTATTCTTGG	0.517000														72			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085435	9085435	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9085435G>A	uc002mkp.3	-	0	6584	c.6380C>T	c.(6379-6381)tCg>tTg	p.S2127L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2127	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						ACCTGTGACCGAGGATGCATC	0.493000														131			7		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896080	52896080	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:52896080C>T	uc002lga.3	-	18	2243	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q	TCF4_uc021ukg.1_Missense_Mutation_p.R462Q|TCF4_uc021ukh.1_Missense_Mutation_p.R462Q|TCF4_uc002lfw.4_Missense_Mutation_p.R466Q|TCF4_uc010xdu.1_Missense_Mutation_p.R492Q|TCF4_uc010xdv.1_Missense_Mutation_p.R492Q|TCF4_uc021uki.1_Missense_Mutation_p.R551Q|TCF4_uc002lfx.2_Missense_Mutation_p.R555Q|TCF4_uc010xdw.1_Missense_Mutation_p.R492Q|TCF4_uc002lfy.2_Missense_Mutation_p.R580Q|TCF4_uc010xdx.1_Missense_Mutation_p.R598Q|TCF4_uc021ukj.1_Missense_Mutation_p.R562Q|TCF4_uc021ukk.1_Missense_Mutation_p.R566Q|TCF4_uc021ukl.1_Missense_Mutation_p.R619Q|TCF4_uc002lfz.2_Missense_Mutation_p.R622Q|TCF4_uc010dph.1_Missense_Mutation_p.R626Q|TCF4_uc010dpi.3_Missense_Mutation_p.R632Q|TCF4_uc010xdy.1_Missense_Mutation_p.R602Q	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	622					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCACTGACCTCGGACTTGCTG	0.612000														43			6		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382583	22382583	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:22382583C>T	uc001yuc.1	+	6	1092	c.111C>T	c.(109-111)atC>atT	p.I37I	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.I37I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	37					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)		TCTACCTTATCATCCTCCCTG	0.433000														265			29		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595291	2595291	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2595291C>T	uc009zdu.1	+	5	1092	c.779C>T	c.(778-780)tCc>tTc	p.S260F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S260F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S260F|CACNA1C_uc001qke.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S260F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S260F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S260F|CACNA1C_uc001qko.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S260F|CACNA1C_uc001qku.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S260F|CACNA1C_uc001qks.2_Missense_Mutation_p.S260F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S260F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S260F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S260F|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.	260					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.A259D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTCCTGAATTCCATCATCAAG	0.562000														19			5		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892669	219892669	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219892669G>A	uc002vjl.1	-	12	1998	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	CCDC108_uc010fwa.1_Silent_p.F81F|CCDC108_uc010zkp.1_Silent_p.F627F|CCDC108_uc010zkq.1_Silent_p.F573F	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	638						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)		TGGTGCCGTCGAAGAAGAACT	0.617000														75			6		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431416	56431416	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56431416C>T	uc010rjm.2	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	85					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						TGGCTGACTTCCTAACAAATC	0.493000														158			32		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933880	10933880	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:10933880G>A	uc002yip.1	-	16	1367	c.999C>T	c.(997-999)atC>atT	p.I333I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.I315I|TPTE_uc002yir.1_Silent_p.I295I|TPTE_uc010gkv.1_Silent_p.I195I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	333	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I333I(1)|p.I315I(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)		GAATCGCTACGATGTTTTCAA	0.313000														191			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869565	140869565	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140869565A>T	uc003lla.2	+	0	758	c.758A>T	c.(757-759)gAg>gTg	p.E253V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.E253V	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	253	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAATCCCAGAGAATGCACCC	0.527000														183			14		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231255	7231255	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:7231255C>T	uc010wzk.2	+	0	119	c.119C>T	c.(118-120)cCg>cTg	p.P40L		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	40										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						GGAAGGGACCCGCGGTCCCTG	0.617000														83			19		0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77417884	77417884	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:77417884G>A	uc001sym.4	-	12	2883	c.2647C>T	c.(2647-2649)Cct>Tct	p.P883S	E2F7_uc009zse.3_3'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	883					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTCAGGACAGGGTCTCCAAGG	0.532000														100			10		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262110	158262110	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158262110C>T	uc001fru.3	+	2	857	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	189					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCCCCGATTTCTCTTGGGTCT	0.453000														371			32		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196887467	196887467	+	Silent	SNP	G	A	A	rs12757817		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196887467G>A	uc001gtp.3	+	9	1805	c.1668G>A	c.(1666-1668)gcG>gcA	p.A556A	CFH_uc021pgt.1_Silent_p.A179A|CFH_uc009wyy.3_Silent_p.A555A|CFH_uc001gto.3_Silent_p.A309A	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	1207	Sushi 9.				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						GATATAATGCGAATACATCAG	0.338000														83			15		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39696922	39696922	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:39696922C>T	uc001rly.3	-	35	4996	c.4576G>A	c.(4576-4578)Gaa>Aaa	p.E1526K	KIF21A_uc001rlv.3_Missense_Mutation_p.E471K|KIF21A_uc001rlw.3_Missense_Mutation_p.E796K|KIF21A_uc001rlx.3_Missense_Mutation_p.E1513K|KIF21A_uc001rlz.3_Missense_Mutation_p.E1473K|KIF21A_uc010skl.2_Missense_Mutation_p.E1489K|KIF21A_uc001rlt.3_Missense_Mutation_p.E146K|KIF21A_uc001rlu.3_Missense_Mutation_p.E146K	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1526					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGAGCTCCTTCTGTAACATCA	0.383000														42			9		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39213010	39213010	+	Splice_Site	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:39213010T>A	uc011aej.1	-	2	27	c.-26_splice	c.e2-1		KCNJ6_uc002ywo.2_Splice_Site	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TTTGTGCTTTTCCTGGAGGTG	0.333000														299			29		0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13167428	13167428	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:13167428C>T	uc001ilu.1	+	10	1447	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	OPTN_uc001ilv.1_Missense_Mutation_p.L337F|OPTN_uc001ilw.1_Missense_Mutation_p.L337F|OPTN_uc001ilx.1_Missense_Mutation_p.L337F|OPTN_uc001ily.1_Missense_Mutation_p.L331F|OPTN_uc010qbr.1_Missense_Mutation_p.L280F	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	337					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGTCAGGCCCTTGAAAGGAA	0.373000														61			6		0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74103141	74103141	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74103141G>A	uc001jsz.2	-	2	692	c.542C>T	c.(541-543)gCc>gTc	p.A181V	DNAJB12_uc001jta.2_Missense_Mutation_p.A181V|DNAJB12_uc010qjv.1_Missense_Mutation_p.A181V	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	147					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						GGCTTCAGTGGCACCAGGTGC	0.567000														12			3		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725553	55725553	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55725553G>A	uc010spj.2	+	0	69	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCAGATTGTGATTTTTCTCT	0.423000														71			12		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16103737	16103737	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16103737C>T	uc001axd.1	+	8	1406	c.963C>T	c.(961-963)atC>atT	p.I321I	FBLIM1_uc001axe.1_Silent_p.I321I|FBLIM1_uc001axh.1_Silent_p.I224I|FBLIM1_uc001axi.1_Silent_p.I224I	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	321	LIM zinc-binding 3.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.I321I(2)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCTTCAAAATCGAATGCATGG	0.488000														116			35		0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378929	31378929	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31378929G>A	uc003ntk.1	+	2	445	c.406G>A	c.(406-408)Gat>Aat	p.D136N	MICA_uc003rxz.1_Intron|MICA_uc021yun.1_Missense_Mutation_p.D39N|MICA_uc021yuo.1_Missense_Mutation_p.D39N	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	136					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TTTCTACTACGATGGGGAGCT	0.547000														33			9		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092003	143092003	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:143092003C>G	uc003qjd.3	-	4	4616	c.3873G>C	c.(3871-3873)aaG>aaC	p.K1291N		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1290Q(1)		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)		GAAGAAGGTTCTTTGGGTGTA	0.488000														273			27		0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129349038	129349038	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:129349038C>T	uc003vpa.3	+	5	850	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	NRF1_uc003voz.3_Missense_Mutation_p.R244W|NRF1_uc011kpa.2_Missense_Mutation_p.R83W|NRF1_uc003vpb.3_Missense_Mutation_p.R244W	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	244					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGCAAATGTCCGGAGTGATGT	0.502000														197			15		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183529291	183529291	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:183529291C>T	uc001gqj.4	-	13	1683	c.1408G>A	c.(1408-1410)Gct>Act	p.A470T	NCF2_uc010pod.2_Missense_Mutation_p.A425T|NCF2_uc010poe.2_Missense_Mutation_p.A389T|NCF2_uc001gqk.4_Missense_Mutation_p.A470T	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	470	SH3 2.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GGTTGGGTAGCCTCATAACTG	0.433000														106			27		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42144147	42144147	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42144147G>A	uc003baz.1	+	14	1742	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	573							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCTTTGATGGAAGTTTTCCT	0.498000														36			3		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28913685	28913685	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:28913685C>T	uc002kwp.3	+	7	1031	c.819_splice	c.e7+1	p.S273_splice		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	273	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAACAGTCTTCAGTAAGTATT	0.373000														39			9		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028385	21028385	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21028385G>A	uc010sil.2	+	6	1009	c.944G>A	c.(943-945)gGa>gAa	p.G315E	SLCO1B3_uc001rek.3_Missense_Mutation_p.G315E|SLCO1B3_uc001rel.3_Missense_Mutation_p.G315E|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	315					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACCAACCAAGGAAAAAATGTT	0.299000														24			7		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98188504	98188504	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:98188504C>T	uc001kml.2	-	5	762	c.521_splice	c.e5-1	p.G174_splice	TLL2_uc009xvf.2_Splice_Site_p.G122_splice	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	174	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCCTCTGGCTCCCTGAAACAA	0.443000														39			10		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69114916	69114916	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:69114916G>A	uc001suf.3	+	14	1385	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	NUP107_uc001sug.3_Missense_Mutation_p.E271K|NUP107_uc010stj.2_Missense_Mutation_p.E395K	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	424					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TAATAGATACGAGAGAGCAAT	0.269000														73			6		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43111199	43111200	+	Missense_Mutation	DNP	CC	TT	TT	rs148120569		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43111199_43111200CC>TT	uc011dve.1	+	13	2158_2159	c.2116_2117CC>TT	c.(2116-2118)ccc>TTc	p.P706F	PTK7_uc003oub.1_Missense_Mutation_p.P698F|PTK7_uc003ouc.1_Missense_Mutation_p.P642F|PTK7_uc003oud.1_Missense_Mutation_p.P658F|PTK7_uc003oue.1_Missense_Mutation_p.P568F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	698					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGCCCTCCCCCCTACAAGATG	0.599000											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			16		0	0	1	0	0
MST4	51765	broad.mit.edu	37	X	131202562	131202562	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:131202562C>T	uc004ewk.1	+	5	863	c.562C>T	c.(562-564)Cct>Tct	p.P188S	MST4_uc004ewl.1_Missense_Mutation_p.P111S|MST4_uc011mux.1_Missense_Mutation_p.P210S|MST4_uc010nrj.1_Missense_Mutation_p.P188S|MST4_uc004ewm.1_Missense_Mutation_p.P188S	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	188	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGGATGGCTCCTGAAGTTAT	0.363000														51			17		0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102195416	102195416	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102195416G>C	uc001pgx.3	+	1	2971	c.176G>C	c.(175-177)gGt>gCt	p.G59A		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	59					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATTACACTGGTGTGAATGAC	0.443000			T	MALT1	MALT									99			13		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244652	141244652	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:141244652G>A	uc003llp.3	-	2	1361	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	PCDH1_uc011dbf.2_Missense_Mutation_p.A393V|PCDH1_uc003llq.3_Missense_Mutation_p.A415V	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	415	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGCACCAGGGCCACAGCTGT	0.582000														66			12		0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610530	19610530	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:19610530G>A	uc001bbv.1	-	5	871	c.794C>T	c.(793-795)tCg>tTg	p.S265L		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	265					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGTGGCCGAGGTCATGCT	0.617000														72			21		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56722320	56722320	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56722320G>A	uc001skx.3	-	2	765	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	PAN2_uc001sky.3_Missense_Mutation_p.L130F|PAN2_uc001skz.3_Missense_Mutation_p.L130F	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	130					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GTGAGAAAAAGGATACCATTC	0.478000														92			13		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078617	133078617	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:133078617G>A	uc003qdt.3	-	1	293	c.282C>T	c.(280-282)ttC>ttT	p.F94F	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Silent_p.F94F|VNN2_uc003qdv.3_Silent_p.F41F	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	94	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCAGATAAGGGAAAACAGTTT	0.398000														39			11		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55119209	55119209	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55119209C>T	uc010ooe.1	+	2	934	c.610C>T	c.(610-612)Cca>Tca	p.P204S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.P204S|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.P204S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	204						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTCCTTATTCCAACCTCAAA	0.463000														64			22		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928109	196928109	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196928109G>A	uc001gtq.1	+	4	789	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CFHR2_uc001gtr.1_Missense_Mutation_p.E114K	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	238	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TGACATAGTTGAATTTGTTTG	0.308000														32			6		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631620	141631620	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141631620G>A	uc003vwv.1	-	5	549	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	CLEC5A_uc011krm.1_Missense_Mutation_p.L95F|CLEC5A_uc003vww.1_Missense_Mutation_p.L117F|CLEC5A_uc010lnq.1_Missense_Mutation_p.L95F|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	118	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.L118V(2)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTCCTGAAGAAACTTCTGG	0.373000														83			12		0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40713878	40713878	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:40713878G>A	uc001cfe.2	+	0	306	c.213G>A	c.(211-213)tgG>tgA	p.W71*		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	71						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGCCTTATGGAAACGAAGTA	0.318000														95			32		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213507	21213507	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21213507G>A	uc010bwn.1	-	10	1404	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	ZP2_uc002dii.2_Missense_Mutation_p.S402F	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	402	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGCTGGCAGGATGAGTTTCC	0.542000														25			5		0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832787	72832787	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72832787C>T	uc002jls.4	+	9	1614	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.F484F	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	484						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCTTCATTTTCGTCACGGCCA	0.612000														51			4		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751667	247751667	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247751667G>A	uc010pyy.2	+	0	6	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	2					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)			TACATATGGGGATGGTGAGAC	0.418000														73			8		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71092047	71092047	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71092047G>A	uc001swi.2	-	7	1691	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L	PTPRR_uc001swh.2_Missense_Mutation_p.P181L|PTPRR_uc009zrs.3_Missense_Mutation_p.P220L|PTPRR_uc010stq.2_Missense_Mutation_p.P314L|PTPRR_uc010str.1_Missense_Mutation_p.P275L	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	426	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)		AAGCTTACTTGGTAAAATGGT	0.368000														35			5		0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155172641	155172641	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155172641G>A	uc001fix.3	-	7	1024	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Silent_p.L187L|THBS3_uc009wqi.3_Silent_p.L298L|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	307	EGF-like 1.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			TTGCCCTGCAGGCCAGGGGGG	0.627000														64			5		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46766267	46766267	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:46766267C>T	uc002eei.4	-	3	1431	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	MYLK3_uc010vge.2_Missense_Mutation_p.E98K|MYLK3_uc002eej.1_Missense_Mutation_p.E98K	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	439					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCCCCAACCTCGTGGTCATTG	0.672000														115			27		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505767	228505767	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228505767G>A	uc009xez.1	+	52	14068	c.14024G>A	c.(14023-14025)gGt>gAt	p.G4675D	OBSCN_uc001hsn.3_Missense_Mutation_p.G4675D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4675	Ig-like 47.				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)				GTCTCCCAGGGTCGGCAACAG	0.642000														134			5		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612204	189612204	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189612204C>T	uc003fry.2	+	13	2045	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.F558F|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.F473F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	652	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)		CCATCTCTTTCCCACCCCGAG	0.562000										HNSCC(45;0.13)				100			6		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205386	81205386	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81205386C>T	uc001szj.1	-	4	753	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	187	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGGGGTGTATCGCACCACCAG	0.483000														44			4		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830466	61830466	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61830466G>A	uc001jky.3	-	36	10511	c.10173C>T	c.(10171-10173)tcC>tcT	p.S3391S	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.	3391					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						ACTCTGTGATGGACTGGTCGT	0.458000														81			4		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905007	15905007	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15905007G>A	uc010xos.2	+	0	149	c.149G>A	c.(148-150)tGg>tAg	p.W50*		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GCCACTGTCTGGAGCGAGCGC	0.602000														85			15		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:137814764C>T	uc002tva.1	+	1	821	c.821C>T	c.(820-822)tCg>tTg	p.S274L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S164L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363000														24			5		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156837963	156837963	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:156837963G>A	uc001fqh.1	+	4	552	c.496G>A	c.(496-498)Gga>Aga	p.G166R	NTRK1_uc001fqf.1_Missense_Mutation_p.G136R|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.G166R|NTRK1_uc009wsk.1_Missense_Mutation_p.G166R	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	166	LRRCT.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGAGGAGGAGGGACTGGGCGG	0.652000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				47			12		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957724	49957724	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:49957724G>A	uc004dow.1	-	4	1764	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F	AKAP4_uc004dou.1_Missense_Mutation_p.S538F|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S369F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	547					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTAAGGGCAGAGACAATCAG	0.473000														36			16		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183853958	183853958	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:183853958C>T	uc001gqm.3	+	7	1403	c.942C>T	c.(940-942)acC>acT	p.T314T	RGL1_uc010pof.1_Silent_p.T84T|RGL1_uc010pog.2_Silent_p.T277T|RGL1_uc010poh.2_Silent_p.T277T|RGL1_uc001gqo.3_Silent_p.T279T|RGL1_uc010poi.2_Silent_p.T279T	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	279	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCCGTGCCACCATCTCTCAGT	0.473000														70			4		0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123659	50123659	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:50123659G>A	uc001vde.1	-	8	1241	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	327					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GTCGGTGCAGGAGAAGTGGGT	0.642000														45			4		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364552	29364552	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29364552T>A	uc003nmf.4	+	0	137	c.76T>A	c.(76-78)Ttc>Atc	p.F26I		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GCCTTTTCTCTTCGTGGTTTT	0.428000														130			28		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33016187	33016187	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:33016187C>T	uc001wrq.3	+	3	2498	c.2328C>T	c.(2326-2328)gcC>gcT	p.A776A	AKAP6_uc010aml.3_Silent_p.A773A	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	776					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACTATGAAGCCATATGGGAAA	0.393000														81			5		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25207321	25207321	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:25207321C>T	uc001ywu.3	+	1	201	c.75C>T	c.(73-75)gtC>gtT	p.V25V	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_5'UTR|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding	p.G24V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AAGTCCAAGTCAAACGCAGAA	0.448000									Prader-Willi syndrome					47			7		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386323	56386323	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56386323G>A	uc002ivx.4	-	21	5181	c.4310C>T	c.(4309-4311)cCc>cTc	p.P1437L	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1377L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1437L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1437						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAGGCCTGGGGCCCATTGTT	0.687000														88			14		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117962814	117962814	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:117962814C>T	uc001two.2	-	13	2030	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	688					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)					ATGGCCACCTCGCCATGCCAG	0.597000														29			3		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143779	56143779	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56143779G>A	uc001nit.2	+	0	680	c.680G>A	c.(679-681)aGg>aAg	p.R227K		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GCCATCCTGAGGATGCATTCA	0.453000														66			10		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191635	66191635	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66191635C>T	uc001ohx.1	+	6	1450	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L	NPAS4_uc010rpc.1_Missense_Mutation_p.P215L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	425					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						TGCACTCCACCTTACACGCCC	0.552000														165			16		0	0	1	0	0
TMEM99	147184	broad.mit.edu	37	17	38990992	38990992	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:38990992C>T	uc021txc.1	+	2	523	c.224C>T	c.(223-225)tCc>tTc	p.S75F	TMEM99_uc002hvj.1_Missense_Mutation_p.S75F|TMEM99_uc021txd.1_Missense_Mutation_p.S75F|TMEM99_uc021txe.1_Missense_Mutation_p.S75F	NM_001195387	NP_001182316	Q8N816	TMM99_HUMAN	Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA.	75						integral to membrane		p.S75T(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GAGTTATTTTCCTTTCTTCGC	0.483000														138			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720751	140720751	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140720751C>T	uc003ljk.2	+	0	2398	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.S738L|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	736					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)			ATGCAGAGCTCGCACTTTGTG	0.632000														85			8		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130777904	130777904	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:130777904C>T	uc003ysr.3	-	3	1422	c.540G>A	c.(538-540)ggG>ggA	p.G180G		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	180						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAGCAATTTTCCCTAAAATAT	0.438000														81			5		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71417914	71417914	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:71417914C>T	uc002faa.4	+	6	599	c.519C>T	c.(517-519)ctC>ctT	p.L173L	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Silent_p.L173L	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	173	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AATTGGGCCTCTCAGAGATGT	0.527000														96			10		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649300	51649300	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51649300G>A	uc002pvv.1	+	3	1018	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	SIGLEC7_uc002pvw.1_Missense_Mutation_p.E224K|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	317	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGATGAAGGGGAATTCACCTG	0.597000														84			10		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414349	20414349	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:20414349G>A	uc003zoe.2	-	4	754	c.495C>T	c.(493-495)agC>agT	p.S165S	MLLT3_uc011lne.1_Silent_p.S133S|MLLT3_uc011lnf.1_Silent_p.S162S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	165	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctactgctgctgctgctgc	0.532000			T	MLL	ALL									35			4		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084440	66084440	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66084440G>A	uc001ohm.1	-	0	76	c.59C>T	c.(58-60)cCc>cTc	p.P20L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	20						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)	AGCAGCCCAGGGGTCCTGGCC	0.771000														9			3		0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5496317	5496317	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:5496317C>T	uc001iia.3	+	8	996	c.858C>T	c.(856-858)gtC>gtT	p.V286V	NET1_uc010qar.2_Silent_p.V105V|NET1_uc001iib.3_Silent_p.V232V|NET1_uc010qas.2_Silent_p.V105V	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	286	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						ATCCAAGAGTCCAAGACTTCC	0.463000														44			11		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382656	22382656	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:22382656T>C	uc001yuc.1	+	6	1165	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.F62L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	62					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)		CCTCTATTTATTTCTGGGCAA	0.458000														172			7		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473201	53473201	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53473201G>A	uc002qan.4	-	3		c.1300C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		ACATTTGTACGGTTTCTCTCC	0.388000														55			12		0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692677	121692677	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:121692677T>C	uc001leu.2	+	16	3129	c.2919T>C	c.(2917-2919)taT>taC	p.Y973Y	SEC23IP_uc010qtc.2_Silent_p.Y762Y|SEC23IP_uc009xzk.2_Non-coding_Transcript	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	973	DDHD.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTTATGCTATTGGTAAGTGT	0.368000														62			12		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111342546	111342546	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:111342546C>T	uc001trv.1	+	10	1692	c.1497C>T	c.(1495-1497)gtC>gtT	p.V499V	CCDC63_uc010sye.1_Silent_p.V459V|CCDC63_uc001trw.1_Silent_p.V414V	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	499										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCATCAAAGTCATCCCCCCAG	0.587000														61			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166324	140166324	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140166324C>T	uc003lhb.2	+	0	449	c.449C>T	c.(448-450)tCg>tTg	p.S150L	PCDHAC2_uc003lha.2_Missense_Mutation_p.S150L|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S150L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	165	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R150Q(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)			CTCCTGAATTCGCGTTTTCCG	0.443000														81			11		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828608	18828608	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18828608G>A	uc001ipr.2	+	13	1998	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	CACNB2_uc001ipt.2_Silent_p.R608R|CACNB2_uc009xjz.1_Silent_p.R396R|CACNB2_uc001ips.2_Silent_p.R622R|CACNB2_uc001ipu.3_Silent_p.R618R|CACNB2_uc001ipv.3_Silent_p.R594R|CACNB2_uc009xka.2_Silent_p.R580R|CACNB2_uc001ipw.2_Silent_p.R553R|CACNB2_uc001ipx.2_Silent_p.R591R|CACNB2_uc001ipz.2_Silent_p.R568R|CACNB2_uc001ipy.2_Silent_p.R592R|CACNB2_uc010qco.1_Silent_p.R560R|CACNB2_uc001iqa.2_Silent_p.R598R|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	646					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAAAAACGGAATGAGGCTG	0.423000														71			17		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100229530	100229530	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100229530G>A	uc003uvv.1	-	7	1074	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.F164F	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	335					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)					TGAAGGAAGGGAAGCCAGGTG	0.582000														69			6		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51834628	51834628	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51834628G>A	uc010ufy.2	-	8	1232	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	DMXL2_uc002abf.3_Missense_Mutation_p.P336L|DMXL2_uc010bfa.3_Missense_Mutation_p.P336L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	336						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)		TGTCTGGTCGGGCATTAATTC	0.398000														41			3		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864514	13864514	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13864514C>T	uc003jfd.2	-	27	4630	c.4588G>A	c.(4588-4590)Gaa>Aaa	p.E1530K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1530	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTCTATTTCCTCTTTATAT	0.383000									Kartagener syndrome					46			15		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77797366	77797366	+	Silent	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:77797366T>G	uc003ugx.3	-	14	2717	c.2463A>C	c.(2461-2463)ccA>ccC	p.P821P	MAGI2_uc003ugy.3_Silent_p.P807P|MAGI2_uc010ldx.1_Silent_p.P414P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	821	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCTCATCTCCTGGGTGAAGGC	0.522000														78			24		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920056	4920056	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:4920056C>T	uc001qng.3	+	0	1715	c.849C>T	c.(847-849)tcC>tcT	p.S283S	KCNA6_uc021qtr.1_Silent_p.S283S	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	283						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGCGCTTCTCCGCCTGCCCTA	0.547000										HNSCC(72;0.22)				93			12		0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105904035	105904035	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:105904035C>G	uc003vdq.3	-	6	1080	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	NAMPT_uc003vdr.1_Missense_Mutation_p.E258Q|NAMPT_uc011klu.1_Missense_Mutation_p.E171Q	NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	258					NAD biosynthetic process|cell-cell signaling|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCATCTTTTTCATGGTCTTTC	0.358000														104			6		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471044	76471044	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:76471044G>A	uc003yaq.3	+	8	1024	c.754G>A	c.(754-756)Ggg>Agg	p.G252R	HNF4G_uc003yar.3_Missense_Mutation_p.G289R	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	252					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGATGCAAAAGGGCTAAGCGA	0.383000														34			8		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544614	115544614	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:115544614G>A	uc003ibs.2	+	1	1100	c.578G>A	c.(577-579)aGg>aAg	p.R193K	UGT8_uc003ibt.2_Missense_Mutation_p.R193K|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	193					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTGCTGCAAAGGATGAAAAAT	0.468000														64			9		0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47984043	47984043	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:47984043G>A	uc002pgy.3	-	5	677	c.573C>T	c.(571-573)ttC>ttT	p.F191F	KPTN_uc010xys.2_Non-coding_Transcript	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	191					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	p.L190L(1)		breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCAGCTCTGGGAAGAGGTTTT	0.597000														181			16		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48692794	48692794	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:48692794G>A	uc003cuf.1	-	6	4985	c.4985C>T	c.(4984-4986)cCa>cTa	p.P1662L	CELSR3_uc003cul.3_Missense_Mutation_p.P1592L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1592	Laminin G-like 1.				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)		CAAGCCCCCTGGAACTGTGGG	0.577000														41			6		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584723	138584723	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:138584723G>A	uc003qhu.3	+	11	2274	c.2103G>A	c.(2101-2103)caG>caA	p.Q701Q		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	701	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCGCTCTGCAGAACTTTGCCT	0.493000														75			9		0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878049	76878049	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:76878049G>A	uc001dhh.2	+	2	733	c.570G>A	c.(568-570)gaG>gaA	p.E190E	ST6GALNAC3_uc001dhg.4_Silent_p.E190E|ST6GALNAC3_uc010orh.1_Silent_p.E125E	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	190					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGACCACAGAGAAGCGCATGA	0.408000														54			4		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016288	106016288	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:106016288C>T	uc004eml.3	+	1	880	c.630C>T	c.(628-630)ttC>ttT	p.F210F	RNF128_uc004emk.3_Silent_p.F184F	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	210						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAATTTTTTTCGTTTCTGTGT	0.393000														42			14		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88144664	88144664	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:88144664C>T	uc003plv.3	+	10	1510	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	SLC35A1_uc003plx.3_5'Flank|C6orf165_uc003plu.2_Missense_Mutation_p.P463S|C6orf165_uc003plw.3_Missense_Mutation_p.P275S|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	463										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCAGAAAATCCTGAACATTA	0.259000														27			3		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35640208	35640208	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:35640208G>A	uc002hnm.3	-	4	650	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ACACA_uc002hnk.3_Silent_p.F75F|ACACA_uc002hnl.3_Silent_p.F95F|ACACA_uc002hnn.3_Silent_p.F153F|ACACA_uc002hno.3_Silent_p.F190F|ACACA_uc010cuz.3_Silent_p.F153F|ACACA_uc002hnq.2_Silent_p.F75F	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	153	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATGACAACGAATCTAATTG	0.413000														40			4		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93605266	93605266	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:93605266G>A	uc003drb.4	-	10	1578	c.1237C>T	c.(1237-1239)Ctt>Ttt	p.L413F	PROS1_uc010hoo.3_Missense_Mutation_p.L282F|PROS1_uc003dqz.4_Missense_Mutation_p.L282F	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	413	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	p.L413I(2)		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)	GGCTTAAAAAGGGGTCCAGGT	0.363000														141			33		0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99416653	99416653	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:99416653C>T	uc001kog.1	+	3	901	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	PI4K2A_uc010qoy.1_Missense_Mutation_p.L252F|PI4K2A_uc009xvw.1_Silent_p.L13L	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	282	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGCAGAACCTCTTCCTGAGAA	0.512000														119			22		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808564	48808564	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:48808564C>T	uc002rwp.2	+	1	906	c.792C>T	c.(790-792)ccC>ccT	p.P264P	STON1-GTF2A1L_uc021vhf.1_Silent_p.P264P|STON1-GTF2A1L_uc002rwo.4_Silent_p.P264P|STON1-GTF2A1L_uc010fbm.3_Silent_p.P264P|STON1-GTF2A1L_uc010yol.2_Silent_p.P264P	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	264					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTTTGTCCCCCACACACTCT	0.453000														49			6		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31086609	31086609	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:31086609C>T	uc009yjk.1	-	6	803	c.734G>A	c.(733-735)tGg>tAg	p.W245*	DCDC5_uc009yjl.1_Nonsense_Mutation_p.W173*|DCDC5_uc001msu.2_Nonsense_Mutation_p.W416*	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	288					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AGCTGTGGTCCAGGCACCATG	0.443000														30			5		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97194206	97194206	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:97194206G>A	uc010how.1	+	7	1948	c.1905G>A	c.(1903-1905)atG>atA	p.M635I	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.M1I|EPHA6_uc003drs.4_Missense_Mutation_p.M27I|EPHA6_uc003drr.4_Missense_Mutation_p.M27I|EPHA6_uc003drt.3_Missense_Mutation_p.M27I|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	540	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTTCTGACATGGCAGCAGAAC	0.403000														22			6		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113856811	113856811	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:113856811G>A	uc010rxb.2	+	5	870	c.637G>A	c.(637-639)Gga>Aga	p.G213R	HTR3A_uc010rxa.2_Missense_Mutation_p.G213R|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.G192R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	207					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CATGAACCAGGGAGAGTGGGA	0.493000														227			19		0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128398930	128398930	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:128398930C>T	uc022ald.1	+	4	1388	c.445C>T	c.(445-447)Cca>Tca	p.P149S	CALU_uc022alg.1_Missense_Mutation_p.P67S|CALU_uc022alh.1_Missense_Mutation_p.P67S|CALU_uc022ali.1_5'UTR|CALU_uc003vns.3_Missense_Mutation_p.P141S|CALU_uc003vnr.3_Missense_Mutation_p.P149S|CALU_uc003vnq.3_Missense_Mutation_p.P141S|CALU_uc022ale.1_Missense_Mutation_p.P141S|CALU_uc022alf.1_5'UTR	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	141					platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TCTAGATGATCCAGATCCTGA	0.363000														137			6		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284313	33284313	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33284313G>A	uc003oeb.3	-	1	533	c.381C>T	c.(379-381)ttC>ttT	p.F127F	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Silent_p.F127F|ZBTB22_uc021ywm.1_Silent_p.F127F	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCACTGTAAGGAAGTTGACAA	0.572000														144			22		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58011877	58011877	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:58011877G>A	uc002emv.4	+	1	359	c.322G>A	c.(322-324)Gac>Aac	p.D108N	TEPP_uc002emw.4_Missense_Mutation_p.D108N	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	108						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GCGCCACATGGACAGGGACAC	0.642000														38			7		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399477	46399477	+	Silent	SNP	G	A	A	rs145700287	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:46399477G>A	uc003cpn.4	+	1	944	c.459G>A	c.(457-459)acG>acA	p.T153T	CCR2_uc003cpm.4_Silent_p.T153T|CCR2_uc021wxa.1_Silent_p.T153T	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	153					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AAGCCAGGACGGTCACCTTTG	0.453000														224			58		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111020119	111020119	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:111020119C>T	uc004epl.1	-	10	3263	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	782					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						TCATTATTATCGTCTCTCTGA	0.468000														163			52		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091661	9091661	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9091661C>T	uc002mkp.3	-	0	358	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	52	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						AGAGTATGTTCTGTCACCACG	0.522000														44			12		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768239	31768239	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31768239G>A	uc002nsy.4	-	1	2525	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	820					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R819L(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTCACCGTGGATGAGGAGG	0.522000														57			4		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107840617	107840617	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107840617G>A	uc022ccg.1	+	23	1800	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	COL4A5_uc004enz.1_Missense_Mutation_p.G533E|COL4A5_uc004eob.1_Missense_Mutation_p.G141E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	533	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCATTCCAGGAGCTCCAGGT	0.403000									Alport syndrome with Diffuse Leiomyomatosis					35			6		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982983	57982983	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57982983C>T	uc010rkc.2	+	0	767	c.767C>T	c.(766-768)tCt>tTt	p.S256F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ACTTGTGGCTCTCACCTGACA	0.483000														59			5		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13279627	13279627	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:13279627G>A	uc010gce.1	+	5	922	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	306	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTGCAAAAGCGAGTTCTTAAA	0.562000														38			3		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151804202	151804202	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:151804202C>T	uc001ezh.3	-	1	148	c.40_splice	c.e1+1	p.E14_splice	RORC_uc010pdo.2_Splice_Site|RORC_uc010pdp.2_Splice_Site_p.E14_splice	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	14	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTTACCCCGTGAGGCTC	0.662000														129			8		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561099	41561099	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:41561099C>T	uc002yyq.1	-	11	2875	c.2423G>A	c.(2422-2424)aGc>aAc	p.S808N	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.	808	Ig-like C2-type 9.				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)				CGCCGTGCAGCTCATCTCCTT	0.507000														78			19		0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48941183	48941183	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48941183G>A	uc002isw.3	-	1	639	c.196C>T	c.(196-198)Cca>Tca	p.P66S	TOB1_uc021uac.1_5'UTR|TOB1_uc010wmz.2_Missense_Mutation_p.P66S|TOB1_uc021uad.1_Missense_Mutation_p.P66S|LOC400604_uc002isy.3_5'Flank	NM_005749	NP_005740	P50616	TOB1_HUMAN	Homo sapiens transducer of ERBB2, 1 (TOB1), transcript variant 1, mRNA.	66					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCAATCACTGGGTCCACTTTC	0.433000														131			10		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82436122	82436122	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82436122G>A	uc001dit.4	+	14	2988	c.2807G>A	c.(2806-2808)aGg>aAg	p.R936K	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R936K|LPHN2_uc001div.3_Missense_Mutation_p.R936K|LPHN2_uc009wcd.3_Missense_Mutation_p.R936K|LPHN2_uc001diw.3_Missense_Mutation_p.R520K|LPHN2_uc009wce.1_Missense_Mutation_p.R22K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	949					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)		GAATATTCAAGGAAAAAATAT	0.378000														67			15		0	0	1	0	0
GNPDA2	132789	broad.mit.edu	37	4	44713037	44713037	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:44713037C>T	uc003gwy.3	-	4	684	c.527G>A	c.(526-528)gGa>gAa	p.G176E	GNPDA2_uc010iga.3_Missense_Mutation_p.G142E|GNPDA2_uc011bzb.2_Missense_Mutation_p.G106E|GNPDA2_uc003gwz.1_Missense_Mutation_p.G176E	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	176					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TGATAAATCTCCATCAAAATA	0.388000														62			11		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10568644	10568644	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10568644C>T	uc002moj.2	+	7	1075	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S	PDE4A_uc021uow.1_Missense_Mutation_p.P301S|PDE4A_uc002mok.2_Missense_Mutation_p.P297S|PDE4A_uc002mol.2_Missense_Mutation_p.P262S|PDE4A_uc002mom.2_Missense_Mutation_p.P84S|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	323					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCAGCCGCCCCCGCCCCCTGT	0.517000														73			15		0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111303384	111303384	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:111303384A>G	uc001vrd.2	-	9	1091	c.1051T>C	c.(1051-1053)Tca>Cca	p.S351P	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	351					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GGCTCACCTGAGCGGTAGCTG	0.562000														82			7		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216570	10216570	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10216570C>T	uc002gmk.1	-	29	4176	c.4086G>A	c.(4084-4086)caG>caA	p.Q1362Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1362					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGCGCCCTCTGCAGCTCGG	0.632000														148			15		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149822	18149822	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:18149822G>A	uc001bat.3	+	1	535	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	107						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACCCTTGAGGGAGCCTGCGGA	0.597000														54			13		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105143	42105143	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42105143C>T	uc001zok.4	+	7	949	c.663C>T	c.(661-663)ggC>ggT	p.G221G	MAPKBP1_uc010bci.3_Silent_p.G221G|MAPKBP1_uc010udb.2_Silent_p.G109G|MAPKBP1_uc001zoj.4_Silent_p.G221G|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	221										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCTTGCTGGGCCGCTCAGGGC	0.592000														61			10		0	0	1	0	0
CGB1	114335	broad.mit.edu	37	19	49538906	49538906	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49538906G>A	uc002plx.3	-	2	652	c.429C>T	c.(427-429)ccC>ccT	p.P143P	SNAR-G1_uc010emp.1_5'Flank	NM_033377	NP_203695	A6NKQ9	CGB1_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 1 (CGB1), mRNA.	175						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAAGGCTGGGGGGAGGGGCCT	0.627000														89			17		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455518	19455518	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19455518G>A	uc002dgc.4	+	3	1653	c.904G>A	c.(904-906)Gag>Aag	p.E302K	TMC5_uc010vaq.2_Missense_Mutation_p.E302K|TMC5_uc002dgb.4_Missense_Mutation_p.E302K|TMC5_uc010var.2_Missense_Mutation_p.E302K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	302						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						GGCATCCATGGAGATGGCAAA	0.483000														68			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140752182	140752182	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140752182C>T	uc003ljw.2	+	0	2221	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.P741S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	757					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)			TGGAGTTCTCCCCACCTACAG	0.502000														37			6		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57946980	57946980	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57946980G>A	uc021qjm.1	+	0	64	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	OR9Q1_uc001nmj.3_Missense_Mutation_p.E22K	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E22K(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGAATATCCTGAATGGGCACT	0.453000														98			9		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146708079	146708079	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:146708079G>A	uc010khw.1	+	6	2126	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	GRM1_uc010khv.1_Silent_p.E552E|GRM1_uc003qll.2_Silent_p.E552E|GRM1_uc011edz.1_Silent_p.E552E|GRM1_uc011eea.1_Silent_p.E552E	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	552					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCTGCAAAGAGAATGAATATG	0.423000														90			14		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915202	176915202	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176915202C>T	uc001glc.3	-	12	2321	c.2109G>A	c.(2107-2109)acG>acA	p.T703T	ASTN1_uc001glb.1_Silent_p.T703T|ASTN1_uc001gld.1_Silent_p.T703T|ASTN1_uc009wwx.1_Silent_p.T703T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	711	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACAGGTCTCCGTGATGAGTT	0.498000														72			14		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68207275	68207275	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68207275C>T	uc001ont.3	+	20	4454	c.4379C>T	c.(4378-4380)tCc>tTc	p.S1460F	LRP5_uc009ysg.3_Missense_Mutation_p.S870F	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1460					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.S1460S(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATGAGCTCCGTGAGCCTG	0.682000														19			4		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57931808	57931809	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:57931808_57931809CC>TT	uc002emt.2	-	29	3051_3052	c.2986_2987GG>AA	c.(2986-2988)ggc>AAc	p.G996N	CNGB1_uc010cdh.2_Missense_Mutation_p.G990N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	996					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						CATCTCACGGCCGATCTCCCCC	0.569000														127			10		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829573	57829573	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57829573C>T	uc002yan.3	+	4	4809	c.4809C>T	c.(4807-4809)gtC>gtT	p.V1603V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1603						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAATGACTGTCCCCTGCCCCT	0.502000														101			11		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28914391	28914391	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:28914391G>A	uc002dro.1	+	19	2969	c.2785G>A	c.(2785-2787)Gtg>Atg	p.V929M	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V929M|ATP2A1_uc002drp.1_Missense_Mutation_p.V804M	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	929					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCCACCCTGGGTGAACATCTG	0.632000														124			20		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39521330	39521330	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:39521330A>T	uc003xni.3	+	12	1302	c.1247A>T	c.(1246-1248)aAg>aTg	p.K416M	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.K392M	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	416	Disintegrin.				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)			CAATTTAAGAAGTGCTGTGAT	0.299000														34			6		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21252853	21252853	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21252853G>A	uc002red.3	-	10	1515	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	463	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGTCCAGCAGCTCCTGGGTC	0.428000														88			7		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653460	19653460	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:19653460G>A	uc002ykw.3	-	21	2596	c.2565C>T	c.(2563-2565)gtC>gtT	p.V855V		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	855	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAATCGAGGGACTGTTTGAG	0.383000														122			19		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31091409	31091409	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:31091409G>A	uc003aiy.1	+	0	617	c.513G>A	c.(511-513)acG>acA	p.T171T	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Silent_p.T171T|OSBP2_uc011alb.1_Silent_p.T171T|OSBP2_uc003aiz.1_Silent_p.T171T	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	171					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGACTGGCACGACCTCCAGTG	0.617000														43			13		0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46621989	46621989	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:46621989G>A	uc002inm.3	-	0	405	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	95					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TCATCCAAGGGAACTcggggg	0.692000														51			5		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107257	14107257	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:14107257C>T	uc001avi.3	+	7	3823	c.2967C>T	c.(2965-2967)ctC>ctT	p.L989L	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.L989L|PRDM2_uc021ogk.1_Silent_p.L752L|PRDM2_uc001avk.3_Silent_p.L788L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	989	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCCCTCCCCTCCTTCCTACCG	0.597000														121			5		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71204985	71204985	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:71204985C>T	uc001xmm.3	-	7	1821	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K	MAP3K9_uc010ttk.2_Silent_p.K344K|MAP3K9_uc001xmk.3_Silent_p.K349K|MAP3K9_uc001xml.3_Silent_p.K607K	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	607					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGCAAGCTCCTTCTGACCAA	0.512000														66			12		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97800978	97800978	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:97800978C>T	uc003upd.2	+	6	1076	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	261	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGCTGCACTTCCTGCACAGGT	0.657000														47			10		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77355084	77355084	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:77355084G>A	uc002ffc.4	-	14	2598	c.2179C>T	c.(2179-2181)Cat>Tat	p.H727Y	ADAMTS18_uc010chc.1_Missense_Mutation_p.H315Y|ADAMTS18_uc002ffe.1_Missense_Mutation_p.H423Y	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	727	Cys-rich.				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						CCTAGTTCATGATCACATCCC	0.393000														68			7		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394514	86394514	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:86394514G>A	uc003uid.3	+	1	1152	c.53G>A	c.(52-54)gGa>gAa	p.G18E	GRM3_uc010lef.3_Missense_Mutation_p.G16E|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	18					synaptic transmission	integral to plasma membrane		p.G18E(2)|p.K17N(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTCAAAGGGATTTTTACTC	0.398000														89			16		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149960	242149960	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242149960C>T	uc002wax.2	+	14	1801	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	566						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCTATGTATCCCTGGCCCACG	0.632000														54			6		0	0	1	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461428	10461428	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:10461428C>T	uc021xwo.1	+	4	733	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	ROPN1L_uc003jex.4_Missense_Mutation_p.P184S	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	184					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						AGATGTGTCTCCCTTGGAGAC	0.507000														115			8		0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4500442	4500442	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4500442C>T	uc002cwk.3	+	9	1360	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	DNAJA3_uc002cwl.3_Missense_Mutation_p.A428V|DNAJA3_uc010uxk.2_Missense_Mutation_p.A275V	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	428					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CTGAGCTACGCCGAGGACGAG	0.607000														13			3		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683781	50683781	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:50683781G>A	uc002lfe.2	+	7	1933	c.1317G>A	c.(1315-1317)ttG>ttA	p.L439L	DCC_uc010xdr.1_Silent_p.L287L|DCC_uc010dpf.2_Silent_p.L94L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	439	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCTGTCTTGGTTTCCAGCC	0.532000														167			23		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258330	57258330	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57258330C>T	uc001cym.4	-	1	562	c.156G>A	c.(154-156)ggG>ggA	p.G52G	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.G52G	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	52										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						AGAGGGGTTTCCCATTGGCCA	0.483000														189			26		0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84765138	84765138	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84765138C>T	uc003pkg.4	+	1	291	c.101C>T	c.(100-102)tCc>tTc	p.S34F	MRAP2_uc010kbo.3_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	34					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACCAGTTTCCTTTGAAGGA	0.373000														52			5		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742453	15742453	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:15742453C>T	uc001rcv.2	+	24	3945	c.3475C>T	c.(3475-3477)Cat>Tat	p.H1159Y	PTPRO_uc001rcw.2_Missense_Mutation_p.H1131Y|PTPRO_uc001rcx.2_Missense_Mutation_p.H348Y|PTPRO_uc001rcy.2_Missense_Mutation_p.H348Y|PTPRO_uc001rcz.2_Missense_Mutation_p.H320Y|PTPRO_uc001rda.2_Missense_Mutation_p.H320Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1159	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H1159P(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATTCGGGATCATGAGTTTGT	0.443000														88			6		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889999	55889999	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55889999C>T	uc001nii.1	+	0	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R51L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTGATAATCCGCCTGGACCT	0.438000														190			23		0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111915908	111915908	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:111915908T>C	uc001pmo.3	+	8	1903	c.1244T>C	c.(1243-1245)gTt>gCt	p.V415A	DLAT_uc010rwr.2_Missense_Mutation_p.V288A|DLAT_uc021qqn.1_Missense_Mutation_p.V359A	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	415					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ATGGCACCAGTTCCTACAGGT	0.468000														146			26		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345955	100345955	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100345955C>T	uc003uwj.3	+	10	1276	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	ZAN_uc003uwk.3_Missense_Mutation_p.P371S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	371	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGAGGGTTTTCCTCAGTGTGA	0.562000														49			15		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829535	57829535	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57829535C>T	uc002yan.3	+	4	4771	c.4771C>T	c.(4771-4773)Cct>Tct	p.P1591S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1591						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACGTTTTTTCCTTCCAGAGG	0.478000														83			24		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85343111	85343111	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:85343111C>T	uc002bld.3	+	9	3512	c.3176C>T	c.(3175-3177)tCc>tTc	p.S1059F	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	1059					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCGGCCCTCCCTTCTGGAG	0.587000														86			23		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617668	77617668	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77617668A>G	uc003yau.2	+	1	1732	c.1345A>G	c.(1345-1347)Aaa>Gaa	p.K449E	ZFHX4_uc003yat.1_Missense_Mutation_p.K449E|ZFHX4_uc003yaw.1_Missense_Mutation_p.K449E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	449						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)			TGAAAGGCCAAAAGAAAGCAA	0.483000										HNSCC(33;0.089)				27			3		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712524	121712524	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712524G>A	uc003ees.3	-	6	1275	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	ILDR1_uc003eeq.3_Missense_Mutation_p.P326S|ILDR1_uc003eer.3_Missense_Mutation_p.P314S|ILDR1_uc010hrg.3_Missense_Mutation_p.P269S	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	358						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGCCTGGAGGGAATTGGGGTG	0.602000														52			5		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71300833	71300833	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:71300833C>T	uc010ukf.2	+	11	1606	c.1300C>T	c.(1300-1302)Ctg>Ttg	p.L434L	LRRC49_uc002asu.3_Silent_p.L419L|LRRC49_uc002asx.3_Silent_p.L385L|LRRC49_uc002asw.3_Silent_p.L429L|LRRC49_uc002asy.3_Silent_p.L135L|LRRC49_uc002asz.3_Silent_p.L401L	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	429						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACTGGAATCTCTGGATAGGAA	0.413000														27			4		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67293376	67293376	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:67293376A>G	uc002jif.2	-	8	2610	c.1392T>C	c.(1390-1392)atT>atC	p.I464I	ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Silent_p.I464I|ABCA5_uc002jih.2_Silent_p.I464I|ABCA5_uc010dfe.2_Silent_p.I464I	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	464					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGGCTCAATAATTTCACTAA	0.313000														47			6		0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409714	47409714	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:47409714C>T	uc010acr.3	-	3	1363	c.674G>A	c.(673-675)gGg>gAg	p.G225E	HTR2A_uc001vbr.3_Missense_Mutation_p.G141E	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	225					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TAAGCAACTCCCCTCCTTAAA	0.408000														52			8		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418823	113418823	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:113418823G>A	uc003ynu.3	-	34	5898	c.5739C>T	c.(5737-5739)tcC>tcT	p.S1913S	CSMD3_uc003yns.3_Silent_p.S1115S|CSMD3_uc003ynt.3_Silent_p.S1873S|CSMD3_uc011lhx.2_Silent_p.S1809S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1913	Sushi 10.					integral to membrane|plasma membrane		p.G1912V(1)|p.G1912L(1)|p.G1912*(1)		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						TAATTGCTATGGATCCATGGA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				63			11		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156964930	156964930	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156964930C>T	uc003lwz.3	-	3	400	c.321G>A	c.(319-321)cgG>cgA	p.R107R	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Silent_p.R38R	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	107					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.T106T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCAATTTCCGTGTGGTGG	0.453000														56			4		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86869513	86869513	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:86869513G>A	uc004efa.2	+	2	849	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	KLHL4_uc004efb.2_Missense_Mutation_p.V223I	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	223	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACAAGAAGAGGTCAGGATGGA	0.398000														25			6		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929070	51929070	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:51929070G>A	uc003dbv.3	-	3	552	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	152	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGATGATGCGAACAGCATTG	0.612000														87			8		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102641	61102641	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:61102641C>T	uc001vhz.4	+	10	1791	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	TDRD3_uc010aef.2_Missense_Mutation_p.R160C|TDRD3_uc001via.3_Missense_Mutation_p.R335C|TDRD3_uc010aeg.3_Missense_Mutation_p.R428C|TDRD3_uc001vib.4_Missense_Mutation_p.R334C	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	335					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAAACCGCCTCGTTTTCAAAG	0.383000														72			8		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027310	55027310	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:55027310G>A	uc002lgn.3	+	3	1302	c.945G>A	c.(943-945)gaG>gaA	p.E315E		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	315					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TATGTGAAGAGATCCACTTGT	0.403000														31			6		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657293	40657293	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40657293C>T	uc002rrx.3	-	0	152	c.128G>A	c.(127-129)gGa>gAa	p.G43E	SLC8A1_uc002rry.3_Missense_Mutation_p.G43E|SLC8A1_uc002rsb.2_Missense_Mutation_p.G43E|SLC8A1_uc002rrz.3_Missense_Mutation_p.G43E|SLC8A1_uc002rsa.3_Missense_Mutation_p.G43E|SLC8A1_uc002rsd.4_Missense_Mutation_p.G43E|SLC8A1_uc010fan.1_Missense_Mutation_p.G43E|SLC8A1_uc002rsc.1_Missense_Mutation_p.G43E	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	43					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTTCATTTCCTTCTCCTTC	0.413000														91			4		0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348477	103348477	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:103348477G>A	uc004bba.3	+	1	929	c.839G>A	c.(838-840)cGa>cAa	p.R280Q		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	Homo sapiens muscle-related coiled-coil protein (MURC), mRNA.	280					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GGTAAGGACCGAACAGTGGCT	0.517000														77			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286458	152286458	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152286458C>T	uc001ezu.1	-	2	940	c.904G>A	c.(904-906)Gac>Aac	p.D302N	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	302	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)			CCCTCACTGTCCCTGTCCTGG	0.522000									Ichthyosis					245			58		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364110	5364110	+	Silent	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5364110G>T	uc001map.1	-	0	645	c.645C>A	c.(643-645)tcC>tcA	p.S215S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.S215S	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAACACATAGGAGATGAAGA	0.463000														112			7		2.0095e-06	2.02634e-06	1	1	0
LOC442459	442459	broad.mit.edu	37	X	98974485	98974485	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:98974485C>T	uc011mrd.1	-	7		c.1858G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		TCTTCAGCTCCTCTTCTGAAT	0.473000														21			4		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869721	4869721	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4869721C>T	uc010qyo.2	-	0	718	c.718G>A	c.(718-720)Gat>Aat	p.D240N		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCAGCGATCCTCTCTGGAC	0.517000														56			11		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8166505	8166505	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:8166505C>T	uc002gkr.3	+	12	1630	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	PFAS_uc010vuv.2_Missense_Mutation_p.R73C|PFAS_uc010cnw.1_Missense_Mutation_p.R51C|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	497					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAGATGAACCGTGTGATCAG	0.567000														102			20		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109745	98109745	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:98109745C>T	uc011bgw.2	+	0	236	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GCTATTACTCCCAAGATGTTA	0.388000														215			62		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19032967	19032967	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19032967G>A	uc002dfp.2	+	3	607	c.477G>A	c.(475-477)ggG>ggA	p.G159G	TMC7_uc010vao.1_Silent_p.G159G|TMC7_uc002dfq.3_Silent_p.G159G|TMC7_uc010vap.2_Silent_p.G49G	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	159						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						TTGGCACTGGGATTCAGTCCT	0.418000														77			9		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566234	155566234	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:155566234C>T	uc002tyv.1	+	1	1017	c.822C>T	c.(820-822)atC>atT	p.I274I	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Silent_p.I274I	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	274					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCCACGTGATCGATGCCAAAA	0.473000														53			18		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107815055	107815055	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107815055C>T	uc022ccg.1	+	7	655	c.453C>T	c.(451-453)atC>atT	p.I151I	COL4A5_uc004enz.1_Silent_p.I151I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	151	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCCTGGGATCCCAGGTATGA	0.343000									Alport syndrome with Diffuse Leiomyomatosis					26			13		0	0	1	0	0
C1orf96	126731	broad.mit.edu	37	1	229462600	229462600	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:229462600G>A	uc001htl.4	-	2	599	c.521C>T	c.(520-522)tCg>tTg	p.S174L	C1orf96_uc009xfc.3_Non-coding_Transcript	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN	Homo sapiens chromosome 1 open reading frame 96 (C1orf96), mRNA.	174						centrosome				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TATTTTACTCGATGATCTTTG	0.463000														135			11		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6224994	6224994	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:6224994G>A	uc003mwv.3	-	6	1021	c.898C>T	c.(898-900)Cta>Tta	p.L300L	F13A1_uc011dib.2_Silent_p.L237L	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	300					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TATTCCAATAGAATGTCAACG	0.488000														123			8		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020545	56020545	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56020545G>A	uc010rjd.2	+	0	870	c.870G>A	c.(868-870)atG>atA	p.M290I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M290I(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCAGTTATATGAGACCAAGTT	0.403000														69			12		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475590	42475590	+	Silent	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42475590G>T	uc002igw.2	-	7	4074	c.3855C>A	c.(3853-3855)ccC>ccA	p.P1285P	GPATCH8_uc002igv.2_Silent_p.P1207P|GPATCH8_uc010wiz.2_Silent_p.P1207P	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1285						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GATCCCCACTGGGAGGTGCAT	0.582000														153			9		0.000274275	0.000275626	1	1	0
ABCB11	8647	broad.mit.edu	37	2	169792783	169792783	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169792783C>T	uc002ueo.1	-	21	2897	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	ABCB11_uc010zda.1_Missense_Mutation_p.G366E|ABCB11_uc010zdb.1_Missense_Mutation_p.G400E	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	924	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGAGGCAAATCCTGTCAACAT	0.493000														39			10		0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190967872	190967872	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:190967872C>T	uc011bsn.2	+	2	364	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_198184	NP_937827	P61366	OSTN_HUMAN	Homo sapiens osteocrin (OSTN), mRNA.	122					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CCCCATGGATCGGATTGGTAG	0.353000														62			27		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361587	105361587	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:105361587G>A	uc003ylx.1	+	1	856	c.807G>A	c.(805-807)ctG>ctA	p.L269L		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	269					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGCTCCCGCTGAATAAGGAGG	0.468000														73			11		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53889421	53889421	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:53889421C>T	uc002acj.2	-	17	3045	c.3003G>A	c.(3001-3003)atG>atA	p.M1001I		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	1001										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CCAAACTCTTCATGTGTTGTT	0.393000														125			23		0	0	1	0	0
UBE2N	7334	broad.mit.edu	37	12	93804643	93804643	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:93804643C>T	uc001tcp.3	-	2	651	c.285G>A	c.(283-285)tgG>tgA	p.W95*		NM_003348	NP_003339	P61088	UBE2N_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N (UBE2N), mRNA.	95					DNA double-strand break processing|MyD88-dependent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|positive regulation of DNA repair|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of histone modification|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	UBC13-MMS2 complex|UBC13-UEV1A complex|cytosol|nucleus|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						GTGCTGGGGACCACTTATCTA	0.483000								Direct reversal of damage;Rad6 pathway						63			6		0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1444893	1444893	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:1444893G>A	uc021tng.1	-	5	595	c.339C>T	c.(337-339)acC>acT	p.T113T	PITPNA_uc021tnf.1_Silent_p.T22T|PITPNA_uc010cjt.3_Intron	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	113					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)		GTTTGTGCCAGGTTTCAATTT	0.443000														26			5		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174856	51174856	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:51174856C>T	uc021tif.1	-	1	1308	c.986G>A	c.(985-987)aGa>aAa	p.R329K	SALL1_uc021tid.1_Missense_Mutation_p.R329K|SALL1_uc021tie.1_Missense_Mutation_p.R426K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	426					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTGCTTTTTCTTTGCTGGGC	0.507000														105			6		0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41621285	41621285	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:41621285A>G	uc003oqq.4	+	4	920	c.713A>G	c.(712-714)gAg>gGg	p.E238G	MDFI_uc010jxn.3_Missense_Mutation_p.E238G	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	238	Cys-rich.				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)			ATCTGCATGGAGTGCTGTGGG	0.677000														137			9		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925877	27925877	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:27925877C>T	uc011dkx.2	+	0	859	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	287					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						CATGCTGAATCCCCTTATATA	0.418000														94			5		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572917	142572917	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142572917C>T	uc003wbx.2	-	9	1352	c.1123_splice	c.e9-1	p.E375_splice	TRPV6_uc003wbw.1_Splice_Site_p.E161_splice|TRPV6_uc010lou.1_Splice_Site_p.E246_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	375					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATGTAGGCTTCCTAATGGGGG	0.532000														60			9		0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	534807	534807	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:534807G>A	uc010cjo.2	-	7	817	c.670C>T	c.(670-672)Cct>Tct	p.P224S	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.P195S|VPS53_uc002frn.2_Missense_Mutation_p.P224S|VPS53_uc002fro.2_Missense_Mutation_p.P26S|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	224					protein transport	Golgi apparatus|endosome membrane		p.K224T(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CCCTGGGAAGGAAACGCTTCT	0.498000														51			10		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38179102	38179102	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:38179102C>T	uc002rqn.2	+	1	870	c.744C>T	c.(742-744)ttC>ttT	p.F248F	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TAAAAGATTTCCTTCATCCTC	0.398000														74			6		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161143531	161143531	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161143531G>A	uc003qtm.4	+	9	1300	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	396	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.G395R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCACAGGAAAGAAGTGTCAGT	0.507000														81			18		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997831	118997831	+	Missense_Mutation	SNP	C	T	T	rs150565427		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:118997831C>T	uc004bjn.3	+	6	3028	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S	PAPPA_uc011lxp.1_Missense_Mutation_p.P578S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	883					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.P883S(2)|p.K882N(1)|p.P883L(1)		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						ACAGTGTAAGCCCCTGAAGTA	0.512000														52			11		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045900	76045900	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:76045900C>T	uc002jud.2	+	3	1357	c.757C>T	c.(757-759)Cca>Tca	p.P253S	TNRC6C_uc002juf.2_Missense_Mutation_p.P253S|TNRC6C_uc002jue.2_Missense_Mutation_p.P253S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	253	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGACTGTCCCCAGGTAACCC	0.507000														79			7		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907327	153907328	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153907327_153907328CC>TT	uc001fdd.1	-	17	3082_3083	c.2681_2682GG>AA	c.(2680-2682)cgg>cAA	p.R894Q		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	894	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgcCGTTCTCTCAA	0.644000														82			6		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585720	189585720	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189585720G>A	uc003fry.2	+	6	1070	c.981G>A	c.(979-981)ctG>ctA	p.L327L	TP63_uc003frx.2_Silent_p.L327L|TP63_uc003frz.2_Silent_p.L327L|TP63_uc010hzc.1_Silent_p.L327L|TP63_uc003fsa.2_Silent_p.L233L|TP63_uc003fsb.2_Silent_p.L233L|TP63_uc003fsc.2_Silent_p.L233L|TP63_uc003fsd.2_Silent_p.L233L|TP63_uc021xir.1_Silent_p.L233L|TP63_uc010hzd.1_Silent_p.L148L|TP63_uc003fse.1_Silent_p.L208L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	327					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)		TTGTTACTCTGGAAACCAGAG	0.403000										HNSCC(45;0.13)				26			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767784	181767784	+	Silent	SNP	C	T	T	rs35105143		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:181767784C>T	uc009wxt.3	+	47	6951	c.6756C>T	c.(6754-6756)ttC>ttT	p.F2252F	CACNA1E_uc001gow.3_Silent_p.F2209F|CACNA1E_uc009wxs.3_Silent_p.F2190F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2252					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCTCACTTTCGAAGCAGCCG	0.642000														22			5		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563428	75563428	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:75563428G>A	uc002fej.1	-	4	1194	c.873C>T	c.(871-873)ttC>ttT	p.F291F	CHST5_uc002fei.3_Silent_p.F285F|CHST5_uc021tlk.1_Silent_p.F285F	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	285					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCCGCGCAGGAAGGGTGGCG	0.716000														91			9		0	0	1	0	0
GUCA2A	2980	broad.mit.edu	37	1	42628612	42628612	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:42628612C>T	uc001chd.1	-	2	325	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_033553	NP_291031	Q02747	GUC2A_HUMAN	Homo sapiens guanylate cyclase activator 2A (guanylin) (GUCA2A), mRNA.	105					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCACAGATTTCACATGTGCCC	0.622000														72			26		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43159890	43159890	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:43159890C>T	uc003xpz.1	+	5	925	c.882C>T	c.(880-882)aaC>aaT	p.N294N	POTEA_uc003xqa.1_Silent_p.N248N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	294										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCAAACAACTCTTCTGGAA	0.333000														75			6		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212694	60212694	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:60212694G>A	uc001xen.1	-	1	956	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	249					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTCCTTGATGATTTTTCCCT	0.428000														129			28		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	429765	429765	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:429765C>T	uc003zgf.2	+	35	4649	c.4537C>T	c.(4537-4539)Cac>Tac	p.H1513Y	DOCK8_uc022bcu.1_Missense_Mutation_p.H1445Y|DOCK8_uc010mgv.3_Missense_Mutation_p.H1413Y|DOCK8_uc010mgu.3_Missense_Mutation_p.H815Y|DOCK8_uc003zgk.2_Missense_Mutation_p.H971Y	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1513	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCAAGTCCTGCACCACTGCAG	0.512000														41			6		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	556008	556008	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:556008G>A	uc003mtd.3	-	18	2072	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	EXOC2_uc003mte.3_Silent_p.F646F|EXOC2_uc011dho.2_Silent_p.F241F	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	646					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TAGGTTGTTGGAAGACCTGTA	0.343000														64			8		0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49574130	49574130	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49574130G>A	uc002pmg.3	-	1	917	c.561C>T	c.(559-561)ccC>ccT	p.P187P		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	187						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TCAGCGGAGCGGGGAACTGCA	0.547000														20			4		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928106	31928106	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31928106T>C	uc003nyn.1	+	3	735	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	116						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GATACTGGGTTACAAAGAGGT	0.567000														161			53		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46783737	46783737	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46783737A>G	uc001ndi.2	-	31	4160	c.4034T>C	c.(4033-4035)cTg>cCg	p.L1345P	CKAP5_uc009ylg.1_Missense_Mutation_p.L1231P|CKAP5_uc001ndj.2_Missense_Mutation_p.L1345P|CKAP5_uc001ndh.1_Missense_Mutation_p.L274P	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1345					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAGCTCTTCCAGGCACTCTGA	0.448000														26			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179514562	179514562	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179514562C>T	uc021vsy.1	-	164	32800	c.32575G>A	c.(32575-32577)Gaa>Aaa	p.E10859K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11786	Glu-rich.|Pro-rich.						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)			GGCGGTGCTTCTGGTTTTTTG	0.348000														84			6		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10391870	10391870	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:10391870C>T	uc003bvt.3	-	15	2769	c.2330G>A	c.(2329-2331)cGa>cAa	p.R777Q	ATP2B2_uc003bvv.3_Missense_Mutation_p.R732Q|ATP2B2_uc003bvw.3_Missense_Mutation_p.R732Q|ATP2B2_uc010hdo.3_Missense_Mutation_p.R482Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	777					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						CTTGTCAATTCGCTCCTGCTC	0.612000														17			3		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17699608	17699608	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:17699608C>T	uc001bak.1	+	1	174	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	50					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGGTCTTGATCGATGTGGCCA	0.592000														34			8		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114441696	114441696	+	Silent	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:114441696T>A	uc001ppc.3	-	5	1780	c.1599A>T	c.(1597-1599)ggA>ggT	p.G533G	FAM55D_uc001ppd.3_Silent_p.G249G	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	533						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TAATCTGATTTCCGACTACAT	0.318000														40			12		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115576208	115576208	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:115576208C>T	uc004eqi.3	+	5	910	c.779C>T	c.(778-780)tCg>tTg	p.S260L	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	260					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)	GGAATCAAATCGTCTGGCAAG	0.363000														44			11		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552339	100552339	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100552339G>A	uc003uxl.1	+	0	1590	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTTACTACCGAAATGGTCAC	0.478000														290			96		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384441	20384441	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20384441T>G	uc002dhc.1	-	5	908	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	229					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.G228V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTCACAATTTTTCCCTTGTAC	0.343000														73			11		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805700	55805700	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55805700G>A	uc002qkf.3	+	8	788	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	BRSK1_uc021vbs.1_Missense_Mutation_p.E205K|BRSK1_uc002qkg.3_Missense_Mutation_p.E205K	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	205	Protein kinase.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.E205K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTTCCAGGGGGAAAAATATGA	0.577000														32			5		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119998143	119998143	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:119998143C>T	uc001pwz.3	-	2	1159	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	TRIM29_uc010rzi.2_Silent_p.V84V|TRIM29_uc010rzj.2_Silent_p.V78V|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	345					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CATCCATGATCACCTTCACTT	0.582000														145			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085591	9085591	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9085591G>A	uc002mkp.3	-	0	6428	c.6224C>T	c.(6223-6225)tCa>tTa	p.S2075L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2075	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						AGAATGGCCTGAGGACAGTGC	0.463000														153			6		0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113169282	113169282	+	Missense_Mutation	SNP	G	A	A	rs143066739	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113169282G>A	uc003eag.4	-	14	2515	c.2224C>T	c.(2224-2226)Cgt>Tgt	p.R742C	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.R638C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	742					cell division|mitosis	centriole|spindle	protein binding	p.R742H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGTTTTCCACGAGCCTCCATA	0.433000														72			19		0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207510695	207510695	+	Missense_Mutation	SNP	C	T	T	rs12135160		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:207510695C>T	uc001hfq.4	+	7	1295	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CD55_uc001hfr.4_Missense_Mutation_p.S334F|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.S270F|CD55_uc009xce.3_Missense_Mutation_p.S334F	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	334	Ser/Thr-rich.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACACCTGTTTCCAGGACAACC	0.423000														62			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089035	9089035	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9089035G>A	uc002mkp.3	-	0	2984	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	927	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						GTTTGTAACTGAGGTACTGCT	0.493000														46			11		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100887645	100887645	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:100887645G>A	uc003yiv.3	+	62	11932	c.11821_splice	c.e62-1	p.V3941_splice	VPS13B_uc003yiw.3_Splice_Site_p.V3916_splice	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3941					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGGATCCTAGGTAGATGGAG	0.423000														152			9		0	0	1	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155693	173155693	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173155693G>A	uc001giw.3	-	2	670	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	TNFSF4_uc001giv.3_Missense_Mutation_p.L122F	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	172					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TGATGGATAAGAATCAGTTCT	0.478000														62			6		0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890625	63890625	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:63890625C>T	uc003jtj.3	+	3	552	c.552C>T	c.(550-552)tcC>tcT	p.S184S	RGS7BP_uc011cqu.2_Silent_p.S51S	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	184					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.S183S(1)		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)		CCTCATCATCCCCCGTAGATA	0.498000														82			7		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32849444	32849444	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:32849444C>T	uc003amn.2	-	1	171	c.171G>A	c.(169-171)aaG>aaA	p.K57K	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR|BPIFC_uc003amo.4_Silent_p.K57K	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	57						extracellular region	lipopolysaccharide binding|phospholipid binding										CTGGGAGTTTCTTTTCTTTTA	0.318000														34			5		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84205903	84205903	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84205903C>T	uc002fhl.4	+	8	1747	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	DNAAF1_uc010vnw.2_Silent_p.F286F	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	522					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.F522F(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGGGTGTATTCGTTACAGAAC	0.448000														33			3		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721432	160721432	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:160721432C>T	uc003lys.1	-	10	1413	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	GABRB2_uc011deh.1_Missense_Mutation_p.D200N|GABRB2_uc003lyr.1_Missense_Mutation_p.D361N|GABRB2_uc003lyt.1_Missense_Mutation_p.D361N	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	399					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	p.S399P(1)		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)	TCATGGGGGTCCATCTGCAAG	0.448000														58			4		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322555	17322555	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:17322555G>A	uc001baa.2	-	14	1648	c.1458C>T	c.(1456-1458)agC>agT	p.S486S	ATP13A2_uc001bac.2_Silent_p.S481S|ATP13A2_uc001bab.2_Silent_p.S481S|ATP13A2_uc009vpa.1_Silent_p.S162S|ATP13A2_uc001bad.1_Silent_p.S199S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	486					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCCGCAGTCGGCTCTGGGCGT	0.622000														108			36		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89804019	89804019	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:89804019C>T	uc010bnp.1	+	3	323	c.233C>T	c.(232-234)tCg>tTg	p.S78L	FANCI_uc002bnm.1_Missense_Mutation_p.S78L|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bno.3_Missense_Mutation_p.S78L|FANCI_uc002bnp.1_5'Flank	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	78					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGGTGGAATCGGGGGATTTG	0.428000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					129			28		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589950	108589950	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:108589950C>T	uc001tms.3	+	1	1085	c.341C>T	c.(340-342)gCc>gTc	p.A114V	WSCD2_uc001tmt.3_Missense_Mutation_p.A114V	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	114						integral to membrane		p.R113G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGAGCCGAGCCCTCAAGGGG	0.592000														36			4		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220161714	220161714	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220161714G>A	uc002vkz.3	-	14	2470	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	PTPRN_uc010zlc.2_Silent_p.F653F|PTPRN_uc002vla.3_Silent_p.F714F|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	743	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CACAGGGCAGGAAGTCAGGAT	0.637000														123			10		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921500	25921500	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:25921500C>T	uc011dkb.2	-	2	464	c.381G>A	c.(379-381)ctG>ctA	p.L127L	SLC17A2_uc011dkc.2_Silent_p.L127L|SLC17A2_uc003nfl.3_Silent_p.L127L			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	127					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GGGAAGAGATCAGCAAACCAG	0.468000														60			5		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414446	26414447	+	Nonsense_Mutation	DNP	AG	TA	TA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26414446_26414447AG>TA	uc001isn.2	+	18	2383_2384	c.2023_2024AG>TA	c.(2023-2025)agg>TAg	p.R675*	MYO3A_uc009xko.1_Nonsense_Mutation_p.R675*|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	675	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TACCGATGTCAGGGATGCCATG	0.416000														101			16		0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678593	130678593	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130678593C>T	uc011muw.2	+	0	546	c.546C>T	c.(544-546)tcC>tcT	p.S182S	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGATTCTCTCCCTCATTAAGC	0.478000														141			37		0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114240331	114240331	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:114240331G>A	uc009wgp.1	-	17	2737	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	PHTF1_uc001edm.2_Missense_Mutation_p.S519L	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	762						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCAGCTTATGATTTAATTTT	0.388000														35			8		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41668603	41668603	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:41668603C>T	uc003gvz.4	+	20	3734	c.3317C>T	c.(3316-3318)cCc>cTc	p.P1106L	LIMCH1_uc003gwe.4_Intron|LIMCH1_uc003gvu.4_Missense_Mutation_p.P721L|LIMCH1_uc003gvv.4_Missense_Mutation_p.P721L|LIMCH1_uc003gvw.4_Missense_Mutation_p.P721L|LIMCH1_uc003gvx.4_Missense_Mutation_p.P709L|LIMCH1_uc003gvy.4_Missense_Mutation_p.P550L|LIMCH1_uc003gwa.4_Missense_Mutation_p.P562L|LIMCH1_uc011byu.2_Missense_Mutation_p.P555L|LIMCH1_uc003gwc.4_Missense_Mutation_p.P567L|LIMCH1_uc003gwd.4_Missense_Mutation_p.P555L|LIMCH1_uc011byv.2_Missense_Mutation_p.P472L|LIMCH1_uc011byw.2_Missense_Mutation_p.P21L	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	721					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						TCTCCAGAACCCGAAGCAACG	0.393000														54			4		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640664	142640664	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142640664C>T	uc003wcb.3	-	14	1822	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	538					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCATTGACGTCCCAAGGGGAC	0.562000														47			4		0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3687900	3687900	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:3687900C>T	uc002qya.3	+	4	455	c.307C>T	c.(307-309)Cct>Tct	p.P103S	COLEC11_uc002qxz.3_Missense_Mutation_p.P100S|COLEC11_uc002qyb.3_Missense_Mutation_p.P79S|COLEC11_uc002qyc.3_Missense_Mutation_p.P79S|COLEC11_uc010ewo.3_Missense_Mutation_p.P55S|COLEC11_uc010ewp.3_Missense_Mutation_p.P77S|COLEC11_uc010ewq.3_Missense_Mutation_p.P53S|COLEC11_uc010ewr.3_Missense_Mutation_p.P53S|COLEC11_uc010ews.3_Missense_Mutation_p.P29S	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	103	Collagen-like.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CATAGGACCCCCTGGTCCTAA	0.383000														19			3		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81695819	81695819	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:81695819C>T	uc003uhr.1	-	7	936	c.680G>A	c.(679-681)aGt>aAt	p.S227N		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	227						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGAGTTCTACTATTATCAAC	0.274000														26			4		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196221	42196221	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42196221G>A	uc003ose.2	-	17	4088	c.3525C>T	c.(3523-3525)ccC>ccT	p.P1175P	TRERF1_uc011duq.1_Silent_p.P1072P|TRERF1_uc003osb.2_Silent_p.P923P|TRERF1_uc003osc.2_Silent_p.P911P|TRERF1_uc003osd.2_Silent_p.P1155P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1155	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATCCTTGATGGGTTTGATCA	0.597000														330			29		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828490	72828490	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72828490C>T	uc002fck.3	-	8	8764	c.8091G>A	c.(8089-8091)agG>agA	p.R2697R	ZFHX3_uc002fcl.3_Silent_p.R1783R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2697					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)				ACTGTCCTTTCCTTTCCCGAG	0.542000														87			10		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656677	40656677	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40656677G>A	uc002rrx.3	-	0	768	c.744C>T	c.(742-744)ttC>ttT	p.F248F	SLC8A1_uc002rry.3_Silent_p.F248F|SLC8A1_uc002rsb.2_Silent_p.F248F|SLC8A1_uc002rrz.3_Silent_p.F248F|SLC8A1_uc002rsa.3_Silent_p.F248F|SLC8A1_uc002rsd.4_Silent_p.F248F|SLC8A1_uc010fan.1_Silent_p.F248F|SLC8A1_uc002rsc.1_Silent_p.F248F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	248					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.F248F(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTACCCAAGCGAACACAACAC	0.443000														91			10		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150911368	150911368	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:150911368G>A	uc003eyp.3	+	13	2189	c.2060G>A	c.(2059-2061)aGg>aAg	p.R687K	MED12L_uc011bnz.2_Missense_Mutation_p.R547K|MED12L_uc003eyn.3_Missense_Mutation_p.R722K|MED12L_uc003eyo.3_Missense_Mutation_p.R687K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	687					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)			TTGGTGAAGAGGGAAAAGCCA	0.403000														74			15		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47778094	47778094	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:47778094C>T	uc002lee.2	-	3	625	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	178										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTTTCCGCTCCTCACACACCT	0.463000														297			18		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36341926	36341926	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36341926C>T	uc002oby.3	-	3	619	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	155	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCACGTACTCCTGCCCAGCT	0.607000														52			6		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908914	38908914	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:38908914G>A	uc021wvy.1	-	22	4048	c.3849C>T	c.(3847-3849)ctC>ctT	p.L1283L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1283					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)	AAATGTAACCGAGTGAATTGC	0.328000														42			3		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102492	22102492	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22102492G>A	uc010tmc.2	-	0	507	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGGGCAGGCGGAAGGTCAAGG	0.552000														91			19		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683851	71683851	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:71683851G>A	uc002fax.3	-	17	2920	c.2914C>T	c.(2914-2916)Ccg>Tcg	p.P972S	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.P905S|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	972	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ATGGTCAGCGGAGTGGAAGAT	0.498000														65			8		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154520897	154520897	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:154520897T>C	uc021zhc.1	-	19	2703	c.2198A>G	c.(2197-2199)aAc>aGc	p.N733S	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Missense_Mutation_p.N142S|CNKSR3_uc003qpw.3_Missense_Mutation_p.N272S|CNKSR3_uc003qpx.3_Missense_Mutation_p.N271S|CNKSR3_uc010kjh.3_Missense_Mutation_p.N272S|CNKSR3_uc021zhd.1_Missense_Mutation_p.N316S|CNKSR3_uc021zhe.1_Missense_Mutation_p.N246S	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	424					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		AGATAAAGAGTTCAAAAATCC	0.418000														77			19		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871974	51871974	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51871974A>T	uc002xwo.3	+	1	2864	c.1977A>T	c.(1975-1977)aaA>aaT	p.K659N	TSHZ2_uc021wex.1_Missense_Mutation_p.K656N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	659					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCTGATGAAAGAGGGCAGCG	0.597000														65			13		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90411285	90411285	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:90411285G>A	uc003pnn.1	-	54	8535	c.8419C>T	c.(8419-8421)Cct>Tct	p.P2807S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2807					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACCTTAAAAGGAAACGGTCGT	0.408000														72			12		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451751	37451751	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:37451751G>A	uc021ppc.1	+	16	1908	c.1809G>A	c.(1807-1809)ttG>ttA	p.L603L	ANKRD30A_uc001iza.1_Silent_p.L603L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	659						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTGGAATTGAAAAATGAAC	0.328000														68			46		0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951656	130951656	+	Silent	SNP	C	T	T	rs139275097	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:130951656C>T	uc002tqv.3	-	3	860	c.759G>A	c.(757-759)acG>acA	p.T253T		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	253					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.T253M(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCTGGAATTCCGTCAAGTCCA	0.597000														107			16		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71849911	71849911	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:71849911G>A	uc001jqm.3	+	2	727	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	90	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAATGACGAGGAGCTCAACCA	0.547000														80			7		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244029	119244029	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:119244029G>A	uc001pwm.4	-	1	457	c.162C>T	c.(160-162)gtC>gtT	p.V54V	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	54	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGCTGGTGGGGACCGGCTTGA	0.627000														75			8		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122277865	122277865	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:122277865C>T	uc001ubj.3	-	12	1084	c.1044G>A	c.(1042-1044)ctG>ctA	p.L348L	HPD_uc001ubk.3_Silent_p.L309L	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	348					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GGATGACTTCCAGGAAGAGCG	0.607000														94			12		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2410255	2410255	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:2410255G>A	uc010xgx.2	+	8	1016	c.1016_splice	c.e8-1	p.L339_splice	TMPRSS9_uc002lvv.1_Splice_Site_p.L373_splice	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	339	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CATTCGGCCAGTGGTCAAGCC	0.602000														97			12		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849619	189849619	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189849619A>T	uc002uqj.1	+	1	330	c.213A>T	c.(211-213)gaA>gaT	p.E71D		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	71	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGATCAAGAATTAGACTGCC	0.443000														46			4		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298415	36298415	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36298415G>A	uc003oly.3	-	1	231	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	18										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCTGTCCAGAGACCTGGCTTT	0.607000														105			8		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350723	121350723	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121350723G>A	uc003eeh.4	-	13	1556	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	HCLS1_uc011bjj.2_Silent_p.F440F	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	477	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AATTTGCAGGGAAGAGTCCAA	0.532000														72			15		0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145430	107145430	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:107145430C>T	uc001vqi.3	-	4	1036	c.960G>A	c.(958-960)gaG>gaA	p.E320E		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	320					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	p.Q319*(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GCGGGGGCATCTCCTGGACGA	0.592000														29			5		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304184	115304184	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:115304184C>T	uc022cdd.1	+	0	651	c.651C>T	c.(649-651)atC>atT	p.I217I	AGTR2_uc004eqh.4_Silent_p.I217I	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	217					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGAAAAATATCCTTGGTTTTA	0.373000														40			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47527697	47527697	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:47527697G>A	uc002leb.2	-	4	828	c.540C>T	c.(538-540)ttC>ttT	p.F180F	MYO5B_uc021ukb.1_Silent_p.F179F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	180	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)		CAACGGTGGCGAAATAGCGCA	0.532000														131			23		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356489	40356489	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:40356489C>T	uc003gva.1	+	4	1408	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	464					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GGATTTTTTTCATTATGGTGT	0.418000														101			10		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103381237	103381237	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:103381237C>T	uc001dum.3	-	49	4120	c.3802G>A	c.(3802-3804)Gaa>Aaa	p.E1268K	COL11A1_uc001duk.3_Missense_Mutation_p.E452K|COL11A1_uc001dul.3_Missense_Mutation_p.E1256K|COL11A1_uc001dun.3_Missense_Mutation_p.E1217K|COL11A1_uc009weh.3_Missense_Mutation_p.E1140K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1256	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTCCAGGTTCACCCTATATA	0.358000														77			4		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957906	53957906	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:53957906C>T	uc002acj.2	-	13	1867	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	WDR72_uc010bfi.1_Missense_Mutation_p.D609N	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	609										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGCTGTGAATCATCACAACAA	0.408000														56			7		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964653	119964653	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119964653G>A	uc001ehs.3	+	2	1302	c.529G>A	c.(529-531)Gat>Aat	p.D177N	HSD3B2_uc021ost.1_Missense_Mutation_p.D177N|HSD3B2_uc001eht.3_Missense_Mutation_p.D177N|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	177					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	AAAAAATGGTGATACCTTGTA	0.478000														84			9		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113004	234113004	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234113004C>T	uc010zmo.2	+	24	3274	c.3121C>T	c.(3121-3123)Cgc>Tgc	p.R1041C	INPP5D_uc010zmp.2_Missense_Mutation_p.R1040C	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1070	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGAGGCTGATCGCGGCGAGGG	0.711000														39			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140189010	140189010	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140189010G>A	uc003lhi.2	+	0	2339	c.2238G>A	c.(2236-2238)ggG>ggA	p.G746G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.G746G|PCDHAC2_uc011daa.2_Silent_p.G746G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	783					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)			GTGCGGTGGGGAGCTGGTCAT	0.672000														62			6		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928131	38928131	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:38928131G>A	uc002hvf.3	-	0	281	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	79	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCCCAGAGAGGAGGCTGTGC	0.547000														89			6		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331764	100331764	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:100331764G>A	uc021sxl.1	-	1		c.1389C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		ACAGGAGATAGAGGAGGACAT	0.627000														45			7		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602780	138602780	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138602780G>A	uc011kql.2	-	1	1641	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	KIAA1549_uc011kqj.2_Missense_Mutation_p.P531L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	531	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAGTGACGCCGGCACAGAGAG	0.542000			O	BRAF	pilocytic astrocytoma									12			3		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49210283	49210283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:49210283G>A	uc002rww.3	-	6	657	c.547C>T	c.(547-549)Caa>Taa	p.Q183*	FSHR_uc010fbn.3_Nonsense_Mutation_p.Q157*|FSHR_uc002rwx.3_Nonsense_Mutation_p.Q183*|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	183					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGTATTTCTTGAATCCCATTC	0.378000									Gonadal Dysgenesis, 46 XX					23			4		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135145026	135145026	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:135145026G>A	uc004cbk.3	-	24	7446	c.7263C>T	c.(7261-7263)atC>atT	p.I2421I	SETX_uc004cbj.3_Silent_p.I2040I|SETX_uc010mzt.3_Silent_p.I2007I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2421					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATGTCCGAGGATGAAGAGGC	0.413000														260			62		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380677	78380677	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:78380677C>T	uc001ozl.4	-	31	7176	c.6713G>A	c.(6712-6714)cGg>cAg	p.R2238Q	ODZ4_uc001ozk.4_Missense_Mutation_p.R463Q	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2238					signal transduction	integral to membrane		p.R2238L(3)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GATGTCATACCGTAGTGGTGT	0.562000														137			11		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179319	87179319	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87179319C>T	uc003uiz.2	-	13	1895	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ABCB1_uc011khc.2_Missense_Mutation_p.E404K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	468	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R467W(4)|p.R467L(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAATGATTTCCCGTAGAAAC	0.408000														104			8		0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101111092	101111092	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:101111092C>T	uc003hvq.3	-	1	294	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	Homo sapiens DNA-damage-inducible transcript 4-like (DDIT4L), mRNA.	17					negative regulation of signal transduction	cytoplasm		p.S16S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TCCAGCAATTCTGAAATGCTG	0.582000														63			9		0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113784098	113784098	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113784098C>T	uc003eaz.3	+	1	116	c.30C>T	c.(28-30)tcC>tcT	p.S10S	QTRTD1_uc003eay.3_5'UTR|QTRTD1_uc011biq.2_5'UTR|QTRTD1_uc011bir.2_Intron|QTRTD1_uc003eba.3_5'Flank	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	0					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TAGAAGAATCCCTTAGGATGA	0.413000														67			17		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63411576	63411576	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:63411576G>A	uc022byb.1	-	0	1591	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*	FAM123B_uc004dvo.3_Nonsense_Mutation_p.R531*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	531					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TCAGAGCTTCGACCATGGAGG	0.507000														20			10		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702279	56702279	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56702279C>T	uc010ygh.2	-	2	666	c.666G>A	c.(664-666)gaG>gaA	p.E222E		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGATCCTTCTCCAAGGTCT	0.502000														70			12		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408535	29408535	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29408535C>T	uc011dlp.2	+	0	820	c.743C>T	c.(742-744)tCc>tTc	p.S248F	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S248S(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCATGGTCTCCCTCTTCTAT	0.587000														334			49		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64225435	64225435	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:64225435C>T	uc002jfn.4	-	1	123	c.64_splice	c.e1+1	p.T22_splice		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	22	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AGTACTTACTCCGTCCTGCAA	0.418000														19			4		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56216890	56216890	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:56216890G>A	uc002adl.3	-	4	327	c.245C>T	c.(244-246)cCt>cTt	p.P82L		NM_006154	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 1, mRNA.	1180	Ser-rich.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTGCTGCTGAGGATGAACCTA	0.363000														10			4		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45938899	45938899	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:45938899G>A	uc001jce.3	+	10	1586	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	ALOX5_uc009xmt.3_Missense_Mutation_p.G464D|ALOX5_uc010qfg.2_Missense_Mutation_p.G496D|ALOX5_uc021ppr.1_Silent_p.G436G	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	496	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)	TACTACGAGGGCGACCAGGTG	0.692000														15			5		0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42936679	42936680	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42936679_42936680GG>AA	uc003otf.3	-	5	1504_1505	c.1411_1412CC>TT	c.(1411-1413)ccc>TTc	p.P471F	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	471					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACAGCCTGGGGGGCCCCGTAGA	0.559000														107			9		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74309914	74309914	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:74309914G>A	uc010wtb.1	-	7	752	c.531C>T	c.(529-531)atC>atT	p.I177I	PRPSAP1_uc010wta.1_Silent_p.I280I	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	251					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CGATGATTGCGATGCGGCCTC	0.458000														44			6		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412677	130412677	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130412677A>C	uc004ewe.4	-	11	2097	c.1814T>G	c.(1813-1815)tTt>tGt	p.F605C	IGSF1_uc004ewd.3_Missense_Mutation_p.F600C|IGSF1_uc022cdv.1_Missense_Mutation_p.F591C|IGSF1_uc004ewf.2_Missense_Mutation_p.F580C	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	600	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.W605L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCCAGAGGAAAGTTGGTCTC	0.547000														66			20		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93088615	93088615	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:93088615G>A	uc001pdq.3	+	2	208	c.108G>A	c.(106-108)tgG>tgA	p.W36*	CCDC67_uc001pdo.1_Nonsense_Mutation_p.W36*|CCDC67_uc001pdp.3_Nonsense_Mutation_p.W36*	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	36										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAATGGATTGGGAAAGAAAGA	0.408000														43			7		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9853781	9853781	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:9853781G>A	uc001mib.2	-	26	3780	c.3642C>T	c.(3640-3642)tcC>tcT	p.S1214S		NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1214	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGGCCTGAGGGGAGTTCTGAG	0.448000														33			6		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74361174	74361174	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:74361174C>T	uc011lsa.1	-	2	955	c.415G>A	c.(415-417)Gat>Aat	p.D139N	TMEM2_uc010mos.2_Missense_Mutation_p.D139N|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	139	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CGGAGCATATCTCCCTCCTTG	0.453000														62			14		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152359376	152359376	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:152359376C>T	uc021vrb.1	-	137	18785	c.18756G>A	c.(18754-18756)ggG>ggA	p.G6252G	NEB_uc002txr.3_Intron|NEB_uc002txu.3_Silent_p.G7953G|NEB_uc021vrc.1_Silent_p.G7953G|NEB_uc010fnx.3_Silent_p.G6240G|NEB_uc021vrd.1_Silent_p.G6252G|RIF1_uc002txp.3_Intron|NEB_uc002txq.3_Silent_p.G38G|NEB_uc010zca.2_Intron|NEB_uc010zcb.2_Intron|NEB_uc002txt.4_Intron	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6252					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATTCCTTTCCCCAAATTTT	0.413000														21			3		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093131	211093131	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:211093131C>T	uc001hib.2	-	6	1483	c.1313G>A	c.(1312-1314)gGg>gAg	p.G438E	KCNH1_uc001hic.2_Missense_Mutation_p.G411E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	438					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTCCCACTTCCCTGAGCCAGA	0.517000														73			15		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811339	23811339	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:23811339C>T	uc001ywh.4	+	0	886	c.410C>T	c.(409-411)gCc>gTc	p.A137V	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.A137V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	137						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCGCCTGGGGCCTCTGCAGGT	0.637000														52			5		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043470	20043470	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20043470G>A	uc002dgu.1	-	1	811	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	GPR139_uc010vaw.1_Missense_Mutation_p.R124C	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	217						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGAGACGAAAATTGCTC	0.507000														72			9		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258072	56258072	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56258072G>A	uc001nix.1	-	0	775	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGGGGTCTGAGATACATGAAG	0.413000														49			9		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130008366	130008366	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:130008366C>T	uc010lmd.1	+	13	1859	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CPA5_uc003vps.2_Silent_p.I413I|CPA5_uc003vpt.2_Missense_Mutation_p.S385L|CPA5_uc010lme.1_Silent_p.I413I|CPA5_uc003vpu.1_Silent_p.I413I|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	413					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCACACAGATCATCCCCACGG	0.607000														106			20		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870476	51870476	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51870476G>A	uc002xwo.3	+	1	1366	c.479G>A	c.(478-480)gGc>gAc	p.G160D	TSHZ2_uc021wex.1_Missense_Mutation_p.G157D	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	160					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCCGAAACGGCAGCAACAAG	0.547000														66			15		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797178	42797178	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42797178G>A	uc002otf.1	+	14	3580	c.3540G>A	c.(3538-3540)gtG>gtA	p.V1180V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1180	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCAGAAAGTGAAGGCAGCCA	0.657000			"""Mis, F, S"""		oligodendroglioma									42			4		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510333	5510333	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5510333T>A	uc010qzg.2	+	0	419	c.397T>A	c.(397-399)Tta>Ata	p.L133I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTAACCCATTAAGGTACAC	0.458000														105			22		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911629	107911629	+	Missense_Mutation	SNP	G	A	A	rs104886391		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107911629G>A	uc022ccg.1	+	40	3887	c.3685G>A	c.(3685-3687)Ggt>Agt	p.G1229S	COL4A5_uc004enz.1_Missense_Mutation_p.G1229S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1229	Triple-helical region.		G -> D (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGCTTTCACGGTTTCCCTGG	0.572000									Alport syndrome with Diffuse Leiomyomatosis					17			5		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862495	43862495	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:43862495T>C	uc010skx.2	-	7	1131	c.1131A>G	c.(1129-1131)ttA>ttG	p.L377L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	377	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATATGGTACCTAAATATGATA	0.313000														39			7		0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37515009	37515009	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:37515009A>G	uc011mkd.2	+	1	944	c.642A>G	c.(640-642)atA>atG	p.I214M	LANCL3_uc004ddp.2_Missense_Mutation_p.I214M	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	214							catalytic activity			lung(4)|pancreas(1)	5						AGTATGCCATAAAGAAGAGGA	0.443000														20			13		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1190811	1190811	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1190811G>A	uc001adp.3	-	6	741	c.552C>T	c.(550-552)ctC>ctT	p.L184L	UBE2J2_uc001adm.3_Silent_p.L149L|UBE2J2_uc001ado.3_Silent_p.L200L|UBE2J2_uc001adq.3_Silent_p.L132L|UBE2J2_uc001adr.3_Silent_p.L132L	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	184					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CTGGCAAGGGGAGAGTCTGGG	0.567000														178			20		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786564	113786564	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113786564G>A	uc002tiq.1	-	3	317	c.213C>T	c.(211-213)ctC>ctT	p.L71L	IL36B_uc002tir.1_Silent_p.L71L	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	71					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AGAAGAGACAGAGATCTTTTC	0.413000														75			7		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103340154	103340154	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:103340154G>A	uc001ktg.1	-	6	1980	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.A78V|POLL_uc001kte.1_Missense_Mutation_p.A97V|POLL_uc001kth.1_Missense_Mutation_p.A130V|POLL_uc001ktj.2_Missense_Mutation_p.A405V|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.A313V|POLL_uc001kti.2_Missense_Mutation_p.A405V|POLL_uc001ktl.3_Missense_Mutation_p.A317V|POLL_uc001ktm.3_Missense_Mutation_p.A405V|POLL_uc010qqc.2_Missense_Mutation_p.A97V|POLL_uc010qqa.2_Missense_Mutation_p.A144V	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	405					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGAGTTAAAGGCCTGGGCTGC	0.607000								DNA polymerases (catalytic subunits)						53			13		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732822	179732822	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179732822G>A	uc002une.2	-	15	2623	c.2505C>T	c.(2503-2505)gcC>gcT	p.A835A	CCDC141_uc002unf.1_Silent_p.A314A	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	260	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)			GGTCTACACGGGCTTGCTTTT	0.493000														45			10		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665324	64665324	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:64665324G>A	uc001obx.3	-	34	5096	c.4981C>T	c.(4981-4983)Ccc>Tcc	p.P1661S	ATG2A_uc001obw.3_Missense_Mutation_p.P426S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1661							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AAGTAGATGGGCTGCTGGTCA	0.682000														59			8		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603668	5603668	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:5603668G>A	uc001qnl.4	+	0	371	c.288G>A	c.(286-288)caG>caA	p.Q96Q	NTF3_uc001qnk.4_Silent_p.Q109Q	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	96					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGCGACAACAGAGACGCTACA	0.647000														63			6		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200417	132200417	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:132200417C>T	uc002tst.2	-	0	2051	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		ATCCCTCTTTCCAAGAATCCC	0.562000														19			3		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458370	248458370	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248458370C>T	uc010pzj.2	-	0	511	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E171K(2)		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)			TGATCGATCTCGTGTGCACCG	0.562000														76			15		0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160214	104160214	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104160214G>A	uc001dut.3	+	0	216	c.152G>A	c.(151-153)gGa>gAa	p.G51E	AMY2A_uc010ouq.1_Missense_Mutation_p.G51E	NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	51					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	p.G51*(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GCTCCGAAGGGATTTGGAGGG	0.423000														370			44		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4714907	4714907	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:4714907C>T	uc003bqc.3	+	19	2597	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ITPR1_uc021wsi.1_Silent_p.L764L|ITPR1_uc021wsj.1_Silent_p.L749L|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	764					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATGTCGATCTCATTCTCCGCT	0.547000														33			5		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88277458	88277458	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88277458G>A	uc001kdn.3	-	2	507	c.498C>T	c.(496-498)gtC>gtT	p.V166V	WAPAL_uc001kdo.3_Silent_p.V123V|WAPAL_uc009xsw.3_Silent_p.V123V|WAPAL_uc010qmh.1_Silent_p.V123V|WAPAL_uc010qmi.1_Silent_p.V160V|WAPAL_uc010qmj.1_Silent_p.V123V	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	123	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.T165P(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTCTTCAACGACCACATGAC	0.413000														65			5		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138239657	138239657	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138239657T>C	uc003vuc.3	+	8	1691	c.1476T>C	c.(1474-1476)ggT>ggC	p.G492G	TRIM24_uc003vub.3_Intron|TRIM24_uc022amn.1_Intron	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	492					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CACCTGTGGGTTTACCAAACC	0.498000														65			34		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893818	50893818	+	Silent	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:50893818C>G	uc003blh.3	-	32	4584	c.4389G>C	c.(4387-4389)ctG>ctC	p.L1463L	SBF1_uc003ble.3_5'UTR|SBF1_uc011arx.2_Silent_p.L1101L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1437	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCTGAGAGCAGCTGCACCA	0.672000														55			8		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119466136	119466136	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119466136G>A	uc001ehl.1	-	4	781	c.466C>T	c.(466-468)Cct>Tct	p.P156S		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	262			H -> N (in dbSNP:rs10494217).			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCCCCAACAGGAACAGGCTTA	0.473000														50			8		0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64165346	64165346	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:64165346G>A	uc001xgj.3	-	1	809	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 1 (SGPP1), mRNA.	239						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CACCAGCAGGGAATAAGAATC	0.289000														36			7		0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172398102	172398102	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:172398102C>T	uc002ugy.4	+	1	391	c.201C>T	c.(199-201)atC>atT	p.I67I	CYBRD1_uc002ugz.4_Intron	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	67	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TAGCCATCATCGTCTACAGAC	0.428000														50			6		0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104116472	104116472	+	Missense_Mutation	SNP	C	T	T	rs140826288		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104116472C>T	uc010ouo.2	+	15	2360	c.656C>T	c.(655-657)cCt>cTt	p.P219L	AMY2B_uc001duq.3_Missense_Mutation_p.P219L|AMY2B_uc001dur.3_Missense_Mutation_p.P219L|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	219					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			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)		CACATGTGGCCTGGAGACATA	0.413000														371			46		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836232	12836232	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12836232C>T	uc001aui.3	+	1	861	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	278										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCTCTTTCCTCGAAGGCC	0.502000														126			33		0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32096264	32096264	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:32096264G>A	uc001bth.2	-	4	1178	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	HCRTR1_uc010ogl.2_Intron|PEF1_uc021okp.1_Missense_Mutation_p.R199W|PEF1_uc021okq.1_Missense_Mutation_p.R134W|PEF1_uc001bte.1_3'UTR	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	269	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		AAGCTGAGCCGAATGTTGCCT	0.572000														35			11		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920635	13920635	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13920635C>T	uc003jfd.2	-	5	794	c.752G>A	c.(751-753)gGa>gAa	p.G251E	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	251	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTATTTTTCCCAAAGTCTC	0.393000									Kartagener syndrome					80			14		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90012538	90012538	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:90012538C>T	uc003kju.3	+	42	9535	c.9439C>T	c.(9439-9441)Cga>Tga	p.R3147*	GPR98_uc003kjt.3_Nonsense_Mutation_p.R853*|GPR98_uc003kjv.3_Nonsense_Mutation_p.R747*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3147	Calx-beta 22.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R3147Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAGGTGTTCGATTCAAGGT	0.328000														40			16		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643034	1643034	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1643034G>A	uc009ycy.1	-	1	272	c.185C>T	c.(184-186)tCc>tTc	p.S62F	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	157	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)		GCCCCCCTTGGAACCCCCACA	0.687000														128			14		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166532958	166532958	+	Missense_Mutation	SNP	G	A	A	rs79015458		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:166532958G>A	uc002udf.3	+	5	921	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	CSRNP3_uc002udg.3_Missense_Mutation_p.R182Q	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	182					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACAAAAAAACGAAGAGCTCTG	0.483000														193			36		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037013	48037013	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:48037013G>A	uc003gxw.3	+	4	643	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	193						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAGAAGAGGAAGTCACATC	0.408000														50			13		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582688	158582688	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158582688G>A	uc001fst.1	-	50	7252	c.7053C>T	c.(7051-7053)atC>atT	p.I2351I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2351					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTGGACTTGATGTTTTCTG	0.468000														47			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577629	179577629	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179577629G>A	uc021vsy.1	-	90	23616	c.23391C>T	c.(23389-23391)atC>atT	p.I7797I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I4458I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8724	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)			TTCCTTTTACGATACTTGTGA	0.413000														21			4		0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20827741	20827741	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:20827741G>A	uc001bdi.4	-	3	658	c.501C>T	c.(499-501)acC>acT	p.T167T		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	167					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CGATGACATCGGTGAAGGACT	0.592000														120			16		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104048	53104048	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:53104048C>T	uc003tpz.3	+	0	700	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	228								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTTGCTTCCTTCGTGCCCA	0.637000														78			7		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187446258	187446258	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:187446258G>A	uc003frp.3	-	5	1887	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.S477F|BCL6_uc010hza.2_Missense_Mutation_p.S375F|BCL6_uc003frq.2_Missense_Mutation_p.S477F	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	477					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)		AGAGCCGCAGGACGTGCACTT	0.607000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									35			9		0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017809	101017809	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:101017809T>C	uc001thu.3	+	9	1452	c.1226T>C	c.(1225-1227)tTa>tCa	p.L409S	GAS2L3_uc009zty.3_Missense_Mutation_p.L409S|GAS2L3_uc001thv.3_Missense_Mutation_p.L305S	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	409					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTGCTTCATTAAATCCAGTA	0.433000														63			11		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221693	5221693	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5221693G>A	uc010qyz.2	-	0	238	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	80					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)		CCCATGCACAGGTCAGTGAGG	0.527000														53			9		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320676	52320676	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:52320676C>T	uc003xqu.4	-	16	3609	c.3508G>A	c.(3508-3510)Gat>Aat	p.D1170N	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1170					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTTGAAGATCCTCAAAGTTC	0.373000														48			4		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42174916	42174916	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42174916G>A	uc001zos.3	-	9	2141	c.1808C>T	c.(1807-1809)aCc>aTc	p.T603I		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	638					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)		CCGCTGCAGGGTCTGCTCCAG	0.662000														12			3		0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43923211	43923211	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:43923211C>T	uc001mxs.2	+	7	1048	c.605C>T	c.(604-606)cCc>cTc	p.P202L	ALKBH3_uc009ykp.2_Non-coding_Transcript|ALKBH3_uc001mxt.2_Non-coding_Transcript	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	Homo sapiens alkB, alkylation repair homolog 3 (E. coli) (ALKBH3), mRNA.	202	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	DNA-N1-methyladenine dioxygenase activity|L-ascorbic acid binding|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GGGAGGTGCCCCATTATTGCT	0.478000								Direct reversal of damage						37			7		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35532654	35532654	+	Splice_Site	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:35532654T>A	uc002xgh.2	-	13	1611	c.1411_splice	c.e13-1	p.E471_splice	SAMHD1_uc010gft.2_Splice_Site	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	471					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATAGTCCTCCTGGAAAACACA	0.393000														70			14		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99270202	99270202	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99270202C>T	uc003urq.3	-	4	420	c.318_splice	c.e4+1	p.R106_splice	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Splice_Site|CYP3A7_uc011kiy.2_Splice_Site_p.R96_splice|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Splice_Site_p.R106_splice	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	106					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGGATGCTTACCCTTCGATTT	0.338000														96			29		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255223	15255223	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:15255223G>A	uc001iob.3	-	7	2371	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	788						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCAGGTACACGAGCTGCGTGT	0.607000														41			10		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85401496	85401496	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:85401496G>A	uc002ble.3	+	5	4300	c.4133G>A	c.(4132-4134)gGa>gAa	p.G1378E		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1378					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGAGCAGCAGGAGACGGGGAG	0.647000														5			5		0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2290105	2290105	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:2290105C>T	uc001ajb.1	-	8	816	c.795G>A	c.(793-795)caG>caA	p.Q265Q	MORN1_uc009vld.3_Silent_p.Q241Q|MORN1_uc001ajd.1_Silent_p.Q265Q	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	265										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGGCTGACAGCTGCACGTATC	0.557000														29			5		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131984464	131984464	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:131984464G>A	uc002tsn.2	+	3	931	c.879G>A	c.(877-879)aaG>aaA	p.K293K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	293							ATP binding										TTTTAATCAAGAAAAAAGCGA	0.343000														133			10		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857449	68857449	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:68857449G>A	uc001jmz.1	+	2	2191	c.1641G>A	c.(1639-1641)acG>acA	p.T547T	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	547						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCTTTGAAACGAATGCACAGG	0.463000														69			6		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707364	96707364	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:96707364C>T	uc010avm.1	+	2	895	c.699C>T	c.(697-699)ttC>ttT	p.F233F	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.F206F|BDKRB2_uc001yfg.2_Silent_p.F233F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	233					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCGTGGGCTTCCTGCTGCCCC	0.542000														19			6		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203194946	203194946	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:203194946C>T	uc001gzn.2	-	2	204	c.108G>A	c.(106-108)caG>caA	p.Q36Q	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.Q46Q	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	36					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GAGCCTCCCCCTGTCTGTACT	0.582000														58			11		0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114990732	114990732	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:114990732G>A	uc004bfv.3	-	10	1360	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Nonsense_Mutation_p.R390*|PTBP3_uc004bfw.3_Nonsense_Mutation_p.R387*|PTBP3_uc011lwu.2_Nonsense_Mutation_p.R359*|PTBP3_uc004bfz.3_Nonsense_Mutation_p.R359*|PTBP3_uc004bfy.3_Nonsense_Mutation_p.R292*	NM_001244898	NP_001231827	O95758	ROD1_HUMAN	Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA.	387	RRM 3.				anatomical structure morphogenesis|mRNA processing	nucleus	RNA binding|nucleotide binding										ATCTTCACTCGATGTACATCA	0.289000														23			4		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208729	100208729	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:100208729G>A	uc003hur.2	-	1	226	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.R38C	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	38					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATACGAACTTCATGG	0.348000														35			6		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304079	53304079	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53304079G>A	uc002qad.3	-	3	1176	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	ZNF28_uc002qac.3_Missense_Mutation_p.S286L|ZNF28_uc010eqe.3_Missense_Mutation_p.S286L|ZNF28_uc021uza.1_Missense_Mutation_p.S287L	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGCTAGGTATGAATTACATGT	0.368000														65			9		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44284563	44284563	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44284563C>T	uc010xcy.1	-	2	872	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc002lcj.1_Missense_Mutation_p.E66K|ST8SIA5_uc010xcz.1_Intron|ST8SIA5_uc010dno.1_Missense_Mutation_p.E102K	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	66					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TCCAATATTTCGTGCCTCAGC	0.522000														181			41		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629266	47629267	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:47629266_47629267GG>AA	uc001rpq.3	+	1	945_946	c.420_421GG>AA	c.(418-423)ctggag>ctAAag	p.E141K	FAM113B_uc001rpn.3_Missense_Mutation_p.E141K|FAM113B_uc021qxi.1_Missense_Mutation_p.E141K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	141							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)					GAAGCTACCTGGAGAACCTGGA	0.619000														65			11		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182585212	182585212	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:182585212A>C	uc003flb.3	+	14	1925	c.1668A>C	c.(1666-1668)aaA>aaC	p.K556N	ATP11B_uc003flc.3_Missense_Mutation_p.K140N	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	556					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGGAGGTTAAAACTCTTGGAA	0.299000														35			11		0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30714787	30714787	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:30714787A>G	uc002ynk.3	+	4	2087	c.1844A>G	c.(1843-1845)cAg>cGg	p.Q615R	BACH1_uc002ynj.3_Missense_Mutation_p.Q615R|BACH1_uc002ynl.2_Intron	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	615						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAGACAAAGCAGAACCTAACT	0.438000														60			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399747	179399747	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179399747G>A	uc021vsy.1	-	306	94116	c.93891C>T	c.(93889-93891)tcC>tcT	p.S31297S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S24992S|TTN_uc021vta.1_Silent_p.S24925S|TTN_uc021vtb.1_Silent_p.S24800S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32224	Fibronectin type-III 128.						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)			TATTCAGAATGGAAATTTCCT	0.353000														72			12		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746650	95746650	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:95746650C>T	uc003kls.2	-	7	1162	c.923G>A	c.(922-924)gGa>gAa	p.G308E	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Missense_Mutation_p.G261E	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	308	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCCCGTTTCCCGAAGCCCA	0.512000														159			21		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012881	29012881	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29012881C>T	uc003nlw.2	-	0	72	c.72G>A	c.(70-72)gaG>gaA	p.E24E	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ACAGGATCATCTCCATTTTTG	0.408000														104			10		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38997933	38997933	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38997933G>A	uc021yzh.1	+	92	13998	c.13889G>A	c.(13888-13890)cGg>cAg	p.R4630Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R4413Q	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						TGGGACAGACGGAATGGGAAG	0.483000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			7		0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74985235	74985235	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74985235G>A	uc001owe.2	-	10	1021	c.797C>T	c.(796-798)tCg>tTg	p.S266L	ARRB1_uc001owf.2_Missense_Mutation_p.S266L	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	266					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GCAGAACGTCGAGCTGGGTGC	0.592000														176			12		0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71252859	71252859	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:71252859G>A	uc003twb.4	-	6	1078	c.687C>T	c.(685-687)acC>acT	p.T229T	CALN1_uc003twa.4_Silent_p.T187T|CALN1_uc003twc.4_Silent_p.T187T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	187						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCCGGACGCAGGTCTGTCTGT	0.532000														46			11		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21265251	21265251	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21265251G>A	uc002red.3	-	2	347	c.219C>T	c.(217-219)gcC>gcT	p.A73A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	73	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGATCCTGGTGGCACTTCTTG	0.572000														72			17		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171076824	171076824	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:171076824A>G	uc001ghi.3	+	3	441	c.330A>G	c.(328-330)gtA>gtG	p.V110V	FMO3_uc001ghh.3_Silent_p.V110V|FMO3_uc010pmb.2_Silent_p.V90V|FMO3_uc010pmc.2_Silent_p.V47V	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	110					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGACATTTGTATCCAGTGTAA	0.363000														29			3		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832427	4832427	+	Silent	SNP	C	T	T	rs34307148		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:4832427C>T	uc001alm.1	+	3	1386	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	AJAP1_uc001aln.3_Silent_p.F335F	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	335	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCACGGACTTCCCCTCGGCCC	0.607000														43			11		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120512204	120512204	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120512204G>A	uc001eik.3	-	5	1335	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	NOTCH2_uc001eil.3_Silent_p.S346S|NOTCH2_uc021osy.1_Silent_p.S307S|NOTCH2_uc001eim.4_Silent_p.S263S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	346	EGF-like 9; 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)		CTGGAGTACAGGAGGCGAAGG	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					47			7		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17542914	17542914	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17542914C>T	uc001mnf.3	-	12	1173	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	USH1C_uc001mne.3_Missense_Mutation_p.R355K|USH1C_uc009yhb.3_Missense_Mutation_p.R336K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.R319K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	355					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTTCCGGTATCTCTCATTTTC	0.502000														165			14		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378093	19378093	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:19378093G>A	uc010tkp.2	+	0	500	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGTTTGTGGATTTCTGTGG	0.488000														350			7		0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031254	132031254	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132031254C>T	uc011ece.2	-	0	904	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA.	302						integral to membrane				endometrium(1)|lung(1)	2						GCACCATTTTCCCATTGACTG	0.398000														47			4		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166990348	166990348	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:166990348C>T	uc001gdy.1	+	10	1139	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	MAEL_uc021peh.1_Silent_p.F300F|MAEL_uc001gdz.1_Silent_p.F325F|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	356					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GTTCAGGATTCTCTCATTTCA	0.358000														38			8		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55855342	55855342	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:55855342C>T	uc002eim.3	-	4	736	c.628G>A	c.(628-630)Ggg>Agg	p.G210R	CES1_uc002eil.3_Missense_Mutation_p.G211R|CES1_uc002ein.3_Missense_Mutation_p.G210R	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	210					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCTGGGTTCCCTCCAAAGCTG	0.592000														93			4		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342042	101342042	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:101342042G>A	uc001pgk.4	-	8	2706	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	TRPC6_uc009ywy.3_Missense_Mutation_p.P645S|TRPC6_uc009ywz.1_Missense_Mutation_p.P706S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	761					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGGTACAGGAAGTGTTCTG	0.438000														86			9		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627841	37627841	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37627841C>T	uc010cvv.3	+	1	2342	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S	CDK12_uc010wef.1_Missense_Mutation_p.P585S|CDK12_uc002hrw.4_Missense_Mutation_p.P586S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	586					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACTTTGCCCCCTTCTACTCA	0.493000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				227			25		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20177352	20177352	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:20177352G>A	uc002wru.3	+	15	1843	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	C20orf26_uc010zse.2_Missense_Mutation_p.E557K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	577										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTTCTGAAGGAGATCCTGCG	0.473000														56			5		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068435	126068435	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:126068435G>A	uc001uhe.1	+	4	1325	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	TMEM132B_uc021rgl.1_Silent_p.K329K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	439						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCACTGGAAAGCCTGTTTCAG	0.527000														231			24		0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104874042	104874042	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:104874042G>A	uc010ruz.1	-	3	573	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	CASP5_uc010rva.1_Missense_Mutation_p.R168C|CASP5_uc010rvb.1_Missense_Mutation_p.R110C|CASP5_uc010rvc.1_Missense_Mutation_p.R26C|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	168					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.I181I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AATTCTTCACGAGGACAAAGT	0.383000														98			19		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60903023	60903024	+	Missense_Mutation	DNP	GA	AC	AC	rs143224228		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60903023_60903024GA>AC	uc002ycq.3	-	35	4762_4763	c.4695_4696TC>GT	c.(4693-4698)tctccg>tcGTcg	p.P1566S	LAMA5_uc021wfw.1_Missense_Mutation_p.P1566S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1566	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGAAGCCCGGAGAGCAGGTAT	0.668000														86			11		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912021	87912022	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87912021_87912022AG>GA	uc022agz.1	-	3	1141_1142	c.918_919CT>TC	c.(916-921)ctctac>ctTCac	p.Y307H	STEAP4_uc003ujs.3_Missense_Mutation_p.Y307H|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	307	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ACAAGTGTGTAGAGGACATGAA	0.446000														52			6		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886953	123886953	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123886953C>T	uc010sac.2	+	0	672	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGTTCCATCCTGCGGATCC	0.527000														75			4		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108219036	108219036	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108219036C>T	uc003dxa.1	-	4	542	c.485G>A	c.(484-486)gGg>gAg	p.G162E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	162	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						TCGCCTCTTCCCTTTGTAGGC	0.473000														52			7		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163059452	163059452	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:163059452C>T	uc002ucd.3	-	14	1361	c.1153_splice	c.e14-1	p.E385_splice	FAP_uc010zct.2_Splice_Site_p.E360_splice	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	385					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATAGCATTTTCCTATAAAAAG	0.378000														65			9		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139474	142139474	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142139474G>A	uc003vyt.3	-	1	196	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TACCAATAAAGGGATACATGA	0.512000														76			4		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10587104	10587104	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:10587104C>T	uc001qyh.3	-	2	319	c.312G>A	c.(310-312)ccG>ccA	p.P104P	KLRC2_uc010she.1_Silent_p.P104P|KLRC2_uc001qyk.2_Silent_p.P104P	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	104					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TTCTTGTATTCGGGGAAAAAT	0.284000														86			4		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10904511	10904511	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10904511T>C	uc002mpt.2	+	7	1298	c.1108T>C	c.(1108-1110)Ttc>Ctc	p.F370L	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.F370L|DNM2_uc010dxl.2_Missense_Mutation_p.F370L|DNM2_uc002mpu.2_Missense_Mutation_p.F370L|DNM2_uc002mpv.2_Missense_Mutation_p.F370L|DNM2_uc002mpw.3_Missense_Mutation_p.F103L	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	370					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCACGAGCGGTTCCCATTTGA	0.642000			"""F, N, Splice, Mis, O"""		ETP ALL									109			11		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41272544	41272544	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:41272544G>A	uc001zni.3	-	35	4761	c.4548C>T	c.(4546-4548)tcC>tcT	p.S1516S	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Intron	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1516	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTCAAAGGGGAACTCAAAG	0.557000														62			9		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938077	21938077	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:21938077C>T	uc010tzj.1	-	0		c.2663G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCTGCTCATTCGCACGGGAGG	0.512000														312			21		0	0	1	0	0
SYDE1	85360	broad.mit.edu	37	19	15224482	15224482	+	Missense_Mutation	SNP	G	A	A	rs139561208	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15224482G>A	uc002nah.1	+	7	1947	c.1916G>A	c.(1915-1917)gGt>gAt	p.G639D	SYDE1_uc002nai.1_Missense_Mutation_p.G572D|SYDE1_uc002naj.1_Missense_Mutation_p.G296D	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.	639					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGGCCCCGCGGTCGAGGAGGC	0.687000														167			14		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809342	48809342	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:48809342G>A	uc002rwp.2	+	1	1684	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.D524N|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.D524N|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.D524N|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.D524N	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	524					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTATAATGGGGATAATCTTCC	0.443000														83			19		0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55748300	55748300	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:55748300T>G	uc010gip.1	-	5	1631	c.1102A>C	c.(1102-1104)Aac>Cac	p.N368H	BMP7_uc002xyc.3_Missense_Mutation_p.N368H	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	368					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ATGTAGGAGTTCAGAGGGAAG	0.627000														46			8		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156923993	156923993	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156923993C>T	uc003lwz.3	-	13	1582	c.1503G>A	c.(1501-1503)atG>atA	p.M501I	ADAM19_uc003lww.2_Missense_Mutation_p.M234I|ADAM19_uc003lwy.3_Missense_Mutation_p.M100I|ADAM19_uc011ddr.1_Missense_Mutation_p.M432I	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	501	Disintegrin.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.Q501*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGTACCATCCATCTGGTAGA	0.642000														15			4		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043953	56043953	+	Missense_Mutation	SNP	C	T	T	rs149057096	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56043953C>T	uc001nio.1	+	0	839	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S280L(2)|p.T279T(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AGCTACACTTCGGACAATGAC	0.408000														117			27		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675842	62675842	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:62675842G>A	uc021ooc.1	+	4	1831	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	L1TD1_uc001dae.4_Missense_Mutation_p.E466K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	466	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGATGGCATGGAAACTACTTT	0.438000														71			18		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776783	5776783	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5776783C>T	uc001mbu.3	+	0	861	c.813C>T	c.(811-813)atC>atT	p.I271I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AACACATAATCCCCCCTTCTT	0.453000														95			22		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148678	34148678	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:34148678G>A	uc004ddg.3	-	0	1770	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	573										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						TCGAATCTTGGGAGGCTCCGA	0.517000														29			8		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2976766	2976766	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2976766C>T	uc003smv.3	-	8	1580	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	416					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.R416W(2)|p.R416Q(2)		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)		ATCCTCATCTCGTCGTTCTTC	0.577000			Mis		DLBCL									44			10		0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970635	45970635	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45970635C>T	uc002zfi.1	-	0	754	c.707G>A	c.(706-708)cGc>cAc	p.R236H	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	236						keratin filament		p.C235W(2)		large_intestine(1)|lung(4)|skin(1)	6						GCACACGGGGCGGCAGAGGAG	0.667000														124			8		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904497	55904497	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55904497C>T	uc010riz.2	-	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTTTTTCCTTCCTTCTGGTGA	0.378000														35			4		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73163756	73163756	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:73163756C>T	uc010izf.3	+	18	2384	c.2208C>T	c.(2206-2208)tcC>tcT	p.S736S	RGNEF_uc011csq.2_Silent_p.S736S|RGNEF_uc021yam.1_Silent_p.S736S|RGNEF_uc011csr.2_Silent_p.S423S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	736					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CTTCTTCCTCCGTGCCTGTTG	0.512000														32			5		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836235	12836235	+	Silent	SNP	C	T	T	rs111797423		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12836235C>T	uc001aui.3	+	1	864	c.837C>T	c.(835-837)ctC>ctT	p.L279L		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	279										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTTTCCTCGAAGGCCACC	0.498000														144			12		0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902703	4902703	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4902703C>T	uc002mbm.3	-	0	177	c.177G>A	c.(175-177)gtG>gtA	p.V59V		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	59					signal transduction			p.L58L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AACCCCTTCCCACGAGCTCCA	0.507000														149			14		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171174591	171174591	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:171174591C>T	uc001ghk.1	+	6	1118	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	FMO2_uc010pmd.1_Missense_Mutation_p.S114F	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	334					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.F333L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATAGTTTCTCTTTTCCCTTC	0.413000														45			4		0	0	1	0	0
C1orf115	79762	broad.mit.edu	37	1	220869965	220869965	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:220869965G>A	uc001hmp.1	+	1	438	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_024709	NP_078985	Q9H7X2	CA115_HUMAN	Homo sapiens chromosome 1 open reading frame 115 (C1orf115), mRNA.	107						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		ATGTCGGGAAGGTCATCATCA	0.488000														100			6		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240977013	240977013	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:240977013C>T	uc001hyt.2	-	5	411	c.357G>A	c.(355-357)acG>acA	p.T119T	RGS7_uc010pyh.2_Silent_p.T261T|RGS7_uc010pyj.1_Silent_p.T203T|RGS7_uc001hyu.2_Silent_p.T287T|RGS7_uc009xgn.1_Silent_p.T234T|RGS7_uc001hyv.2_Silent_p.T287T|RGS7_uc001hyw.2_Silent_p.T287T	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	287					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.T287T(2)		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)			AATACTGTTCCGTGTAACTTA	0.433000														25			5		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524426	112524426	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112524426C>T	uc001ebu.1	-	1	1403	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	KCND3_uc001ebv.1_Missense_Mutation_p.R308Q	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	308						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCCCAGGATCCGCAGGCCCTG	0.562000														45			5		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	7866502	7866502	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:7866502C>T	uc010qbd.2	+	1	388	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	130					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTACCTGCCACCCATTGTGTC	0.368000														65			12		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766404	57766404	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57766404C>T	uc002yan.3	+	0	330	c.330C>T	c.(328-330)gcC>gcT	p.A110A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	110	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCCGGCGGCCCCTACGCTGA	0.687000														22			6		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878032	28878032	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:28878032C>T	uc002dri.3	+	3	1056	c.617C>T	c.(616-618)gCt>gTt	p.A206V	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Missense_Mutation_p.A206V|SH2B1_uc002drk.3_Missense_Mutation_p.A206V|SH2B1_uc002drl.3_Missense_Mutation_p.A206V|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Missense_Mutation_p.A206V|SH2B1_uc002drm.3_Missense_Mutation_p.A206V	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	206	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCTGGCGGGGCTGGGACCGTT	0.652000														58			4		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069907	63069907	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63069907C>T	uc009yor.3	+	6	1385	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	393						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTCATAGTTCGATGTCTTGC	0.433000														54			17		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433935	72433935	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:72433935C>T	uc004ebi.3	-	0	776	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	132					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCATGAAATTCCCTCAGGAAT	0.383000														67			5		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701762	81701762	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:81701762T>C	uc001kbh.3	-	4	541	c.498A>G	c.(496-498)ggA>ggG	p.G166G		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	166	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CACCTCGCTCTCCCTTAGGGC	0.617000														86			7		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140620	143140620	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143140620C>T	uc011ktg.2	+	0	75	c.75C>T	c.(73-75)ctC>ctT	p.L25L	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	25					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCATTTTACTCCTTTTACGCC	0.488000														145			16		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132403493	132403493	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:132403493C>A	uc003epe.2	-	23	3579	c.3475G>T	c.(3475-3477)Gaa>Taa	p.E1159*	NPHP3_uc003eoz.1_Nonsense_Mutation_p.E38*|NPHP3_uc003epd.2_Nonsense_Mutation_p.E401*	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	1159					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAAGCTCTTTCATAAAGTTCT	0.403000														24			8		1.12685e-05	1.13532e-05	1	1	0
FTCD	10841	broad.mit.edu	37	21	47558817	47558817	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:47558817C>T	uc002zig.3	-	10	1325	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	FTCD_uc002zie.3_Intron|FTCD_uc002zif.3_Silent_p.K427K|FTCD_uc002zih.3_Silent_p.K427K|FTCD_uc010gqf.3_Intron|FTCD_uc010gqg.1_Silent_p.K296K			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	427	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAGGTGTGTTCTTGGGGAGCC	0.632000														74			7		0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16295247	16295247	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:16295247G>A	uc003nbs.3	+	8	982	c.868G>A	c.(868-870)Ggt>Agt	p.G290S		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	290					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGCCTCTGAGGGTAAGACTGT	0.498000														33			16		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39174638	39174638	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:39174638C>T	uc003cjc.2	+	19	2856	c.2679C>T	c.(2677-2679)atC>atT	p.I893I	TTC21A_uc011ayx.1_Silent_p.I845I|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_Silent_p.I14I|TTC21A_uc003cjf.2_Silent_p.I14I	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	893							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTATCTGCATCCAATTTGCAG	0.498000														29			13		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134262	119134262	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119134262C>T	uc003ecj.4	+	11	4018	c.3486C>T	c.(3484-3486)ccC>ccT	p.P1162P		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	1162					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCAGGACCCCCAGGACCTGG	0.547000														44			13		0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34305272	34305272	+	Missense_Mutation	SNP	G	A	A	rs111316280		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:34305272G>A	uc002hkl.3	-	1	171	c.104C>T	c.(103-105)tCc>tTc	p.S35F	CCL16_uc002hkm.3_Non-coding_Transcript	NM_004590	NP_004581	O15467	CCL16_HUMAN	Homo sapiens chemokine (C-C motif) ligand 16 (CCL16), mRNA.	35					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGCAGGTGGATGGGGTGTT	0.532000														176			7		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352229	168352229	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:168352229C>T	uc021zik.1	+	28	4370	c.4051C>T	c.(4051-4053)Cct>Tct	p.P1351S	MLLT4_uc003qwb.1_Missense_Mutation_p.P1376S|MLLT4_uc003qwc.2_Missense_Mutation_p.P1392S|MLLT4_uc021zij.1_Missense_Mutation_p.P1375S|MLLT4_uc021zim.1_Missense_Mutation_p.P938S|MLLT4_uc003qwg.1_Missense_Mutation_p.P701S	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1392	Pro-rich.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.P1350P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCCACCACCCCCTTCCGCCAA	0.597000			T	MLL	AL									169			17		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582574	55582574	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:55582574C>T	uc010qhy.1	-	34	5328	c.4933G>A	c.(4933-4935)Gaa>Aaa	p.E1645K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1640K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1615K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1635K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1598K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1569K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1640K|PCDH15_uc010qia.1_Missense_Mutation_p.E1618K|PCDH15_uc001jju.1_Missense_Mutation_p.E1638K|PCDH15_uc010qib.1_Missense_Mutation_p.E1615K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1638					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)				TGCCTTATTTCCTCTTTCTCT	0.398000										HNSCC(58;0.16)				98			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049971	9049971	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9049971G>A	uc002mkp.3	-	4	31864	c.31660C>T	c.(31660-31662)Ccc>Tcc	p.P10554S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10556	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						GTTGTCCTGGGAAGAGCTGTG	0.488000														172			44		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60503777	60503777	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:60503777C>T	uc001czs.2	-	5	858	c.750G>A	c.(748-750)gtG>gtA	p.V250V		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	250							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTCATAATTCACCTGAAAAT	0.333000														21			6		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554593	44554593	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44554593C>T	uc010xdb.2	-	0	1857	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.G541R(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GAGAATCTTCCCTTGTAGTCT	0.577000														477			6		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104973337	104973337	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:104973337G>A	uc003yls.3	+	12	2321	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N	RIMS2_uc003ylp.3_Missense_Mutation_p.D916N|RIMS2_uc003ylw.2_Missense_Mutation_p.D708N|RIMS2_uc003ylq.3_Missense_Mutation_p.D708N|RIMS2_uc003ylr.3_Missense_Mutation_p.D755N|RIMS2_uc003ylt.3_Missense_Mutation_p.D301N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	978	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTATGACTGTGATGATGGAAT	0.274000										HNSCC(12;0.0054)				70			5		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950766	38950766	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38950766G>A	uc003jlo.2	-	30	3206	c.3184C>T	c.(3184-3186)Ctt>Ttt	p.L1062F	RICTOR_uc003jlp.2_Missense_Mutation_p.L1062F|RICTOR_uc010ivf.2_Missense_Mutation_p.L777F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1062					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGATATCAAGGAAAAATGTG	0.348000														77			7		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651261	84651261	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:84651261A>C	uc002bjz.4	+	20	3105	c.2881A>C	c.(2881-2883)Atc>Ctc	p.I961L	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.I961L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	961	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACGGCTTGGCATCACCAAGTC	0.537000														87			9		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117116893	117116893	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117116893G>A	uc003pxj.1	-	4	1676	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	GPRC6A_uc003pxk.1_Missense_Mutation_p.H377Y|GPRC6A_uc003pxl.1_Missense_Mutation_p.H481Y	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	552					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)		TTAGTGTAATGATTTTCAGGA	0.363000														104			9		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182322478	182322478	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:182322478C>T	uc002unu.3	+	0	860	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	ITGA4_uc010zfl.1_Missense_Mutation_p.P33S	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	33					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)	GACCGGCCGCCCCTACAACGT	0.697000														29			4		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70908242	70908242	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:70908242G>A	uc002ezr.3	-	63	11062	c.10911C>T	c.(10909-10911)atC>atT	p.I3637I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3638								p.I3637I(1)|p.I3589I(1)		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)				TGTCCTCGATGATCTCTGTGA	0.488000														105			14		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152719765	152719765	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152719765G>A	uc021zhb.1	-	46	7562	c.7339C>T	c.(7339-7341)Cat>Tat	p.H2447Y	SYNE1_uc003qot.4_Missense_Mutation_p.H2454Y|SYNE1_uc003qou.4_Missense_Mutation_p.H2447Y|SYNE1_uc010kjb.1_Missense_Mutation_p.H2430Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2447					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)		TGAAGATCATGGAGCTTTGCT	0.443000										HNSCC(10;0.0054)				45			10		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48338074	48338074	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:48338074C>T	uc003toq.2	+	22	9335	c.9311C>T	c.(9310-9312)tCc>tTc	p.S3104F	ABCA13_uc010kys.1_Missense_Mutation_p.S178F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3104					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						GCAAATATTTCCCACTCCAAG	0.433000														31			8		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104165167	104165167	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:104165167C>T	uc001kvg.1	-	11	2789	c.2262G>A	c.(2260-2262)ggG>ggA	p.G754G	PSD_uc001kvh.1_Silent_p.G375G|PSD_uc009xxd.1_Silent_p.G754G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	754					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGACGGCAGCCCCAGGCTCGG	0.662000														134			22		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54373525	54373525	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:54373525T>C	uc003hag.4	-	3	990	c.734A>G	c.(733-735)gAc>gGc	p.D245G	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D149G|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	245						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTGCCCTGGTCGGCATGGTT	0.488000														48			6		0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538771	31538771	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:31538771G>A	uc011acv.2	-	0	201	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	55					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGGCTTGTCGGATGCAATTCA	0.542000														95			9		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111399776	111399776	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:111399776C>T	uc002tgc.3	-	19	2495	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K	BUB1_uc010yxh.2_Missense_Mutation_p.E775K|BUB1_uc010fkb.3_Missense_Mutation_p.E795K	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	795	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAGGCTCCTTCTCCAAGAAGG	0.343000														38			5		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73740949	73740949	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73740949C>T	uc004ebt.2	+	1	943	c.777C>T	c.(775-777)ctC>ctT	p.L259L		NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	185						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCATTGGCCTCCATACCAGCT	0.498000														30			11		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692204	116692204	+	Silent	SNP	G	A	A	rs145525856	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:116692204G>A	uc001pps.1	-	2	674	c.570C>T	c.(568-570)atC>atT	p.I190I		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGTTCTGGTCGATCTTGGCCT	0.637000														164			13		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750118	234750118	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234750118G>A	uc002vvg.3	-	7	1374	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	HJURP_uc010znd.2_Silent_p.I375I|HJURP_uc010zne.2_Silent_p.I344I	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	436					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)		GATCAAATCGGATTTCAATCT	0.488000														91			14		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704166	113704166	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:113704166C>T	uc011lwo.2	-	1	333	c.331G>A	c.(331-333)Gga>Aga	p.G111R	LPAR1_uc004bfa.3_Missense_Mutation_p.G110R|LPAR1_uc011lwm.2_Missense_Mutation_p.G111R|LPAR1_uc004bfc.3_Missense_Mutation_p.G110R|LPAR1_uc011lwn.2_Missense_Mutation_p.G92R|LPAR1_uc004bfb.3_Missense_Mutation_p.G110R|LPAR1_uc010mub.3_Missense_Mutation_p.G110R	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	110					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTATTGGGTCCTGTGTTGAAC	0.502000														140			17		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086300	175086300	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175086300G>A	uc001gkl.1	+	9	2458	c.2345G>A	c.(2344-2346)gGg>gAg	p.G782E		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	782	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCAGAAGGGGGCCCAGGAG	0.577000														89			8		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321084	2321084	+	Missense_Mutation	SNP	C	T	T	rs147532262		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2321084C>T	uc002wfx.4	+	12	2036	c.1939C>T	c.(1939-1941)Ccg>Tcg	p.P647S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	647					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.P647P(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATCAGCGTGCCGACCCTAGG	0.612000														92			7		0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163002090	163002090	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:163002090C>T	uc002ucc.3	-	3	608	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	118					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	GCAATGAATTCCTTGGCAGCT	0.418000														134			11		0	0	1	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743021	13743021	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:13743021G>A	uc009voa.1	+	1	309	c.210G>A	c.(208-210)atG>atA	p.M70I		NM_001099852	NP_001093584	Q5VT98	PRA20_HUMAN	Homo sapiens PRAME family member 20 (PRAMEF20), mRNA.	70										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCTCTGATGAAAAGGCCTT	0.597000														46			6		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2944669	2944669	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:2944669C>T	uc022aqr.1	-	48	7814	c.7424G>A	c.(7423-7425)cGa>cAa	p.R2475Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R1805Q|CSMD1_uc010lrg.3_Missense_Mutation_p.R544Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2476	Sushi 14.					integral to membrane		p.R2204P(1)|p.R2204Q(1)|p.R2475P(1)|p.R2475Q(1)		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)		AAGTGGGTTTCGTCTACAGGT	0.507000														36			4		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657439	46657439	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46657439C>T	uc003oyj.3	+	0	1828	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	TDRD6_uc010jze.3_Missense_Mutation_p.S525F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	525					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGTTTCTATTCCTCTGCCAGT	0.413000														124			8		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67220152	67220152	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:67220152C>T	uc001olm.3	-	0	49	c.44G>A	c.(43-45)aGg>aAg	p.R15K	CABP4_uc009yrw.1_Intron|CABP4_uc001oln.3_Intron|CABP4_uc001olo.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	15						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGTGCGGGGCCTGTGGCCAGT	0.622000														32			14		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169253	138169253	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:138169253G>A	uc002tva.1	+	12	2677	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.D783N	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTCCTTGTGATGAATTTAT	0.453000														77			17		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160998245	160998245	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:160998245G>A	uc003qtl.3	-	28	4674	c.4554C>T	c.(4552-4554)gtC>gtT	p.V1518V		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4026	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCCTTCCTGTGACAGTGGTGG	0.443000														97			24		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110921	81110921	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81110921G>A	uc001szg.2	+	0	214	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	27					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622000														39			5		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172357743	172357743	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:172357743G>A	uc001gie.3	+	19	2492	c.2316G>A	c.(2314-2316)agG>agA	p.R772R	DNM3_uc001gif.3_Silent_p.R768R|DNM3_uc001gih.1_Silent_p.R128R	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	778					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						CAACCCAAAGGAGGCCAACAC	0.542000														24			6		0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797363	29797363	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29797363G>A	uc003nnw.2	+	4	966	c.788G>A	c.(787-789)gGa>gAa	p.G263E	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.G235E|HLA-G_uc003raj.3_Missense_Mutation_p.G268E|HLA-G_uc003nnz.3_Missense_Mutation_p.G171E|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|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.	263	Alpha-3.|Ig-like C1-type.				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	p.D262D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCAGGGGATGGAACCTTCCAG	0.632000														110			27		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21343407	21343407	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:21343407G>A	uc002kuq.3	+	7	1188	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	LAMA3_uc010dlv.2_Missense_Mutation_p.D368N|LAMA3_uc002kur.3_Missense_Mutation_p.D368N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	368	Domain V.|Laminin EGF-like 2.				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)	CTGTTACTATGATCCAGATGT	0.438000														44			11		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824732	125824732	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:125824732C>T	uc003eim.1	-	21	2680	c.2490G>A	c.(2488-2490)acG>acA	p.T830T	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.T729T|ALDH1L1_uc003ein.1_Silent_p.T365T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	830	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGCCAAATTCCGTGGCATTGG	0.572000														63			19		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117561029	117561029	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117561029C>T	uc010oxb.1	+	5	1922	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	CD101_uc009whd.3_Missense_Mutation_p.R622C|CD101_uc010oxc.1_Missense_Mutation_p.R622C|CD101_uc010oxd.1_Missense_Mutation_p.R560C	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	622	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTCTTTATTTCGTTCACAACT	0.448000														96			35		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189455616	189455616	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189455616C>T	uc003fry.2	+	1	239	c.150C>T	c.(148-150)ctC>ctT	p.L50L	TP63_uc003frx.2_Silent_p.L50L|TP63_uc003frz.2_Silent_p.L50L|TP63_uc010hzc.1_Silent_p.L50L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	50	Transcription activation.				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)		ATGAATTCCTCAGTCCAGAGG	0.398000										HNSCC(45;0.13)				48			25		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121725998	121725998	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121725998G>A	uc003ees.3	-	1	272	c.69C>T	c.(67-69)tcC>tcT	p.S23S	ILDR1_uc003eeq.3_Silent_p.S35S|ILDR1_uc003eer.3_Silent_p.S23S|ILDR1_uc010hrg.3_Silent_p.S23S	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	23						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCACAAGCAAGGACAGGCACC	0.502000														49			4		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054975	29054975	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29054975G>A	uc003nlx.3	-	0	116	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.G16V(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCCTATCTGAGAAGCCAAGTA	0.393000														66			8		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87173569	87173569	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87173569G>A	uc003uiz.2	-	17	2580	c.2087C>T	c.(2086-2088)tCc>tTc	p.S696F	ABCB1_uc011khc.2_Missense_Mutation_p.S632F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	696					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTCCAAAAGGAAACTGGAGG	0.328000														37			4		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141418911	141418911	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141418911G>A	uc003vwn.2	+	3	1031	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	209					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TTCCCGCTATGAAAAAGAATT	0.348000														68			13		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980020	76980020	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76980020C>T	uc001oyf.3	-	7	824	c.573G>A	c.(571-573)aaG>aaA	p.K191K		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	191					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCAAATTCTCCTTCTCCTGAA	0.453000														105			5		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96061529	96061529	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:96061529G>A	uc004ati.1	+	24	6212	c.6212G>A	c.(6211-6213)gGa>gAa	p.G2071E	WNK2_uc011lud.1_Missense_Mutation_p.G2034E|WNK2_uc004atj.3_Missense_Mutation_p.G2034E|WNK2_uc004atk.3_Intron|WNK2_uc004atl.1_Missense_Mutation_p.G628E	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2071					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						GATGGAGGCGGAGCGCGTGGC	0.652000														36			9		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851849	97851849	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:97851849C>T	uc011bgt.2	+	0	308	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(2)|p.S103S(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CAGTTTTTTTCGTTTGCAATC	0.393000														151			31		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165175186	165175186	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:165175186G>A	uc001gcz.2	-	7	1097	c.903C>T	c.(901-903)gcC>gcT	p.A301A	LMX1A_uc021pdz.1_Silent_p.A301A|LMX1A_uc021pdy.1_Silent_p.A52A|LMX1A_uc001gcw.2_Silent_p.A19A	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTGCTCGATGGCCAGGAGCT	0.567000														53			13		0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110112665	110112665	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:110112665G>A	uc003ptt.2	+	19	2482	c.2267G>A	c.(2266-2268)aGc>aAc	p.S756N	FIG4_uc011eau.1_Missense_Mutation_p.S479N	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	756	Poly-Ser.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCTGTGTCCAGCAGCTCTGAG	0.542000														81			8		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376431	113376431	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113376431G>A	uc003eam.3	-	6	4509	c.4098C>T	c.(4096-4098)acC>acT	p.T1366T	KIAA2018_uc003eal.3_Silent_p.T1310T	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1366					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAGAAATGGTGTCTGGAG	0.473000														53			18		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44598277	44598277	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44598277G>A	uc002xqw.3	-	2	378	c.255C>T	c.(253-255)ctC>ctT	p.L85L	ZNF335_uc010zxk.2_Intron|ZNF335_uc002xqx.1_Silent_p.L53L|ZNF335_uc002xqy.3_5'Flank	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGAATCAGGGAGGTAGCTAT	0.582000											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			18		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541225	55541225	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55541225C>T	uc003xsd.1	+	3	4931	c.4783C>T	c.(4783-4785)Cgg>Tgg	p.R1595W	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1595			R -> Q (in dbSNP:rs35084330).		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)			GTCAGACTATCGGCCTGACAG	0.398000														57			5		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579081	44579081	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:44579081G>A	uc003tlb.3	-	1	971	c.915C>T	c.(913-915)ttC>ttT	p.F305F	NPC1L1_uc011kbw.2_Silent_p.F305F|NPC1L1_uc003tlc.3_Silent_p.F305F|NPC1L1_uc003tld.3_Silent_p.F305F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	305					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGGCCACACGGAATCCCACAA	0.602000														100			8		0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102781284	102781284	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:102781284G>A	uc002tbq.3	+	3	430	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	IL1R1_uc010fix.3_Missense_Mutation_p.E38K|IL1R1_uc002tbr.3_Missense_Mutation_p.E38K	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	38	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATCTGCAAATGAAATTGATGT	0.363000														48			4		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749533	196749533	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196749533C>T	uc002utj.4	-	35	5640	c.5539_splice	c.e35-1	p.G1847_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1847					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAAAAATGCCCTGCATTGGA	0.348000														32			5		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557778	149557778	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149557778C>T	uc010lpn.3	+	6	1721	c.1529C>T	c.(1528-1530)cCt>cTt	p.P510L		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TACACGGGGCCTTTTAAAGTG	0.463000														95			7		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716623	13716623	+	Silent	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:13716623C>G	uc001rbt.2	-	12	3728	c.3549G>C	c.(3547-3549)acG>acC	p.T1183T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1183					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGTCGCCCGTCCCGTGCT	0.617000														66			15		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672439	186672439	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:186672439G>A	uc002upl.3	+	16	18673	c.18673G>A	c.(18673-18675)Gga>Aga	p.G6225R	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTATTTTTGTGGAGAGCTAAC	0.403000														86			10		0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125787044	125787044	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:125787044C>T	uc001qcz.4	+	8	1077	c.936C>T	c.(934-936)atC>atT	p.I312I	DDX25_uc010sbk.2_Silent_p.I312I	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	312	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TGAACAACATCCGGCAATATT	0.478000														27			4		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160145912	160145912	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160145912C>T	uc001fve.4	+	15	2821	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.S284F|ATP1A4_uc001fvh.3_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	781					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGAAGAAATCCATCATGTAC	0.562000														209			35		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94858841	94858841	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:94858841G>A	uc002btj.3	+	2	677	c.612G>A	c.(610-612)cgG>cgA	p.R204R	MCTP2_uc010urg.1_Silent_p.R204R|MCTP2_uc002bti.2_Silent_p.R204R|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.R204R|MCTP2_uc002btg.4_Silent_p.R204R|MCTP2_uc002bth.4_Silent_p.R204R	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	204	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGGAAGGCCGGAACCTGGTTG	0.527000														28			6		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448514	49448514	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49448514C>T	uc001jgi.3	-	5	920	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E166K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E166K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	197	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GAGGAGCTTTCCTCCACAACT	0.557000														37			4		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133190	46133190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46133190G>A	uc003oxz.1	-	2	1148	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	ENPP5_uc010jzc.1_Nonsense_Mutation_p.Q314*|ENPP5_uc011dvz.1_Nonsense_Mutation_p.Q220*|ENPP5_uc003oya.1_Nonsense_Mutation_p.Q314*	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	314						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATGATTGGTTGAATTCGACTG	0.383000														143			8		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143020464	143020464	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143020464C>T	uc003wcr.1	+	5	846	c.759C>T	c.(757-759)ttC>ttT	p.F253F	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Intron|CLCN1_uc010loy.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	253					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTCTGTGTTCTGCGGGGTAT	0.607000														75			8		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427891	119427891	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119427891G>A	uc001ehl.1	-	7	1270	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	TBX15_uc009whj.1_Nonsense_Mutation_p.Q143*	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	425						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGCCACTCTGAAGCCTGTTG	0.542000														51			13		0	0	1	0	0
DQ578661	0	broad.mit.edu	37	17	28886626	28886626	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:28886626C>T	uc021tue.1	-	1		c.1_splice	c.e1-1		TBC1D29_uc002hfh.3_5'UTR|TBC1D29_uc002hfi.3_Non-coding_Transcript					Homo sapiens piRNA piR-43520, complete sequence.																		GCTCTGATTTCATGACGGGCT	0.617000														66			13		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505081	11505081	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:11505081G>A	uc001iks.1	-	13	1940	c.1897C>T	c.(1897-1899)Ccg>Tcg	p.P633S	USP6NL_uc001ikt.3_Missense_Mutation_p.P616S	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	616						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCTGGGACGGATATCGTGCA	0.527000														40			7		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027575	161027575	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161027575C>T	uc003qtl.3	-	17	2839	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3415	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCAGTCCCTTCTGCGTCTGAG	0.542000														134			21		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011256	105011256	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105011256G>A	uc004elz.1	+	10	2419	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	555	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGTATATGAAATGCCCAT	0.423000														91			31		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177098682	177098682	+	Silent	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:177098682T>G	uc003iuj.3	+	29	4029	c.3726T>G	c.(3724-3726)acT>acG	p.T1242T	WDR17_uc003ium.4_Silent_p.T1203T|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Silent_p.T453T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1242										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)		TTTATGCAACTTTATTAAAGA	0.318000														67			3		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060253	116060253	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:116060253G>A	uc001lbn.3	-	13	2040	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	AFAP1L2_uc001lbo.3_Missense_Mutation_p.P580L|AFAP1L2_uc010qse.2_Missense_Mutation_p.P633L|AFAP1L2_uc001lbp.3_Missense_Mutation_p.P608L|AFAP1L2_uc001lbr.1_Missense_Mutation_p.P580L|AFAP1L2_uc001lbm.3_Intron|AFAP1L2_uc010qsd.2_Missense_Mutation_p.P146L|AFAP1L2_uc001lbq.1_Missense_Mutation_p.P102L	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	580					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)		ATCTGGGGTGGGACCTGGGCC	0.642000														78			18		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30046450	30046450	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:30046450G>A	uc001wqh.3	-	17	2914	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	911					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GAACTCAGAGGATGCTGACAC	0.443000														45			5		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777278	123777278	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123777278C>T	uc010saa.2	+	0	140	c.140C>T	c.(139-141)tCa>tTa	p.S47L		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AGCATGATCTCAATTATTAGG	0.408000														98			11		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680313	95680313	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:95680313G>A	uc003ygq.4	+	9	1251	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ESRP1_uc003ygr.4_Silent_p.K356K|ESRP1_uc003ygs.4_Silent_p.K356K|ESRP1_uc003ygt.4_Silent_p.K356K|ESRP1_uc003ygu.4_Silent_p.K356K|ESRP1_uc003ygv.3_Silent_p.K196K|ESRP1_uc003ygw.3_Silent_p.K196K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	356	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTGGGGGAAAGGAAGGCATCC	0.527000														73			11		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563774	55563774	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55563774C>G	uc010rim.2	+	0	743	c.743C>G	c.(742-744)aCt>aGt	p.T248S		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCCCACCTGACTTCTATCACC	0.453000														48			7		0	0	1	0	0
SNX29P2	440352	broad.mit.edu	37	16	29376022	29376022	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:29376022G>A	uc002dsj.1	+	4	761	c.364G>A	c.(364-366)Gag>Aag	p.E122K	NPIPL1_uc010vct.2_Intron|SNX29P2_uc021tfv.1_Non-coding_Transcript|SNX29P2_uc010bys.1_Non-coding_Transcript|SNX29P2_uc021tfw.1_Missense_Mutation_p.E103K					Homo sapiens RUN domain containing 2C (RUNDC2C), non-coding RNA.																		ATGCAAAAAGGAGCGGAAGAA	0.368000														39			3		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826118	43826118	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:43826118C>T	uc010skx.2	-	20	3085	c.3085G>A	c.(3085-3087)Gaa>Aaa	p.E1029K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E183K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E183K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1029	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCGCTCCATTCACTAGCAGCC	0.383000														43			5		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486411	65486411	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:65486411C>T	uc011moz.2	+	20	3673	c.3536C>T	c.(3535-3537)gCt>gTt	p.A1179V	HEPH_uc004dwn.3_Missense_Mutation_p.A1127V|HEPH_uc004dwo.3_Missense_Mutation_p.A858V|HEPH_uc010nkr.3_Missense_Mutation_p.A936V|HEPH_uc011mpa.2_Missense_Mutation_p.A1128V	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1125					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						GTTGTTCTGGCTCTTGGTGGA	0.483000														31			8		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151727477	151727477	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:151727477G>A	uc010ipj.3	-	32	5708	c.5464C>T	c.(5464-5466)Ctt>Ttt	p.L1822F	LRBA_uc003ilt.4_Missense_Mutation_p.L481F|LRBA_uc003ilu.4_Missense_Mutation_p.L1822F	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1822						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTCCGAGAAAGAAAAGGTGCA	0.368000														17			8		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113485720	113485720	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:113485720C>T	uc001vsj.4	+	12	1341	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	ATP11A_uc001vsi.4_Missense_Mutation_p.T418I|ATP11A_uc001vsm.1_Missense_Mutation_p.T294I	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	418					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(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGACCGGCACCCTCACGGAA	0.607000														41			8		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110467064	110467064	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110467064G>A	uc003yne.3	+	44	6961	c.6857G>A	c.(6856-6858)gGa>gAa	p.G2286E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2286	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGCGGGAGGGAATCCTGGAT	0.507000										HNSCC(38;0.096)				20			4		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91660736	91660736	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:91660736C>T	uc004aqf.2	-	8	1433	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	376	CH1.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TAAGTCTGCTCTTTTCCTGCA	0.423000														51			9		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72301378	72301378	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72301378G>A	uc002jkf.3	+	8	1118	c.1008G>A	c.(1006-1008)ggG>ggA	p.G336G	DNAI2_uc002jkg.3_Silent_p.G336G|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_3'UTR|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	336					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.G336E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCATGGTGGGGACCGAGCAGG	0.582000									Kartagener syndrome					47			6		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34033266	34033266	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34033266G>A	uc001bxm.1	-	52	8484	c.8307C>T	c.(8305-8307)ttC>ttT	p.F2769F	CSMD2_uc001bxn.1_Silent_p.F2746F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2746	Sushi 18.					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)				CGATCAGGCGGAAGCCAGCAT	0.557000														44			10		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533290	88533290	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:88533290G>A	uc003hqu.3	+	2	205	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	29					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGACATGTCGAAAAATCCAT	0.368000														24			3		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872281	51872281	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51872281G>A	uc002xwo.3	+	1	3171	c.2284G>A	c.(2284-2286)Gat>Aat	p.D762N	TSHZ2_uc021wex.1_Missense_Mutation_p.D759N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	762					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAGAACAGCGATCAGCCCAT	0.532000														88			16		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160221850	160221850	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:160221850C>T	uc003qsy.1	+	1	162	c.123C>T	c.(121-123)ccC>ccT	p.P41P	PNLDC1_uc003qsx.1_Silent_p.P30P	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	30						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGTCTGGGCCCCAGCAGATCA	0.557000														113			13		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85466569	85466569	+	Silent	SNP	C	T	T	rs150088516		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:85466569C>T	uc003pkl.1	-	3	618	c.618G>A	c.(616-618)tcG>tcA	p.S206S	TBX18_uc010kbq.2_Silent_p.S48S	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	206					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S206L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCATCCATTTCGAACTGTGGT	0.488000														34			6		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510406	56510406	+	Silent	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56510406G>C	uc010rjo.2	-	0	882	c.882C>G	c.(880-882)acC>acG	p.T294T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTTGATCACGGTGTAGAACA	0.438000														72			5		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957196	143957196	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:143957196G>A	uc010mey.3	-	7	1273	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	CYP11B1_uc010mex.3_Silent_p.I27I|CYP11B1_uc003yxh.3_Silent_p.I67I|CYP11B1_uc003yxi.3_Silent_p.I351I|CYP11B1_uc003yxj.3_Silent_p.I351I	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	351					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.E421Q(1)|p.R422G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GATGTTCACTGATGCTGGCTG	0.657000									Familial Hyperaldosteronism type I					137			9		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425860	75425860	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:75425860C>T	uc002sng.2	-	0	786	c.201G>A	c.(199-201)acG>acA	p.T67T	TACR1_uc002snh.3_Silent_p.T67T	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GAAAATAGTTCGTCACTGTCC	0.512000														33			6		0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158716371	158716371	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:158716371C>T	uc003woe.4	+	16	2362	c.2204C>T	c.(2203-2205)tCt>tTt	p.S735F	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Missense_Mutation_p.S367F	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	735										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTGCATTACTCTGTGACGCTG	0.527000														116			45		0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104115787	104115787	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104115787G>A	uc010ouo.2	+	14	2122	c.418G>A	c.(418-420)Gac>Aac	p.D140N	AMY2B_uc001duq.3_Missense_Mutation_p.D140N|AMY2B_uc001dur.3_Missense_Mutation_p.D140N|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	140					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			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)		TGGAAGTAGGGACTTTCCAGC	0.403000														614			93		0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288522	144288522	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:144288522G>A	uc003weq.3	-	6	598	c.495C>T	c.(493-495)ctC>ctT	p.L165L	TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	165					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.L165I(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCACTGGTTGGAGCAGGTAGA	0.423000														145			8		0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986972	46986972	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:46986972C>T	uc021vgx.1	+	0	1303	c.1303C>T	c.(1303-1305)Cac>Tac	p.H435Y	SOCS5_uc002rvf.3_Missense_Mutation_p.H435Y|SOCS5_uc002rvg.3_Missense_Mutation_p.H435Y	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	435	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCAGTGGAATCACAACTTTAG	0.483000														104			20		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960341	73960341	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73960341G>A	uc004eby.3	-	2	4668	c.4051C>T	c.(4051-4053)Ccc>Tcc	p.P1351S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1351					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						AATATGTTGGGATCCCCATGG	0.458000														30			17		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591720	46591720	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:46591720C>T	uc009zkj.1	-	14	1931	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	SLC38A1_uc001rpb.3_Missense_Mutation_p.D416N|SLC38A1_uc001rpc.3_Missense_Mutation_p.D416N|SLC38A1_uc001rpd.3_Missense_Mutation_p.D416N|SLC38A1_uc001rpe.3_Missense_Mutation_p.D416N|SLC38A1_uc001rpa.3_Missense_Mutation_p.D416N	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	416					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCAAAAATATCCTTCATGGAG	0.383000														55			6		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84639263	84639263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:84639263C>T	uc002bjz.4	+	19	2742	c.2518C>T	c.(2518-2520)Cag>Tag	p.Q840*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.Q840*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	840	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTGGAATCCAGAGAAGAAA	0.522000														97			11		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520255	84520255	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	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														38			9		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47451380	47451380	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:47451380G>A	uc003tnw.3	-	12	1026	c.668C>T	c.(667-669)cCc>cTc	p.P223L	TNS3_uc010kyo.1_Missense_Mutation_p.P223L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	223	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GATCCTGCTGGGGTTTTCTGG	0.517000														19			6		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644078	35644078	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:35644078C>T	uc021rid.1	+	8	1807	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	NBEA_uc021ric.1_Missense_Mutation_p.H425Y	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	425						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)		GAGTGATATTCATTTGGCAGA	0.343000														17			6		0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99102183	99102183	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:99102183G>A	uc003yih.1	+	1	1086	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	313	Glu-rich.							p.R313Q(4)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CATCCAGCACGAAATGTAGAG	0.438000														67			8		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546932	37546932	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:37546932G>A	uc002xje.3	+	10	1516	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	PPP1R16B_uc010ggc.3_Missense_Mutation_p.D401N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	443					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.D443V(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGCCAACGGGGATGTCTGGAA	0.607000														205			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597992	179597992	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179597992G>A	uc021vsy.1	-	50	12521	c.12296C>T	c.(12295-12297)tCc>tTc	p.S4099F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S760F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5026							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)			AGTCTCACAGGAGCTGCTGCC	0.388000														82			10		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086638	56086638	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56086638C>T	uc010rjf.2	+	0	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CATGTTGAATCCCTTGATCTA	0.353000														24			3		0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474602	99474602	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99474602C>T	uc003usc.1	-	0	55	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGGAGTCATCGAAGAGCCCC	0.493000														61			12		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40037160	40037160	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:40037160C>T	uc003ayc.3	+	5	1029	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CACNA1I_uc003ayd.3_Silent_p.I343I|CACNA1I_uc003aye.3_Silent_p.I258I|CACNA1I_uc003ayf.3_Silent_p.I258I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	343					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTGACAACATCGGTTATGCTT	0.592000														61			5		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394133	233394133	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:233394133G>A	uc001hvl.2	-	4	1710	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	492						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCGGGACACCGATTCCCAGGG	0.537000														45			6		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161522950	161522950	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161522950G>A	uc003qtn.3	+	17	3843	c.3701G>A	c.(3700-3702)cGa>cAa	p.R1234Q	MAP3K4_uc010kkc.1_Missense_Mutation_p.R1230Q|MAP3K4_uc003qto.3_Missense_Mutation_p.R1184Q|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.R687Q|MAP3K4_uc003qtp.3_Missense_Mutation_p.R170Q|MAP3K4_uc003qtq.3_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1234					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAAATGATCGATTGGCTTCC	0.408000														25			7		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011607	32011607	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32011607G>A	uc003nzl.2	-	34	11645	c.11443C>T	c.(11443-11445)Cca>Tca	p.P3815S	TNXB_uc003nzg.1_Missense_Mutation_p.P246S|TNXB_uc003nzh.1_Missense_Mutation_p.P284S	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3862	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGAGCGCCTGGGATCAGCCCC	0.627000														132			34		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7095250	7095250	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7095250G>A	uc010vtn.2	-	16	2018	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	DLG4_uc010vtm.2_Intron|DLG4_uc010cly.3_Silent_p.I643I|DLG4_uc002get.4_Silent_p.I689I|DLG4_uc010vto.2_Silent_p.I686I	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	646	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TGAAGATGGCGATGGGGTGCA	0.692000														86			30		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137374655	137374655	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:137374655C>T	uc003vtt.3	-	1	496	c.495G>A	c.(493-495)gcG>gcA	p.A165A	DGKI_uc003vtu.3_Intron	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	165					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	p.A165T(1)		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						AGTCCAAAGTCGCTCTGGGCT	0.522000														53			4		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777236	123777236	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123777236G>A	uc010saa.2	+	0	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCTTCTTAGGAATTTACACA	0.423000														76			7		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227872792	227872792	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:227872792G>A	uc021vxr.1	-	45	4852	c.4751C>T	c.(4750-4752)tCc>tTc	p.S1584F	COL4A4_uc021vxs.1_Missense_Mutation_p.S1581F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1584	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGGGGGATGGACTGGTCCTG	0.617000														33			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167544	140167544	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140167544G>A	uc003lhb.2	+	0	1669	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.D557N	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	571	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)			GTTCGTGCTGGACGAGAACGA	0.672000														114			11		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115391348	115391348	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:115391348C>T	uc001lal.3	-	17	1926	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	NRAP_uc009xyb.3_5'Flank|NRAP_uc001laj.3_Missense_Mutation_p.E588K|NRAP_uc001lak.3_Missense_Mutation_p.E553K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	588						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)		TTTGTCTTTTCATATTCTTCT	0.428000														65			9		0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	142649	142649	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:142649G>A	uc002cfr.3	-	10	1230	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	NPRL3_uc010uua.1_Non-coding_Transcript|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Missense_Mutation_p.S291F|NPRL3_uc021szm.1_Missense_Mutation_p.S344F|NPRL3_uc021szn.1_Missense_Mutation_p.S344F|NPRL3_uc002cfq.3_Missense_Mutation_p.S190F	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	369							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GACCGGCAAGGAGAACTTGGC	0.592000														20			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498736	179498736	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179498736C>T	uc021vsy.1	-	179	35011	c.34786G>A	c.(34786-34788)Gaa>Aaa	p.E11596K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5291K|TTN_uc021vta.1_Missense_Mutation_p.E5224K|TTN_uc021vtb.1_Missense_Mutation_p.E5099K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12523	Glu-rich.|Pro-rich.						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)			TGAGAAAGTTCACAAACAAAA	0.373000														106			9		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745677	30745677	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30745677C>T	uc002wxj.2	+	13	1645	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	TM9SF4_uc010zts.1_Silent_p.F377F|TM9SF4_uc002wxk.2_Silent_p.F453F	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	470						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTACTACTTCGGCTTCCGAA	0.582000														159			10		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142263	3142263	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:3142263C>T	uc002ctv.1	-	1	374	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Intron|ZSCAN10_uc002ctx.1_Missense_Mutation_p.E24K	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	96					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CACCCCTTTTCCTCCAAGGTG	0.562000														73			4		0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619363	52619363	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:52619363G>A	uc002pym.3	-	3	1337	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CATTTATATGGTTTCTTTCCT	0.403000														128			23		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560235	92560235	+	Missense_Mutation	SNP	G	A	A	rs141144398		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:92560235G>A	uc010tif.2	+	5	1691	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	442						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.G442E(2)		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)				GCCCAGTCTGGAAATCCTGAA	0.373000														35			8		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40933179	40933179	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40933179G>A	uc002ibj.3	+	0	531	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	155					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCGGGAGCAGGAAGAAAAGGA	0.647000														57			6		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212570074	212570074	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:212570074C>T	uc002veg.1	-	9	1265	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	ERBB4_uc002veh.1_Silent_p.L389L|ERBB4_uc010zji.1_Silent_p.L389L|ERBB4_uc010zjj.1_Silent_p.L389L|ERBB4_uc010fut.1_Silent_p.L389L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	389					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAAAGACGTTCAGTTTCTCTG	0.323000										TSP Lung(8;0.080)				86			7		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50214261	50214261	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:50214261G>A	uc003cyj.3	+	6	808	c.610G>A	c.(610-612)Gat>Aat	p.D204N	SEMA3F_uc003cyk.3_Missense_Mutation_p.D173N	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	204	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTGTCCGTACGATCCCAAGCT	0.607000														68			4		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175972	57175972	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57175972A>C	uc010ygn.2	-	1	822	c.595T>G	c.(595-597)Tgc>Ggc	p.C199G		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						GCCTTGCCGCAGTCGGCGCAG	0.731000														17			3		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497628	1497628	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:1497628G>A	uc003wpl.3	+	1	866	c.769G>A	c.(769-771)Gac>Aac	p.D257N	DLGAP2_uc003wpm.3_Missense_Mutation_p.D257N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	336					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)		CCCCTTCGGGGACCTGTCCCT	0.672000														111			13		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945978	72945978	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:72945978C>T	uc021qna.1	+	0	774	c.774C>T	c.(772-774)ttC>ttT	p.F258F	P2RY2_uc001otk.3_Silent_p.F258F|P2RY2_uc001otj.3_Silent_p.F258F|P2RY2_uc001otl.3_Silent_p.F258F	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	258					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCCTCTGCTTCCTGCCATTCC	0.637000														78			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598207	179598207	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179598207C>T	uc021vsy.1	-	50	12306	c.12081G>A	c.(12079-12081)caG>caA	p.Q4027Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.Q688Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4954							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)			CTGCTGTCACCTGGATCAGTT	0.473000														209			12		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168271636	168271636	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168271636G>T	uc010jjg.3	-	5	930	c.510C>A	c.(508-510)agC>agA	p.S170R	SLIT3_uc003mab.3_Missense_Mutation_p.S170R|SLIT3_uc010jji.2_Missense_Mutation_p.S170R|SLIT3_uc003mac.1_5'UTR	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	170					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)			CTTCAATGCAGCTGATGTGGT	0.597000														30			8		3.09899e-07	3.12764e-07	1	1	0
SETD1A	9739	broad.mit.edu	37	16	30976205	30976205	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:30976205C>T	uc002ead.1	+	6	1828	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCCATACTTCCTACCCACCA	0.557000														251			46		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98606041	98606041	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:98606041G>A	uc003upp.3	+	68	10962	c.10753G>A	c.(10753-10755)Gag>Aag	p.E3585K	TRRAP_uc011kis.2_Missense_Mutation_p.E3556K|TRRAP_uc003upr.3_Missense_Mutation_p.E3291K	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3585	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)			GCGCCTCGTGGAGGACAACCC	0.612000														166			13		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811262	45811262	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45811262G>A	uc010gpt.1	+	10	1648	c.1548G>A	c.(1546-1548)tgG>tgA	p.W516*	TRPM2_uc002zet.1_Nonsense_Mutation_p.W516*|TRPM2_uc002zeu.1_Nonsense_Mutation_p.W516*|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Nonsense_Mutation_p.W516*|TRPM2_uc002zex.1_Nonsense_Mutation_p.W302*|TRPM2_uc002zey.1_Nonsense_Mutation_p.W29*	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	516						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						TTGTCACCTGGGACACCTTGC	0.587000														102			16		0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102592434	102592434	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102592434G>A	uc001phe.2	-	2	506	c.407C>T	c.(406-408)gCc>gTc	p.A136V	MMP8_uc010rut.1_Missense_Mutation_p.A71V|MMP8_uc010ruu.1_Missense_Mutation_p.A113V	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	136					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GAGTTCAAAGGCATCCTTGAT	0.418000														28			7		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	A	A	rs142762485		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189612073G>A	uc003fry.2	+	13	1914	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.E515K|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.E430K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	609					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	p.E609K(2)		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)		GCAGCTCCACGAATTCTCCTC	0.567000										HNSCC(45;0.13)				85			12		0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995349	10995349	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:10995349G>A	uc003mzp.4	-	4	557	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	132					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCAAAACGAAGAAAATTGTGT	0.378000														125			5		0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46474123	46474123	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:46474123C>T	uc002ini.1	-	1	183	c.71G>A	c.(70-72)gGt>gAt	p.G24D	SKAP1_uc002inj.1_Missense_Mutation_p.G24D|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.G24D	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	24					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATTCCGCAAACCTTCTGCCAG	0.408000														114			12		0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509700	125509700	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:125509700C>T	uc001uha.1	+	2	623	c.480C>T	c.(478-480)atC>atT	p.I160I	DL490908_uc021rgk.1_5'Flank	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	Homo sapiens BRI3 binding protein (BRI3BP), mRNA.	160						integral to membrane|mitochondrial outer membrane		p.W159S(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCTTCTGGATCGTGCGGGTCG	0.627000														73			12		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151160871	151160871	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151160871A>G	uc011bod.2	-	4	5864	c.5864T>C	c.(5863-5865)tTt>tCt	p.F1955S	IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1955	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGTCCCCAAAATTCACTTC	0.507000														112			4		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568221	223568221	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:223568221G>A	uc001hoa.2	+	0	1507	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	468										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCCTGAGGAAGGAGCGGCAAC	0.617000														30			6		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31890254	31890254	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31890254C>T	uc003tcm.2	-	8	1312	c.851_splice	c.e8+1	p.R284_splice	PDE1C_uc003tcn.1_Splice_Site_p.R284_splice|PDE1C_uc003tco.2_Splice_Site_p.R344_splice|PDE1C_uc003tcr.3_Splice_Site_p.R284_splice|PDE1C_uc003tcs.3_Splice_Site_p.R284_splice	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	284	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AACACCCTCACCGAGTCTGAA	0.453000														61			7		0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985223	985223	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:985223T>C	uc003gcb.3	-	2	647	c.269A>G	c.(268-270)tAc>tGc	p.Y90C	SLC26A1_uc003gbx.3_Missense_Mutation_p.Y90C|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Missense_Mutation_p.Y90C	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	90						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CAGCAATGAGTAGGCGATGGC	0.627000														82			23		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817883	43817883	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43817883G>A	uc001zrt.3	+	3	4679	c.4212G>A	c.(4210-4212)caG>caA	p.Q1404Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1404						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGAAACAGCAGGATAAGGCTT	0.458000														38			6		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288585	57288585	+	Silent	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:57288585C>G	uc002ixi.3	+	0	1215	c.1173C>G	c.(1171-1173)tcC>tcG	p.S391S		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	391					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AACAACTTTCCTTTCACATTG	0.512000														82			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595880	179595880	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179595880C>T	uc021vsy.1	-	56	14005	c.13780G>A	c.(13780-13782)Gac>Aac	p.D4594N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1255N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5521	Ig-like 26.						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)			GTGGCTGGGTCTCCTTGGGTG	0.438000														156			22		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289280	132289280	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:132289280A>G	uc002tta.3	+	3	640	c.588A>G	c.(586-588)tcA>tcG	p.S196S	CCDC74A_uc002ttb.3_Silent_p.S130S|CCDC74A_uc021vpq.1_Silent_p.S196S|CCDC74A_uc021vpr.1_Silent_p.S238S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	196										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCAAGATTCAAAAGCTGACG	0.582000														21			17		0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	614007	614007	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:614007G>A	uc002lpe.3	+	6	2034	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	661					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGACCGCCTGGACCGCATCGG	0.701000														33			7		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96581894	96581895	+	RNA	DNP	CA	AG	AG			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96581894_96581895CA>AG	uc002sva.1	-	17		c.876_877TG>CT			ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCATTACCTTCAAGGCTGGTTT	0.342000														21			5		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451694	19451694	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19451694G>A	uc002dgc.4	+	2	1083	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	TMC5_uc010vaq.2_Missense_Mutation_p.E112K|TMC5_uc002dgb.4_Missense_Mutation_p.E112K|TMC5_uc010var.2_Missense_Mutation_p.E112K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	112						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						AGATTATAGTGAATTTCAGAG	0.488000														242			44		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190569915	190569915	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:190569915G>A	uc002uqw.2	+	7	1963	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K	ANKAR_uc002uqu.3_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	625						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCTGTAGGAAGGATCCTAGTT	0.398000														90			12		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18237529	18237529	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18237529A>C	uc001rdq.3	-	4	451	c.257T>G	c.(256-258)aTc>aGc	p.I86S		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	86	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTATCACTGATGTCATACAC	0.393000														80			13		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877323	38877323	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38877323G>A	uc021yzh.1	+	64	9652	c.9543G>A	c.(9541-9543)ttG>ttA	p.L3181L	DNAH8_uc003ooe.2_Silent_p.L2964L|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCGTTCTTTGAAATTTCCTG	0.468000														74			7		0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47424652	47424652	+	Splice_Site	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:47424652T>C	uc011mlp.2	+	6	653	c.459_splice	c.e6-1	p.Q153_splice	ARAF_uc011mln.2_Splice_Site|ARAF_uc011mlo.2_Splice_Site_p.R19_splice|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	153					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GCCCTCAAGGTTCTACCACAG	0.617000														22			5		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539937	55539937	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55539937G>A	uc003xsd.1	+	3	3643	c.3495G>A	c.(3493-3495)gaG>gaA	p.E1165E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1165					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)			CATTGTTGGAGATTCTAAAGC	0.428000														77			5		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762435	43762435	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43762435G>A	uc002owd.4	-	4	1261	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	PSG9_uc002owe.4_Missense_Mutation_p.H295Y|PSG9_uc010xwm.2_Missense_Mutation_p.H295Y|PSG9_uc002owf.4_Missense_Mutation_p.H202Y|PSG9_uc002owg.2_Missense_Mutation_p.H295Y	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	388	Ig-like C2-type 3.				female pregnancy	extracellular region				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)				AGCCCGCTATGATTTCTAGTA	0.443000														236			50		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74419267	74419267	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:74419267T>A	uc010vmt.1	+	1	95	c.94T>A	c.(94-96)Tct>Act	p.S32T				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	93										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TATCTTCTGGTCTCGAAATGG	0.478000														107			5		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11317192	11317192	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:11317192G>A	uc001asd.3	-	3	423	c.302C>T	c.(301-303)gCc>gTc	p.A101V		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	101					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AATTCGGGTGGCATTCCCACC	0.532000														25			9		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559889	44559889	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44559889C>T	uc002lcr.1	-	0	2100	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	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.	583	Activation domain (By similarity).				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						CTCCGTAATTCGTCTGTCTCT	0.517000														51			9		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416469	48416469	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48416469G>A	uc001jfa.1	-	0	385	c.225C>T	c.(223-225)gtC>gtT	p.V75V		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	75					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.V75V(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCTGCGAAGGGACCCCACTCA	0.562000														60			5		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216258	20216258	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20216258C>T	uc010tkt.2	+	0	672	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L223L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCCTGATCACCCTGAGAA	0.498000														105			10		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43214426	43214426	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43214426G>A	uc003ouq.1	+	1	307	c.28G>A	c.(28-30)Gac>Aac	p.D10N		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	10						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGCCCTTAAGGACGAAACCAA	0.672000														55			5		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907600	164907600	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:164907600C>T	uc003fej.4	-	1	1463	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	SLITRK3_uc003fek.3_Missense_Mutation_p.R340Q|SLITRK3_uc021xgy.1_Missense_Mutation_p.R340Q	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	340						integral to membrane		p.R340L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTGGTGTTCGAGGCTGTTT	0.483000										HNSCC(40;0.11)				252			38		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4422787	4422787	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4422787C>T	uc002mal.3	+	4	1342	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	414	Arg/Glu/Lys-rich.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGGAAGCCCTGGAGTGAG	0.612000								Chromatin Structure						40			4		0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122928507	122928507	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:122928507G>A	uc001pyo.3	-	8	2011	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	HSPA8_uc009zbc.3_Missense_Mutation_p.P390S|HSPA8_uc001pyp.3_Missense_Mutation_p.P473S|HSPA8_uc010rzu.2_Missense_Mutation_p.P549S	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	626					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCACCACCAGGAAATCCCCCA	0.522000														85			12		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632968	143632968	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143632968C>T	uc011ktv.2	+	0	643	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTGCCTGGTTCTGTTGTCCTA	0.522000														54			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236260	21236260	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21236260G>A	uc002red.3	-	24	4116	c.3988C>T	c.(3988-3990)Ctg>Ttg	p.L1330L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1330					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)	CGAGATGGCAGATGGAATCCC	0.473000														91			7		0	0	1	0	0
C1orf49	84066	broad.mit.edu	37	1	178489983	178489983	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:178489983C>T	uc001glt.2	+	6	629	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	C1orf49_uc021pfd.1_Missense_Mutation_p.P173S|C1orf49_uc001glu.1_Missense_Mutation_p.P173S|C1orf49_uc021pfe.1_Missense_Mutation_p.P173S|C1orf49_uc001glw.2_Missense_Mutation_p.P181S|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	173						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						CTCACTGGATCCCCTTCATCA	0.582000														32			4		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133219	89133219	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:89133219G>A	uc001pct.3	-	10	1279	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	NOX4_uc009yvr.3_Missense_Mutation_p.S322F|NOX4_uc001pcu.3_Missense_Mutation_p.S273F|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.S347F|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.S181F|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.S323F|NOX4_uc009yvq.3_Missense_Mutation_p.S323F	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	347	FAD-binding FR-type.|Mediates interaction with TLR4.				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)				TTCTAATGCAGATACACTGGG	0.299000														42			8		0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36336810	36336810	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36336810G>A	uc003omb.3	-	5	962	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	ETV7_uc003olz.2_Missense_Mutation_p.L235F|ETV7_uc003oma.2_Missense_Mutation_p.L180F|ETV7_uc003omc.3_Missense_Mutation_p.L180F|ETV7_uc010jwj.3_Missense_Mutation_p.L176F|ETV7_uc010jwi.3_Missense_Mutation_p.L158F|ETV7_uc010jwh.3_Missense_Mutation_p.L154F|ETV7_uc011dtl.2_Missense_Mutation_p.L84F	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	235					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L234L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CGGGTATCAAGGAGCAGCTGA	0.537000														121			10		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372946	81372946	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:81372946G>A	uc009xry.3	+	5	420	c.338_splice	c.e5-1	p.G113_splice	SFTPA1_uc001kap.3_Splice_Site_p.G98_splice|SFTPA1_uc001kar.3_Splice_Site_p.G98_splice|SFTPA1_uc001kaq.3_Splice_Site_p.G98_splice|SFTPA1_uc001kao.3_Splice_Site_p.G64_splice|SFTPA1_uc021puu.1_Splice_Site_p.G49_splice|SFTPA1_uc010qlt.2_Splice_Site_p.G39_splice|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	98					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTCCACAGGGCTTCCAGCTC	0.582000														109			8		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442337	138442337	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:138442337C>T	uc003ihe.4	-	3	3641	c.3254G>A	c.(3253-3255)tGg>tAg	p.W1085*	PCDH18_uc003ihf.4_Nonsense_Mutation_p.W1077*|PCDH18_uc011cgz.2_Nonsense_Mutation_p.W296*|PCDH18_uc003ihg.4_Nonsense_Mutation_p.W864*|PCDH18_uc011cha.2_Nonsense_Mutation_p.W265*	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1085	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGCTGGCAGCCATTTTGAAGA	0.512000														28			4		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120707541	120707542	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:120707541_120707542CT>TC	uc001pxn.2	+	7	1019_1020	c.732_733CT>TC	c.(730-735)atcttc>atTCtc	p.F245L	GRIK4_uc009zav.1_Missense_Mutation_p.F245L|GRIK4_uc009zaw.1_Missense_Mutation_p.F245L|GRIK4_uc009zax.1_Missense_Mutation_p.F245L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	245					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACACATACATCTTCACTAATCT	0.446000														95			5		0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469154	21469154	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21469154C>T	uc003sva.3	+	2	552	c.371C>T	c.(370-372)tCg>tTg	p.S124L	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	124	Poly-Ser.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GCCTCTAGTTCGTCTAGTTCT	0.438000														66			11		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150135	25150135	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:25150135C>T	uc003abd.1	-	7	1240	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	PIWIL3_uc011ajx.1_Missense_Mutation_p.E166K|PIWIL3_uc010gut.1_Missense_Mutation_p.E275K|PIWIL3_uc011ajy.1_Missense_Mutation_p.E166K	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	275					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATGCTGTTTTCGTATTGAAGA	0.413000														62			7		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909511	123909511	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123909511G>A	uc001pzq.1	-	0	198	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		ACATGTCAATGAAGGACAGGT	0.562000														84			9		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109459111	109459111	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:109459111C>T	uc010agk.2	+	6	1448	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	MYO16_uc001vqt.1_Nonsense_Mutation_p.Q254*|MYO16_uc001vqu.1_Nonsense_Mutation_p.Q54*	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	254					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGTAGATGATCAGTACTGGAC	0.418000														38			4		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26098178	26098178	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:26098178G>A	uc001bkm.2	+	7	1502	c.1172G>A	c.(1171-1173)aGt>aAt	p.S391N	MAN1C1_uc009vry.1_Missense_Mutation_p.S211N	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	391					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CTCGGGGACAGTTTTTATGAA	0.498000														109			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429121	135429121	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135429121C>T	uc004ezu.1	+	5	3547	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C	GPR112_uc010nsb.1_Missense_Mutation_p.R881C|GPR112_uc010nsc.1_Missense_Mutation_p.R853C	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1086					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1085S(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)					AGACTTGATTCGTACCACTTC	0.463000														152			27		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64589053	64589053	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:64589053C>T	uc001xgl.3	+	69	13560	c.13330C>T	c.(13330-13332)Ccc>Tcc	p.P4444S	SYNE2_uc001xgm.3_Missense_Mutation_p.P4444S|SYNE2_uc021ruh.1_Intron|SYNE2_uc010apy.3_Missense_Mutation_p.P829S|SYNE2_uc010apz.1_Missense_Mutation_p.P336S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4444					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)		GATCTTGTCACCCCAGGGCCA	0.443000														42			10		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167075	6167075	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:6167075C>T	uc001qnn.1	-	13	1919	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R	VWF_uc010set.1_Missense_Mutation_p.G557R	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	557	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGCAGTCCCCGTGCAGCTTC	0.647000														85			7		0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794829	242794829	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242794829G>A	uc002wcq.4	-	1	448	c.380C>T	c.(379-381)tCc>tTc	p.S127F	PDCD1_uc010fzs.3_Missense_Mutation_p.S58F|PDCD1_uc010fzt.3_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	127	Ig-like V-type.				T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGGGGCCAGGGAGATGGCCCC	0.682000														43			6		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74013578	74013578	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74013578C>T	uc010rrj.2	-	2	446	c.403G>A	c.(403-405)Gga>Aga	p.G135R	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.G135R			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	135						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTTGCTGCTCCCTCAAGGTCC	0.522000														92			11		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671594	39671594	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:39671594G>A	uc021wjc.1	+	0	411	c.411G>A	c.(409-411)gaG>gaA	p.E137E	KCNJ15_uc002ywv.3_Silent_p.E137E|KCNJ15_uc002yww.3_Silent_p.E137E|KCNJ15_uc002ywx.3_Silent_p.E137E	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	137					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCATCACAGAGGAATGTCCTC	0.507000														75			12		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146684032	146684032	+	Silent	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:146684032T>G	uc001epi.2	-	4	948	c.559A>C	c.(559-561)Aga>Cga	p.R187R	FMO5_uc001eph.4_Silent_p.R187R|FMO5_uc001epj.2_Silent_p.R187R|FMO5_uc001epk.4_Silent_p.R187R	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	187						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATAATGACTCTCTTTCCAGTG	0.413000														88			17		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776210	5776210	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5776210C>T	uc001mbu.3	+	0	288	c.240C>T	c.(238-240)atC>atT	p.I80I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTAGTACAATCCCTAAAGCCC	0.458000														58			9		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128328	30128328	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30128328C>T	uc003npo.3	-	0	384	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TRIM10_uc003npn.2_Missense_Mutation_p.G103E|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	103						cytoplasm	zinc ion binding			ovary(1)	1						GATCTTCTCTCCGTGCTCTTG	0.592000														110			7		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31940123G>A	uc003nyv.3	+	1	393	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(6)|p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000														119			6		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981719	61981719	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61981719G>A	uc002yes.2	-	4	1222	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	CHRNA4_uc002yet.1_Silent_p.F172F|CHRNA4_uc010gke.1_Silent_p.F277F|CHRNA4_uc002yev.1_Silent_p.F172F|CHRNA4_uc010gkf.1_Silent_p.F172F	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	348					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGATGTCCAGGAAGACCCTGC	0.622000														51			4		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94152932	94152932	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94152932G>A	uc001ybv.1	+	41	6569	c.6486G>A	c.(6484-6486)gcG>gcA	p.A2162A	UNC79_uc001ybs.1_Silent_p.A2140A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2317						integral to membrane		p.A2339A(1)|p.A2140A(1)|p.K2161N(1)		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						GGACTGCAGCGATGGAGTGTG	0.507000														39			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577272	179577272	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179577272C>T	uc021vsy.1	-	91	23870	c.23645G>A	c.(23644-23646)gGa>gAa	p.G7882E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4543E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8809	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGGGTTTTCCTTTCTCTAT	0.388000														19			4		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60641149	60641149	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:60641149C>T	uc001nqd.3	+	8	1493	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	ZP1_uc001nqe.3_Silent_p.A198A	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	491	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AAATGGTAGCCTTGGACGGGG	0.582000														107			5		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43413826	43413826	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43413826G>A	uc021wjo.1	-	0	379	c.379C>T	c.(379-381)Cca>Tca	p.P127S	ZNF295_uc002yzz.4_Missense_Mutation_p.P127S|ZNF295_uc002zab.4_Missense_Mutation_p.P127S|ZNF295_uc002yzy.4_Missense_Mutation_p.P127S|ZNF295_uc002zaa.4_Missense_Mutation_p.P127S|ZNF295_uc010gov.1_Missense_Mutation_p.P127S|ZNF295_uc002zac.2_Missense_Mutation_p.P127S	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	127					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						GGACACGTTGGAAAGGGGGCT	0.408000														40			7		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508551	106508551	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:106508551C>T	uc003vdv.4	+	1	630	c.545C>T	c.(544-546)aCc>aTc	p.T182I	PIK3CG_uc003vdu.3_Missense_Mutation_p.T182I|PIK3CG_uc003vdw.3_Missense_Mutation_p.T182I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	182					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V181L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCTTGGTGACCCCGCGCATG	0.647000														52			10		0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18960947	18960947	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18960947C>T	uc002nkg.3	+	3	800	c.525C>T	c.(523-525)ccC>ccT	p.P175P	UPF1_uc002nkf.3_Silent_p.P175P	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	175	Sufficient for interaction with RENT2.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGGACGGGCCCCTGGGGGAGA	0.542000														114			13		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56716350	56716350	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:56716350G>A	uc021zay.1	-	1	182	c.56C>T	c.(55-57)tCc>tTc	p.S19F	DST_uc011dxl.1_Missense_Mutation_p.S8F|DST_uc021zba.1_Missense_Mutation_p.S157F	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	0					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCCTCATCGGAAAAATCCGC	0.468000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			4		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860230	228860230	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228860230G>A	uc002vpq.2	-	7	4676	c.4629C>T	c.(4627-4629)tcC>tcT	p.S1543S	SPHKAP_uc002vpp.2_Silent_p.S1543S|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1543						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTACCTCATGGATCGCTCAC	0.483000														189			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085846	9085846	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9085846A>T	uc002mkp.3	-	0	6173	c.5969T>A	c.(5968-5970)gTt>gAt	p.V1990D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1990	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						TTCTGAAGAAACTGCATGTAG	0.463000														58			12		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525925	176525925	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176525925C>T	uc001gkz.3	+	1	1631	c.467C>T	c.(466-468)tCt>tTt	p.S156F	PAPPA2_uc001gky.1_Missense_Mutation_p.S156F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	156					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						TCCAAGGAGTCTCTAGGTGAG	0.547000														95			12		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11726320	11726320	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11726320G>A	uc002gne.3	+	47	9283	c.9215G>A	c.(9214-9216)gGg>gAg	p.G3072E	DNAH9_uc010coo.3_Missense_Mutation_p.G2366E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3072	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G3072W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGGAGAACGGGCTGCTGAAG	0.552000														21			6		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61597403	61597403	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61597403G>A	uc010xev.2	+	5	705	c.615G>A	c.(613-615)aaG>aaA	p.K205K	SERPINB2_uc010xew.2_Silent_p.K205K	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	220					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCACAGAAAAGCCTTTTAGAA	0.358000														81			15		0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12874530	12874530	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:12874530G>A	uc002muy.2	-	20	2061	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	HOOK2_uc002muz.2_Silent_p.S628S	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	630	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding	p.S630A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTGTCCTCAGGGAATGGAGTT	0.602000														58			9		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988454	123988454	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123988454G>A	uc001pzu.3	+	3	327	c.118G>A	c.(118-120)Gag>Aag	p.E40K	VWA5A_uc001pzr.3_Missense_Mutation_p.E40K|VWA5A_uc001pzs.3_Missense_Mutation_p.E40K|VWA5A_uc010sae.2_Missense_Mutation_p.E56K|VWA5A_uc001pzt.3_Missense_Mutation_p.E40K	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	40	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTTGAACTACGAGAATGAGGA	0.468000														72			4		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687800	109687800	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:109687800C>T	uc004bcz.3	+	2	1896	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P384L|ZNF462_uc004bda.3_Missense_Mutation_p.P384L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	536					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P536L(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGTTGGATCCCTTGCAGCAG	0.557000														35			11		0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20891473	20891473	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:20891473C>T	uc002zsp.3	+	1	218	c.138C>T	c.(136-138)ttC>ttT	p.F46F	MED15_uc002zsn.1_5'UTR|MED15_uc002zso.2_Silent_p.F46F|MED15_uc002zsq.3_Silent_p.F46F|MED15_uc010gso.3_Silent_p.F46F|MED15_uc002zsr.3_Silent_p.F20F|MED15_uc011ahs.2_Silent_p.F20F|MED15_uc011aht.1_Silent_p.F20F	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	46	Interaction with SREBF1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GCCATGTTTTCCTGAAGGCCA	0.527000														37			7		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032328	30032328	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:30032328C>T	uc021qfi.1	-	0	1898	c.1898G>A	c.(1897-1899)gGg>gAg	p.G633E	KCNA4_uc001msk.3_Missense_Mutation_p.G633E	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	633						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTGTCATCCCCCTTTCCCTG	0.473000														88			6		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798973	44798973	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:44798973C>T	uc003tlr.3	+	6	1030	c.907C>T	c.(907-909)Cct>Tct	p.P303S	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P271S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P303S|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	303	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCCCCTCCCCTTCCTACCC	0.657000														97			6		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102340891	102340892	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:102340891_102340892AG>GA	uc003knt.3	+	16	2137_2138	c.1764_1765AG>GA	c.(1762-1767)aaagat>aaGAat	p.D589N	PAM_uc003knw.3_Missense_Mutation_p.D589N|PAM_uc003kns.3_Missense_Mutation_p.D482N|PAM_uc003knu.3_Missense_Mutation_p.D589N|PAM_uc011cuz.2_Missense_Mutation_p.D492N|PAM_uc003knv.3_Missense_Mutation_p.D589N|PAM_uc003knz.3_5'Flank	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	589	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)	GTATAGATAAAGATGGGAATTA	0.351000														30			6		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104084292	104084292	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:104084292C>T	uc001tjw.3	+	29	3459	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1091	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGGCAACTTCCTTCACTTGG	0.403000														33			5		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100231927	100231927	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:100231927C>T	uc003hus.4	-	7	1182	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	ADH1B_uc003hut.4_Silent_p.G326G|ADH1B_uc011ceh.2_Silent_p.G211G|ADH1B_uc011cei.1_Silent_p.G326G	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	366					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTACCTTTTCCCAGAGTGAA	0.338000														50			6		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228297	6228297	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:6228297G>A	uc001amb.2	-	1	231	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	40					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCTCCACAGGGAAAAAGTCAT	0.502000														178			21		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080476	29080476	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29080476C>T	uc011dll.2	+	0	809	c.809C>T	c.(808-810)tCt>tTt	p.S270F		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCAGGAAATTCTCAAGATCAA	0.433000														76			20		0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58772997	58772997	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:58772997C>T	uc010euo.3	+	6	1499	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Missense_Mutation_p.S314F|ZNF544_uc010yhy.2_Missense_Mutation_p.S314F|ZNF544_uc002qrt.4_Missense_Mutation_p.S200F|ZNF544_uc002qru.4_Missense_Mutation_p.S200F|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCATCTTTTTCTGACTGTAAC	0.473000														56			6		0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271997	1271997	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:1271997C>T	uc002ckw.2	-	5	759	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	253	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GTGTAGACTCCCGGCCTGTTG	0.687000														62			5		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40433627	40433627	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:40433627C>T	uc003ckd.4	+	2	246	c.154C>T	c.(154-156)Cct>Tct	p.P52S	ENTPD3_uc010hhy.3_Missense_Mutation_p.P52S|ENTPD3-AS1_uc003cke.4_Non-coding_Transcript	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	52						integral to membrane	ATP binding|hydrolase activity	p.P52S(4)|p.L51L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AGAGGTCCTCCCTCCAGGACT	0.453000														59			13		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52428491	52428491	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52428491G>A	uc011bef.2	+	66	10898	c.10637G>A	c.(10636-10638)cGa>cAa	p.R3546Q	DNAH1_uc003ddv.3_Missense_Mutation_p.R404Q	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3611					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)		AGTGAGTGGCGATACCTCCTG	0.632000														16			5		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029683	71029683	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71029683G>A	uc001swc.4	-	1	264	c.219C>T	c.(217-219)aaC>aaT	p.N73N	PTPRB_uc001swa.4_Silent_p.N73N|PTPRB_uc001swd.4_Silent_p.N72N|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Silent_p.N73N	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				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)			CGCGGGAAGAGTTGGAGATGG	0.557000														25			3		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995137	140995137	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140995137G>A	uc004fbt.3	+	3	2271	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.Q308Q	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	649							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)					AGAGTTCTCAGAGTCCTCCTG	0.577000										HNSCC(15;0.026)				231			42		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463519	26463519	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:26463519G>A	uc001mqt.4	+	1	246	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	ANO3_uc010rdr.2_Missense_Mutation_p.R18Q	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	34						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						AAACCGTCTCGGAGATCCCTG	0.438000														127			30		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46914641	46914641	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46914641C>T	uc001ndn.4	-	12	1823	c.1580G>A	c.(1579-1581)tGg>tAg	p.W527*		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	527					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGAGTCGGTCCAGTAGAGTTT	0.587000														28			5		0	0	1	0	0
PNPLA2	57104	broad.mit.edu	37	11	821704	821704	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:821704C>T	uc001lrt.3	+	2	467	c.264C>T	c.(262-264)ttC>ttT	p.F88F	PNPLA2_uc009ycl.3_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	Homo sapiens patatin-like phospholipase domain containing 2 (PNPLA2), mRNA.	88	Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCCCTCCTTCAACCTGGTAA	0.607000														25			12		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356917	67356917	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:67356917C>T	uc003xwb.4	+	4	321	c.287C>T	c.(286-288)tCc>tTc	p.S96F	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.S48F|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.S26F|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	96					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTATGGATTCCCTAGTGAAG	0.403000														181			17		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913196	40913196	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40913196C>T	uc010bbs.1	+	10	973	c.812C>T	c.(811-813)tCc>tTc	p.S271F	CASC5_uc010ucq.1_Missense_Mutation_p.S95F|CASC5_uc001zme.3_Missense_Mutation_p.S245F|CASC5_uc010bbt.1_Missense_Mutation_p.S245F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	271	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CCTATTTATTCCAAGGAACCG	0.313000														30			5		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480062	73480062	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:73480062A>T	uc003xzb.3	+	1	681	c.93A>T	c.(91-93)aaA>aaT	p.K31N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	31					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S30G(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)			TCCGGAGCAAAACATGCTCCA	0.552000														83			10		0	0	1	0	0
C5orf30	90355	broad.mit.edu	37	5	102611671	102611671	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:102611671C>T	uc003kog.1	+	2	320	c.51C>T	c.(49-51)ccC>ccT	p.P17P	C5orf30_uc003koh.1_Silent_p.P17P|C5orf30_uc021yca.1_Silent_p.P17P	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	Homo sapiens chromosome 5 open reading frame 30 (C5orf30), mRNA.	17										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		CCACCTTGCCCTTCCCTGGGG	0.547000														38			5		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810979	65810979	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:65810979G>A	uc001ogv.3	-	1	455	c.295C>T	c.(295-297)Ccg>Tcg	p.P99S	GAL3ST3_uc001ogw.3_Missense_Mutation_p.P99S	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	99					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TCGCAGCTCGGGTGCGGCAGG	0.667000														38			4		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844242	106844242	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:106844242G>A	uc022cce.1	+	0	608	c.240G>A	c.(238-240)atG>atA	p.M80I				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1024	PDZ.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGGCCAGCATGGGGAGGCCAG	0.547000														5			4		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149700080	149700081	+	Missense_Mutation	DNP	TT	CC	CC			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:149700080_149700081TT>CC	uc003qmj.3	+	2	1207_1208	c.1029_1030TT>CC	c.(1027-1032)tcttct>tcCCct	p.S344P	TAB2_uc011eec.2_Missense_Mutation_p.S312P|TAB2_uc010kia.1_Missense_Mutation_p.S344P|TAB2_uc010kib.2_Missense_Mutation_p.S344P|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	344					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AACTGCGTTCTTCTGGACCTCG	0.426000														52			17		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247180	142247180	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142247180G>A	uc003vyd.4	-	1	301	c.276C>T	c.(274-276)tcC>tcT	p.S92S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAGTAGAGACGGATCCCTCAG	0.572000														73			17		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231930	21231930	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21231930G>A	uc002red.3	-	25	7938	c.7810C>T	c.(7810-7812)Ctt>Ttt	p.L2604F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2604					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)	AGAGCCTGAAGACTGACTTCA	0.433000														73			15		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255101	9255101	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:9255101C>T	uc002knv.3	+	8	2100	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	ANKRD12_uc002knw.3_Silent_p.F589F|ANKRD12_uc002knx.3_Silent_p.F589F|ANKRD12_uc010dkx.1_Silent_p.F319F	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	612						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAAAGATTTCCACTTAGAAT	0.308000														34			11		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138312939	138312939	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138312939G>A	uc011kqh.2	-	9	1033	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	SVOPL_uc003vue.3_Missense_Mutation_p.R193W	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	345						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATCATGGTCCGATAGTCAGAG	0.547000														64			5		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253758	44253758	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:44253758G>A	uc003oxi.2	-	2	945	c.789C>T	c.(787-789)ttC>ttT	p.F263F	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	263										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGGTAGGTGAAGAGGAAGA	0.592000														92			6		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136386	55136386	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55136386C>T	uc010rif.2	+	0	1027	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGCTGTATCACTCATGAGA	0.358000														72			4		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113076847	113076847	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:113076847C>A	uc021qqp.1	+	4	939	c.567C>A	c.(565-567)ggC>ggA	p.G189G	NCAM1_uc001pno.3_Silent_p.G73G|NCAM1_uc001pnp.3_Silent_p.G189G|NCAM1_uc021qqo.1_Silent_p.G189G|NCAM1_uc001pnq.3_Silent_p.G189G|NCAM1_uc001pnr.3_Silent_p.G189G	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	191	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCTGTGAGGGCAGAATCCTGG	0.498000														127			7		0.000274275	0.000275626	1	1	0
TATDN2	9797	broad.mit.edu	37	3	10312174	10312174	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:10312174C>T	uc011atr.2	+	3	1889	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	TATDN2_uc003bvg.2_Silent_p.A436A|TATDN2_uc003bvf.3_Silent_p.A436A|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	436						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ACATGGAGGCCTCAGAGGAAG	0.522000														85			16		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150815396	150815396	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150815396C>T	uc003wjg.1	+	5	809	c.806C>T	c.(805-807)aCc>aTc	p.T269I	AGAP3_uc003wje.1_Missense_Mutation_p.T41I|AGAP3_uc003wjf.1_Missense_Mutation_p.T269I|AGAP3_uc010lpy.1_Missense_Mutation_p.T269I|AGAP3_uc003wjh.1_Missense_Mutation_p.T449I	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	233	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGTGCGCGACCTACGGGCTC	0.632000														136			8		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890349	113890349	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113890349C>T	uc002tjb.3	+	3	499	c.435C>T	c.(433-435)ttC>ttT	p.F145F	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Silent_p.F148F|IL1RN_uc002tiy.3_Silent_p.F111F|IL1RN_uc002tja.3_Silent_p.F127F	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	145					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CCGGTTGGTTCCTCTGCACAG	0.577000									Lichen Sclerosis et Atrophicus, Familial Clustering of					98			22		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15634241	15634241	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:15634241G>A	uc001ioc.1	-	21	2274	c.2274C>T	c.(2272-2274)ttC>ttT	p.F758F	ITGA8_uc010qcb.1_Silent_p.F743F	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	758					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						TTTGGAGATCGAAGTTAATGC	0.393000														24			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179415913	179415913	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179415913C>T	uc021vsy.1	-	284	83866	c.83641G>A	c.(83641-83643)Gat>Aat	p.D27881N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D21576N|TTN_uc021vta.1_Missense_Mutation_p.D21509N|TTN_uc021vtb.1_Missense_Mutation_p.D21384N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28808	Ig-like 130.						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)			CTGCCTCCATCACGCAATGGT	0.453000														31			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477449	110477449	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110477449G>A	uc003yne.3	+	48	8492	c.8388G>A	c.(8386-8388)atG>atA	p.M2796I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2796					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATGGTAATGATTGATGTTG	0.373000										HNSCC(38;0.096)				40			9		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944104	47944104	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:47944104G>A	uc003tny.2	-	11	1836	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	601	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACCAGAGCTGAGGAGGGGGA	0.557000														37			8		0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36636769	36636769	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:36636769C>T	uc001bzz.3	+	1	460	c.244C>T	c.(244-246)Ccg>Tcg	p.P82S	MAP7D1_uc001caa.3_Missense_Mutation_p.P82S|MAP7D1_uc001cab.3_Missense_Mutation_p.P82S|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	82	Pro-rich.					cytoplasm|spindle		p.P82P(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGCCCCCCCGCAGGAAGA	0.657000														99			36		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444027	20444027	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20444027C>T	uc010tkx.2	+	0	350	c.350C>T	c.(349-351)tCt>tTt	p.S117F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	117			S -> A (in dbSNP:rs3861513).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGACTATTTCTTTTGATGCC	0.428000														119			22		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49224068	49224068	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49224068G>A	uc002pki.3	-	11	3076	c.2879C>T	c.(2878-2880)gCc>gTc	p.A960V	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.3_Missense_Mutation_p.A221V	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	960					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGAGACGTGGCCACGGGAGG	0.607000														174			17		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50342258	50342258	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:50342258C>T	uc002egd.1	+	14	2139	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	ADCY7_uc002egc.2_Missense_Mutation_p.S624F	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	624					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTGGGTGTGTCCTTCGGGCTG	0.662000														102			18		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131219668	131219668	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:131219668C>T	uc004ewn.3	-	6	764	c.586G>A	c.(586-588)Gat>Aat	p.D196N	FRMD7_uc022cdy.1_Missense_Mutation_p.D76N|FRMD7_uc011muy.2_Missense_Mutation_p.D181N	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	196	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTTCACCATCACTGGCGGGG	0.512000														78			28		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54435826	54435826	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:54435826G>A	uc021smr.1	+	2	3016	c.3016G>A	c.(3016-3018)Gta>Ata	p.V1006I	UNC13C_uc021sms.1_Missense_Mutation_p.V1006I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1006					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCTCGAATAGTAAGTGGCAA	0.393000														31			3		0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576692	90576692	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:90576692C>T	uc003pnr.3	+	7	3879	c.3683C>T	c.(3682-3684)aCt>aTt	p.T1228I	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.T1228I|CASP8AP2_uc011dzz.2_Missense_Mutation_p.T1228I	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1228					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTATTAACACTGTAAAGCAT	0.328000														15			4		0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478691	69478691	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69478691G>A	uc004dxz.1	-	0	964	c.784C>T	c.(784-786)Cac>Tac	p.H262Y		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	262					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CGGGTGATGTGGAAAGGCACG	0.567000														17			3		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204811	9204811	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9204811G>A	uc010xkj.2	+	0	891	c.891G>A	c.(889-891)ctG>ctA	p.L297L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACAGAGACCTGAAAGGGGCTC	0.517000														42			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770933	13770933	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13770933G>A	uc003jfd.2	-	55	9572	c.9530C>T	c.(9529-9531)tCa>tTa	p.S3177L	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3177					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAGAGGTATGATTTGGGCGT	0.478000									Kartagener syndrome					44			10		0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289807	5289807	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5289807C>T	uc001mal.1	-	2	602	c.336G>A	c.(334-336)gtG>gtA	p.V112V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.V112V	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	112					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGAATAATCACCATCACGT	0.468000														144			21		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027695	79027695	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:79027695C>T	uc003kgc.3	+	1	3179	c.3107C>T	c.(3106-3108)tCc>tTc	p.S1036F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1036						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAGGTTATTCCTGCTTTTCA	0.418000														17			5		0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42293297	42293297	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42293297G>A	uc010czs.3	-	3	591	c.295C>T	c.(295-297)Cct>Tct	p.P99S	UBTF_uc002igc.3_Missense_Mutation_p.P99S|UBTF_uc002igd.3_Missense_Mutation_p.P99S|UBTF_uc010czt.3_Missense_Mutation_p.P99S|UBTF_uc002ige.2_Missense_Mutation_p.P99S	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	99					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTTGTAAGGATTTTTAACA	0.468000														75			4		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52870047	52870047	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:52870047G>A	uc003pbh.2	-	14	2289	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I	ICK_uc003pbi.2_Missense_Mutation_p.T600I	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	600					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TCTAGGCTGGGTGTGGAAGAA	0.572000														69			9		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95606905	95606905	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:95606905T>G	uc003uoc.4	+	6	900	c.623T>G	c.(622-624)gTg>gGg	p.V208G	DYNC1I1_uc003uod.4_Missense_Mutation_p.V191G|DYNC1I1_uc003uob.3_Missense_Mutation_p.V171G|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V188G|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V197G	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	208					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AAACAGGAAGTGAAGGAAGGT	0.328000														34			3		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940270	31940270	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31940270C>T	uc003nyv.3	+	1	540	c.412C>T	c.(412-414)Cct>Tct	p.P138S	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.P95S|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.P138S|STK19_uc011dox.1_Missense_Mutation_p.P95S|STK19_uc003nyw.3_Missense_Mutation_p.P138S|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	138						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GGAGTCGGATCCTCTTCGGGG	0.612000														99			5		0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97328321	97328321	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:97328321C>T	uc002bue.3	+	2	499	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	98										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GAGAAGTGTCCTGTTTCACCC	0.483000														95			20		0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228238581	228238581	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228238581C>T	uc001hrp.2	+	2	645	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	WNT3A_uc001hrq.2_Missense_Mutation_p.R180C	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	180					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCAGATGCCCGCTCAGCCAT	0.647000														32			7		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648153	130648153	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130648153G>A	uc001uii.3	+	0	1150	c.666G>A	c.(664-666)gaG>gaA	p.E222E	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.	222					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)		GGAGCCGCGAGGACAAGCGCT	0.687000														47			6		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891609	18891609	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18891609G>A	uc001rdy.3	+	0	565	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	136					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.G136A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TATCCAAAAGGAAATTGCAAC	0.403000														45			5		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501177	195501177	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:195501177C>T	uc021xjp.1	-	4	13100	c.12944_splice	c.e4-1	p.G4315_splice	MUC4_uc003fuz.3_Splice_Site|MUC4_uc003fva.3_Splice_Site|MUC4_uc003fvb.3_Splice_Site|MUC4_uc003fvc.3_Splice_Site|MUC4_uc003fvd.3_Splice_Site|MUC4_uc003fve.3_Splice_Site|MUC4_uc010hzr.3_Splice_Site|MUC4_uc021xjm.1_Splice_Site|MUC4_uc021xjn.1_Splice_Site_p.G56_splice|MUC4_uc021xjo.1_Splice_Site|MUC4_uc021xjg.1_Splice_Site|MUC4_uc021xjh.1_Splice_Site|MUC4_uc021xji.1_Splice_Site|MUC4_uc021xjj.1_Splice_Site|MUC4_uc021xjk.1_Splice_Site_p.G56_splice|MUC4_uc021xjl.1_Splice_Site|MUC4_uc003fvo.3_Splice_Site_p.G79_splice|MUC4_uc003fvp.3_Splice_Site_p.G28_splice	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1072					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGAAACTCCTGGGCCAGGA	0.632000														43			14		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296489	20296489	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20296489G>A	uc010tkv.2	+	0	882	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	294					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)		ACCAGGAAGTGAAAGCTTCCA	0.378000														80			6		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53009963	53009963	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53009963C>T	uc001sas.3	-	1	684	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	217	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTTGTAGTCCTCCACCACT	0.627000														84			14		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138714	151138714	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151138714G>A	uc004ffi.3	-	1	271	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R73G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGGATGCGAGAGGCTTCT	0.547000														99			29		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10434961	10434961	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10434961G>A	uc010coi.3	-	21	2814	c.2686C>T	c.(2686-2688)Caa>Taa	p.Q896*	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.Q896*|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	896					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCTGAACTTGGAGCTGCAAG	0.438000														56			18		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43508592	43508592	+	Splice_Site	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43508592T>C	uc002zag.1	+	5	790	c.790_splice	c.e5+2	p.D264_splice	UMODL1_uc002zad.1_Splice_Site_p.D192_splice|UMODL1_uc002zae.1_Splice_Site_p.D192_splice|UMODL1_uc002zaf.1_Splice_Site_p.D264_splice|UMODL1_uc010gow.1_Splice_Site_p.D56_splice|UMODL1_uc002zai.1_Intron|UMODL1_uc010gox.1_Splice_Site|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Splice_Site|UMODL1_uc010goz.1_Splice_Site_p.D56_splice	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	264	EGF-like 1; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGTGCAAGGTTGGGCTTCCC	0.582000														18			3		0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494984	1494984	+	Silent	SNP	G	A	A	rs145500943		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:1494984G>A	uc003jcm.3	-	2	441	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	108					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AGCCGCCGGCGAACCACATGG	0.677000														24			3		0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43305956	43305956	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:43305956G>A	uc001cic.1	+	10	971	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ERMAP_uc001cid.1_Non-coding_Transcript|ERMAP_uc001cie.1_Missense_Mutation_p.R234Q|ERMAP_uc001cif.1_Missense_Mutation_p.R144Q	NM_001017922	NP_061008	Q96PL5	ERMAP_HUMAN	Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.	234	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAAGAGCCCGGTTGCATTTT	0.423000														70			9		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44273936	44273936	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44273936G>A	uc002oxl.3	-	4	1261	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	289	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TTAAACTCCAGCTTCCGGGCC	0.587000														110			7		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763283	31763283	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31763283G>A	uc002wyo.1	+	4	552	c.481G>A	c.(481-483)Gat>Aat	p.D161N		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	161						extracellular region	lipid binding										AATTGAAACTGATCCCCAGAC	0.512000														133			19		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9079356	9079356	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:9079356G>A	uc009vmo.1	-	3	348	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	116						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCGGGGATGATGGCAAAGA	0.597000														41			11		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35084685	35084685	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:35084685C>T	uc001ziu.1	-	3	783	c.540G>A	c.(538-540)ctG>ctA	p.L180L	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	180					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)		CAGCCAGATCCAGACGCATGA	0.552000														72			16		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139299123	139299124	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139299123_139299124CC>TT	uc003vvf.4	-	7	2169_2170	c.1898_1899GG>AA	c.(1897-1899)cgg>cAA	p.R633Q	HIPK2_uc003vvd.4_Missense_Mutation_p.R606Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	633	Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGGCATGCTCCGCTGGGCCAC	0.574000														26			9		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94671218	94671218	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94671218C>T	uc001dqj.4	-	5	901	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.E178K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	178					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)		TCCACTGATTCCACAGAAACA	0.318000														65			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074625	9074625	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9074625G>A	uc002mkp.3	-	2	13025	c.12821C>T	c.(12820-12822)cCa>cTa	p.P4274L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4276	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P4274S(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						GGTAACCAATGGAGATGTGGC	0.483000														57			5		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843320	4843320	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4843320C>T	uc010qyn.2	+	0	705	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCCTGATCATTCGATCTG	0.502000														71			14		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994283	140994283	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140994283T>G	uc004fbt.3	+	3	1417	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.F24V	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	365							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)					TCAAAGTACTTTTGAGGGTTT	0.488000										HNSCC(15;0.026)				89			36		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077901	19077901	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:19077901C>T	uc001mph.3	-	1	137	c.49G>A	c.(49-51)Gga>Aga	p.G17R	MRGPRX2_uc021qer.1_Missense_Mutation_p.G17R	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	17					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.G17E(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TGGTCATTTCCATTCACTGTT	0.527000														265			46		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19467928	19467928	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:19467928G>A	uc001bbi.3	-	56	8405	c.8401C>T	c.(8401-8403)Ccc>Tcc	p.P2801S	UBR4_uc001bbk.1_Missense_Mutation_p.P483S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2801					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)		AGCATGGGGGGGAAGCCCTCT	0.587000														93			17		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42487664	42487664	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:42487664G>A	uc003gwr.2	-	24	2405	c.2173C>T	c.(2173-2175)Cgt>Tgt	p.R725C	ATP8A1_uc003gwq.2_Intron|ATP8A1_uc003gws.2_Missense_Mutation_p.R710C	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	725					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTACAGTGACGACTGAGAGTT	0.403000														58			6		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049347	70049347	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70049347C>T	uc010kak.3	+	24	3686	c.3410C>T	c.(3409-3411)tCa>tTa	p.S1137L	BAI3_uc003pev.4_Missense_Mutation_p.S1137L|BAI3_uc011dxx.2_Missense_Mutation_p.S343L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1137					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTTTGATTCATTGCAAGGC	0.443000														117			21		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440855	124440855	+	Silent	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124440855A>T	uc010san.2	+	0	891	c.891A>T	c.(889-891)gtA>gtT	p.V297V		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	297					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)		ACACCACGGTAATCCCCATGT	0.458000														37			6		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156665120	156665120	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156665120G>A	uc003lwo.1	+	9	851	c.769_splice	c.e9-1	p.G257_splice		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	257	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G257D(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCATTCCAGGGCAAAGAAGGA	0.473000			T	SYK	peripheral T-cell lymphoma									41			4		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066818	18066818	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:18066818C>T	uc003stz.3	-	0	669	c.588G>A	c.(586-588)cgG>cgA	p.R196R		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	196					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGGCCTTCTTCCGTTCTTTAT	0.448000														79			12		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69097638	69097638	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:69097638G>A	uc011bfx.2	-	1	465	c.218C>T	c.(217-219)cCa>cTa	p.P73L	TMF1_uc003dnn.3_Missense_Mutation_p.P73L	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	73					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCTATTGGTGGACTCTGAGG	0.428000														102			8		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10254580	10254580	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10254580G>A	uc002mng.3	-	27	3110	c.2930C>T	c.(2929-2931)tCc>tTc	p.S977F	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Missense_Mutation_p.S993F|DNMT1_uc002mnh.3_Missense_Mutation_p.S872F|DNMT1_uc010xld.2_Missense_Mutation_p.S977F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	977	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GATGTAGTCGGAGTATTTCCG	0.567000														245			22		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76407209	76407209	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76407209T>C	uc003pid.4	+	17	2883	c.2264T>C	c.(2263-2265)tTt>tCt	p.F755S	SENP6_uc003pie.4_Missense_Mutation_p.F748S|SENP6_uc010kbf.3_Non-coding_Transcript	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	755	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GAGAAGGATTTTATTTTTGTA	0.323000														36			6		0	0	1	0	0
LOC100131320	100131320	broad.mit.edu	37	2	130725890	130725890	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:130725890C>T	uc002tpw.1	-	5		c.735G>A								Homo sapiens uncharacterized LOC100131320 (LOC100131320), non-coding RNA.																		GACGCTATCCCAAAGGGGAAA	0.428000														36			7		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842521	123842521	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123842521C>T	uc001lfv.3	+	3	866	c.506C>T	c.(505-507)gCc>gTc	p.A169V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A169V|TACC2_uc010qtv.2_Missense_Mutation_p.A169V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	169						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.A169A(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGATTGCTGCCGTCCCCAGT	0.587000														26			4		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95658439	95658439	+	Missense_Mutation	SNP	G	A	A	rs34810012		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:95658439G>A	uc003ygq.4	+	3	602	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	ESRP1_uc003ygr.4_Missense_Mutation_p.R140Q|ESRP1_uc003ygs.4_Missense_Mutation_p.R140Q|ESRP1_uc003ygt.4_Missense_Mutation_p.R140Q|ESRP1_uc003ygu.4_Missense_Mutation_p.R140Q|ESRP1_uc003ygv.3_5'UTR|ESRP1_uc003ygw.3_5'UTR	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	140					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTTGATCTTCGAAAAGAATTC	0.358000														66			6		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592448	33592448	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:33592448G>A	uc001rll.1	-	0	307	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	4						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.F3F(1)		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)					TCCTCCTTGTGGAAACTCATC	0.542000														188			15		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674269	4674269	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4674269C>T	uc021qcq.1	+	0	513	c.513C>T	c.(511-513)ttC>ttT	p.F171F	OR51E1_uc001lzi.4_Silent_p.F171F	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTGCCCTTCTGCCGCTCCA	0.537000														155			10		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117228820	117228820	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:117228820C>T	uc001lcg.3	+	23	4021	c.3635C>T	c.(3634-3636)tCc>tTc	p.S1212F	ATRNL1_uc010qsm.2_Missense_Mutation_p.S341F|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1212						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)		AGCAACTTTTCCTGGCCTATT	0.289000														42			7		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101578623	101578623	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:101578623T>A	uc001kqf.2	+	17	2487	c.2348T>A	c.(2347-2349)cTt>cAt	p.L783H		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	783	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GACATCTATCTTCTAGATGAC	0.428000														54			14		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768684	31768684	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31768684C>T	uc002nsy.4	-	1	2080	c.2015G>A	c.(2014-2016)aGc>aAc	p.S672N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	672					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCGCGGGGGGCTGGGGCTGTT	0.657000														44			4		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143027984	143027984	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143027984G>A	uc003wcr.1	+	7	1060	c.973G>A	c.(973-975)Gat>Aat	p.D325N	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.R120R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	325					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.D325N(2)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGGAACAAGGATGCTGGTAA	0.522000														115			5		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17464556	17464556	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:17464556C>T	uc003zmz.2	+	20	3489	c.3463C>T	c.(3463-3465)Cga>Tga	p.R1155*	CNTLN_uc003zmy.3_Nonsense_Mutation_p.R1156*|CNTLN_uc010mio.3_Nonsense_Mutation_p.R835*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1156						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTTGAAATTTCGACAGAAAGT	0.284000														49			6		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126146083	126146083	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:126146083C>T	uc011lzm.1	-	19	1934	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	DENND1A_uc011lzl.1_Missense_Mutation_p.D381N|DENND1A_uc004bny.1_Missense_Mutation_p.D345N|DENND1A_uc004bnz.1_Missense_Mutation_p.D563N|DENND1A_uc010mwh.1_5'UTR	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	563						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCAGCCCGGTCAGGGGGAGCT	0.632000														108			18		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55452983	55452983	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55452983G>A	uc002qih.4	-	1	173	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	NLRP7_uc010esk.3_Missense_Mutation_p.P33S|NLRP7_uc002qig.4_Missense_Mutation_p.P33S|NLRP7_uc002qii.4_Missense_Mutation_p.P33S|NLRP7_uc010esl.3_Missense_Mutation_p.P61S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	33	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTTCGAGGGGAAAAGCCCAT	0.493000														54			4		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962250	73962250	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73962250C>T	uc004eby.3	-	2	2759	c.2142G>A	c.(2140-2142)agG>agA	p.R714R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	714					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	p.E713E(1)		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						TGAGCACTTTCCTCTCTGGCC	0.418000														40			8		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116414943	116414943	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:116414943C>T	uc003vij.3	+	14	3224	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	MET_uc010lkh.3_Missense_Mutation_p.P1031S|MET_uc011knj.2_Missense_Mutation_p.P583S	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1013					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(8)|p.L982_D1028del(3)|p.D981_D1028del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATCAGTTTCCTAATTCATC	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					48			5		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102562710	102562710	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102562710T>G	uc001phd.1	-	9	1352	c.1329A>C	c.(1327-1329)caA>caC	p.Q443H		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	443	Hemopexin-like 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CGTATTCAAATTGCTTTGATC	0.313000														27			5		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23702404	23702404	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:23702404C>T	uc003xdw.1	-	3	907	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	208					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAAGTCAGCTCGTGGGTGTGT	0.557000														65			13		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032310	79032310	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:79032310C>T	uc003kgc.3	+	1	7794	c.7722C>T	c.(7720-7722)atC>atT	p.I2574I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2574						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATCAGATATCTCTTTAGGTC	0.398000														6			3		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869776	151869776	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151869776G>A	uc022chf.1	+	0	466	c.466G>A	c.(466-468)Gat>Aat	p.D156N	MAGEA6_uc004ffq.1_Missense_Mutation_p.D156N|MAGEA6_uc004ffr.1_Missense_Mutation_p.D156N	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	156	MAGE.						protein binding	p.D156Y(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGCTTCCGATTCCTTGCA	0.552000														72			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140753889	140753889	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140753889G>A	uc003ljy.2	+	0	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	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_uc011dau.2_Missense_Mutation_p.R80Q	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	80	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)			CTGAATCCGCGAAACGGCAGC	0.572000														69			11		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43412875	43412875	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43412875C>T	uc003ouy.1	+	13	3068	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	ABCC10_uc003ouz.1_Silent_p.F923F|ABCC10_uc010jyo.1_Silent_p.F57F	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	951	ABC transmembrane type-1 2.					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)			TCCCAGTGTTCCCACTGCCCA	0.592000														92			13		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863245	55863246	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55863245_55863246GA>AC	uc010spn.2	-	0	677_678	c.677_678TC>GT	c.(676-678)ttc>tGT	p.F226C		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GAGCTGAAGGGAATTTCAGAAT	0.361000														95			12		0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261257	49261258	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49261257_49261258CC>GT	uc002pkn.1	+	3	982_983	c.410_411CC>GT	c.(409-411)tcc>tGT	p.S137C	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.S137C	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	137					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GTTTACCAGTCCGAAGCCCACG	0.619000														190			23		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12649237	12649237	+	Splice_Site	SNP	G	A	A	rs138967735		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:12649237G>A	uc002gno.2	+	9	1271	c.972_splice	c.e9-1	p.K324_splice	MYOCD_uc002gnn.2_Splice_Site_p.K324_splice|MYOCD_uc002gnp.1_Splice_Site_p.K228_splice|MYOCD_uc002gnq.2_Splice_Site_p.K43_splice	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	324					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	p.E325K(1)		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)		GTTTTTTAGGGAACCAAATGA	0.418000														119			11		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96768431	96768431	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:96768431G>A	uc001yfi.3	-	33	5417	c.5052C>T	c.(5050-5052)gcC>gcT	p.A1684A		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1684										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACACGTGTAAGGCTTTCACTG	0.413000														44			12		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118781	100118781	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:100118781C>T	uc010avs.3	+	1	541	c.476C>T	c.(475-477)cCt>cTt	p.P159L	HHIPL1_uc001ygl.1_Missense_Mutation_p.P159L	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	159					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TACTGCTTCCCTTACCTGCTG	0.612000														64			8		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31362362	31362362	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:31362362C>T	uc021sia.1	-	2	516	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	TRPM1_uc010azy.3_5'Flank|TRPM1_uc001zfl.3_5'Flank|TRPM1_uc021shz.1_Missense_Mutation_p.E51K|TRPM1_uc001zfm.3_Missense_Mutation_p.E29K|TRPM1_uc001zfn.4_Missense_Mutation_p.E29K|TRPM1_uc010ubn.1_Non-coding_Transcript	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	29					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTTCCTCTTCATTTTTGCTG	0.493000														323			76		0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266738	55266738	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55266738G>A	uc009vzt.1	-	0	204	c.99C>T	c.(97-99)ttC>ttT	p.F33F	TTC22_uc001cxz.4_Silent_p.F33F	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	33							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						AGCGCGGCTCGAAGTTCAACT	0.706000														42			12		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55357683	55357683	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55357683G>A	uc010spd.1	-	7	631	c.498C>T	c.(496-498)ttC>ttT	p.F166F	TESPA1_uc001sgl.3_Silent_p.F28F|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_Silent_p.F28F|TESPA1_uc001sgn.3_Silent_p.F166F	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	166																	AGCCCAGACTGAAGAGGACAT	0.483000														100			7		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616058	173616058	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173616058G>A	uc001gja.1	-	2	484	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	157										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTCTTCCCGGAAGTTCAAAG	0.468000														100			7		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945579	45945579	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45945579C>G	uc002zfe.1	-	7	1359	c.1293G>C	c.(1291-1293)gaG>gaC	p.E431D	TSPEAR_uc010gpv.1_Missense_Mutation_p.E363D	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	431					cell adhesion	extracellular region	structural molecule activity	p.F430S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCCATCCACCTCGAAGGCCT	0.587000														164			19		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345329	20345329	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20345329G>A	uc001vwh.1	+	0	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGGAAACTGAAAAATAGGT	0.348000														76			4		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355304	175355304	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175355304C>T	uc001gkp.1	-	5	1722	c.1641G>A	c.(1639-1641)agG>agA	p.R547R	TNR_uc009wwu.1_Silent_p.R547R	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	547	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGAAGGTGGTCCTCCCACCTT	0.597000														48			4		0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261496	67261496	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:67261496G>A	uc001olx.3	-	18	3094	c.2905C>T	c.(2905-2907)Cac>Tac	p.H969Y	PITPNM1_uc001olw.3_Missense_Mutation_p.H251Y|PITPNM1_uc001oly.3_Missense_Mutation_p.H969Y|PITPNM1_uc001olz.3_Missense_Mutation_p.H968Y	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	969					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTGCCAAAGTGGATCCACTTG	0.637000														44			5		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6664984	6664984	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6664984G>A	uc002mfk.2	-	4	1058	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TNFSF14_uc002mfj.2_Nonsense_Mutation_p.R190*	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	226					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602000														141			15		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51753065	51753066	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:51753065_51753066GG>AA	uc001ryk.2	-	6	1443_1444	c.1218_1219CC>TT	c.(1216-1221)ggccat>ggTTat	p.H407Y	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.H407Y|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	407	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGGAACACATGGCCTACGACAG	0.584000														186			14		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137708903	137708903	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:137708903C>T	uc004cfe.3	+	52	4536	c.4154C>T	c.(4153-4155)cCa>cTa	p.P1385L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1385	Triple-helical 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)		GAACCAGGTCCATCGGGGCCT	0.542000														40			14		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098223	168098223	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168098223C>T	uc010jjg.3	-	33	4548	c.4128G>A	c.(4126-4128)cgG>cgA	p.R1376R	SLIT3_uc003mab.3_Silent_p.R1369R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1369	EGF-like 8.				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)			GGCAGGGGTCCCGGGCCTCCT	0.677000														46			10		0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678517	37678517	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:37678517C>T	uc001uwm.1	-	0	1285	c.877G>A	c.(877-879)Gac>Aac	p.D293N		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	293					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.Y292H(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AATGTGTAGTCATATTGGTGG	0.512000														73			8		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536766	4536766	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4536766C>T	uc002fyh.3	-	8	1216	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L	ALOX15_uc010vsd.2_Silent_p.L358L|ALOX15_uc010vse.2_Silent_p.L419L	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	397	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CGTTAATTTCCAGGGTGTATC	0.522000														84			20		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233135013	233135013	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:233135013C>A	uc001hvl.2	-	30	5676	c.5441G>T	c.(5440-5442)cGg>cTg	p.R1814L	PCNXL2_uc001hvk.1_Missense_Mutation_p.R466L|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1814						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AATCAAGTTCCGCAGGACCTG	0.562000														9			4		0.014758	0.0147863	1	1	0
C20orf160	140706	broad.mit.edu	37	20	30610518	30610518	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30610518G>A	uc002wxf.2	+	5	1002	c.989G>A	c.(988-990)gGg>gAg	p.G330E	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	330								p.Y329Y(2)		central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						ATCATCTACGGGGACCAGAGT	0.592000														81			7		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33148110	33148110	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33148110C>T	uc003ocx.1	-	12	1513	c.1285_splice	c.e12-1	p.G429_splice	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Splice_Site_p.G343_splice|COL11A2_uc003ocz.1_Splice_Site_p.G322_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	429	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGGGGGCCCTGGAGTGGGA	0.502000														64			17		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679806	100679806	+	Silent	SNP	C	T	T	rs71525815		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100679806C>T	uc003uxp.1	+	2	5162	c.5109C>T	c.(5107-5109)gcC>gcT	p.A1703A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1703	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1703A(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCGGTGGCCAGCTCTGCAA	0.478000														236			99		0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123660	65123660	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:65123660G>A	uc021qlj.1	+	0	381	c.381G>A	c.(379-381)tgG>tgA	p.W127*	TIGD3_uc001odo.4_Nonsense_Mutation_p.W127*	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	127	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGGTCCGCTGGAAACGCCGAA	0.657000														63			5		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967736	106967736	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:106967736C>T	uc003prh.3	+	1	2341	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	477							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGGGATGTTCCCAAAGACAC	0.483000														99			25		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053349	133053349	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:133053349G>A	uc003ytg.2	-	3	351	c.351C>T	c.(349-351)ctC>ctT	p.L117L	OC90_uc011lix.1_Silent_p.L133L	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	133	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CGGGGTCTTGGAGACAGTCCA	0.572000														79			10		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109773785	109773785	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:109773785G>A	uc011eaq.2	-	4	953	c.662C>T	c.(661-663)cCc>cTc	p.P221L	MICAL1_uc003ptj.3_Missense_Mutation_p.P202L|MICAL1_uc003ptk.3_Missense_Mutation_p.P202L|MICAL1_uc010kdr.3_Missense_Mutation_p.P202L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	202					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGGGCAGGGGGGTTGGGTTG	0.552000														26			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584699	82584699	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82584699G>A	uc003uhx.2	-	4	5859	c.5570C>T	c.(5569-5571)tCt>tTt	p.S1857F	PCLO_uc003uhv.2_Missense_Mutation_p.S1857F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1788					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAATATTCAGAACAAGAAGA	0.408000														118			20		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926418	6926418	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6926418C>T	uc002mfw.3	+	15	2066	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	EMR1_uc010dvc.3_Silent_p.F611F|EMR1_uc010dvb.3_Silent_p.F624F|EMR1_uc010xji.2_Silent_p.F535F|EMR1_uc010xjj.2_Silent_p.F499F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	676					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTACCTTTTCCTTGCCTGCT	0.522000														63			11		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614165	36614165	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:36614165C>T	uc021qge.1	-	0	1554	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Silent_p.K518K|RAG2_uc021qgd.1_Silent_p.K518K|RAG2_uc001mwv.4_Silent_p.K518K|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.	518					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)				GAAAGGATTTCTTGGCAGGAG	0.358000									Familial Hemophagocytic Lymphohistiocytosis					36			9		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962279	56962279	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:56962279C>T	uc001cyj.2	-	5	1448	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	294					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAAAGGATTTCCTTCCGGATA	0.478000														94			10		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348419	100348419	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100348419G>A	uc003uwj.3	+	11	1586	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	ZAN_uc003uwk.3_Missense_Mutation_p.G474E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	474	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTCCTGCGGGGAGTCCCCCG	0.617000														16			6		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7985359	7985359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7985359G>A	uc010sgh.2	-	1	205	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	SLC2A14_uc001qtk.3_Nonsense_Mutation_p.Q47*|SLC2A14_uc001qtl.3_Nonsense_Mutation_p.Q24*|SLC2A14_uc001qtm.3_Nonsense_Mutation_p.Q24*|SLC2A14_uc010sgg.2_5'UTR|SLC2A14_uc001qtn.3_Nonsense_Mutation_p.Q47*|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	47					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.I61I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAGCCAAACTGGAAAGAGCCG	0.468000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			14		0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635235	200635236	+	Missense_Mutation	DNP	CA	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:200635235_200635236CA>TT	uc009wzk.3	-	1	876_877	c.633_634TG>AA	c.(631-636)cctgag>ccAAag	p.E212K	DDX59_uc010ppl.1_Missense_Mutation_p.E212K	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	212						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TTTAAGACCTCAGGGAGACTAC	0.436000														149			27		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38038994	38038994	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:38038994C>T	uc003ati.3	+	4	1115	c.377C>T	c.(376-378)cCa>cTa	p.P126L	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.P126L|SH3BP1_uc003ath.1_Missense_Mutation_p.P126L|SH3BP1_uc003atj.1_Missense_Mutation_p.P62L|SH3BP1_uc003atk.1_Missense_Mutation_p.P40L|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	126	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GTCCTGCAGCCACTCAGCAGG	0.637000											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			9		0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731474	45731474	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:45731474G>A	uc002pay.1	-	2	182	c.141C>T	c.(139-141)caC>caT	p.H47H		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	47										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGCTCCCCCAGTGCTCTTCGT	0.667000														118			21		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043419	117043419	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117043419C>T	uc011mtp.2	-	5	1353	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	KLHL13_uc004eqk.3_Missense_Mutation_p.G353E|KLHL13_uc004eql.3_Missense_Mutation_p.G404E|KLHL13_uc011mtn.2_Missense_Mutation_p.G244E|KLHL13_uc011mto.2_Missense_Mutation_p.G398E|KLHL13_uc011mtq.2_Missense_Mutation_p.G388E|KLHL13_uc004eqm.3_Missense_Mutation_p.G362E|KLHL13_uc022cde.1_Missense_Mutation_p.G388E	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	404					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.G404E(1)		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						TGCCGTTTTTCCTTTTGTATC	0.433000														34			9		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554636	150554636	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150554636G>A	uc003why.1	+	2	5296	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	ABP1_uc003whz.1_Missense_Mutation_p.G360R|ABP1_uc003wia.1_Missense_Mutation_p.G360R	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	360					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GGCGCTGTATGGAGGACACAC	0.647000														119			10		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154320959	154320959	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:154320959C>T	uc001fex.3	+	26	3338	c.3338C>T	c.(3337-3339)cCc>cTc	p.P1113L		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	1099					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCATCATGCCCGTGGTTGCC	0.612000														23			4		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734834	173734834	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:173734834C>T	uc003isv.3	+	6	1619	c.883C>T	c.(883-885)Cct>Tct	p.P295S		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	295						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AATCCCCATCCCTCCAGAGCT	0.557000														36			8		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91818668	91818668	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:91818668C>T	uc001doa.4	-	14	1870	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	HFM1_uc009wdb.3_5'Flank|HFM1_uc010osu.2_Missense_Mutation_p.E270K|HFM1_uc010osv.1_Missense_Mutation_p.E275K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	591	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTGACAGCTCCATACCAGCA	0.318000														58			12		0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008759	88008759	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:88008759G>A	uc022bzq.1	+	0	344	c.344G>A	c.(343-345)gGg>gAg	p.G115E	CPXCR1_uc004efd.4_Missense_Mutation_p.G115E|CPXCR1_uc004efc.4_Missense_Mutation_p.G115E	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	115						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCCCACTCAGGGAAAGTTGAG	0.388000														19			9		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791484	95791484	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:95791484G>A	uc001kjk.3	+	1	1315	c.681G>A	c.(679-681)aaG>aaA	p.K227K	PLCE1_uc010qnx.2_Silent_p.K227K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	227					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGAAGCAAAAGAAAAACTATG	0.388000														38			5		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120483292	120483292	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120483292G>A	uc001eik.3	-	18	3366	c.3069C>T	c.(3067-3069)ctC>ctT	p.L1023L	NOTCH2_uc001eil.3_Silent_p.L1023L	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1023	EGF-like 26; 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)		TGATCTCATGGAGGCAGAAGG	0.522000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					74			28		0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46693861	46693861	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46693861C>T	uc001nda.3	+	17	2260	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	ATG13_uc009yld.3_Silent_p.A511A|ATG13_uc001ndb.3_Silent_p.A511A|ATG13_uc001ncz.3_Silent_p.A474A|ATG13_uc001ndc.3_Silent_p.A474A|ATG13_uc010rgv.2_Silent_p.A395A	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	511					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGTTTGATGCCTTTGTGGAAA	0.542000														117			8		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168575	50168575	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:50168575G>A	uc001zxu.3	-	24	3069	c.2927C>T	c.(2926-2928)gCc>gTc	p.A976V	ATP8B4_uc010ber.3_Missense_Mutation_p.A849V|ATP8B4_uc010ufd.2_Missense_Mutation_p.A786V|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	976					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTTGTAAAAGGCCCCATAGGG	0.453000														58			10		0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52659398	52659398	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:52659398G>A	uc011moa.1	+	6		c.895G>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		AGAACGATGGGAAACAGCTGC	0.463000														79			47		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651506	75651506	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75651506G>A	uc002bah.3	-	17	2103	c.2086C>T	c.(2086-2088)Cct>Tct	p.P696S	MAN2C1_uc010bkk.3_Intron|MAN2C1_uc002baf.3_Intron|MAN2C1_uc002bag.3_Intron			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	673					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTGTGGGAGGAGGCCTTGAG	0.612000														35			5		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265493	10265493	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10265493C>T	uc002gmk.1	-	4	537	c.447G>A	c.(445-447)caG>caA	p.Q149Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	149	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCGGGGCCTCCTGGCGCTTTT	0.517000														120			25		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18852748	18852748	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18852748C>T	uc021qvx.1	-	9	1345	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	PLCZ1_uc001rdv.4_Missense_Mutation_p.R281Q|PLCZ1_uc001rdw.4_Missense_Mutation_p.R126Q|PLCZ1_uc001rdu.1_Missense_Mutation_p.R167Q|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	385	PI-PLC Y-box.				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)					TGAAAGTTTTCGGGCTTGTGT	0.313000														35			5		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112141880	112141880	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:112141880G>A	uc004bed.2	-	25	2810	c.2698C>T	c.(2698-2700)Cgt>Tgt	p.R900C	PTPN3_uc004beb.2_Missense_Mutation_p.R769C|PTPN3_uc004bec.2_Missense_Mutation_p.R724C|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R855C|PTPN3_uc011lwh.1_Missense_Mutation_p.R746C|PTPN3_uc011lwd.1_Missense_Mutation_p.R368C|PTPN3_uc011lwe.1_Missense_Mutation_p.R613C|PTPN3_uc011lwf.1_Missense_Mutation_p.R568C	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	900	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATACACACGAAGAATCGCT	0.443000														40			9		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72968699	72968699	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:72968699G>A	uc003pga.3	+	17	3015	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	RIMS1_uc011dyb.2_Missense_Mutation_p.E605K|RIMS1_uc003pgc.3_Missense_Mutation_p.E606K|RIMS1_uc010kaq.3_Missense_Mutation_p.E453K|RIMS1_uc011dyc.2_Missense_Mutation_p.E454K|RIMS1_uc010kar.3_Missense_Mutation_p.E373K|RIMS1_uc011dyd.2_Missense_Mutation_p.E439K|RIMS1_uc003pge.3_Missense_Mutation_p.E197K|RIMS1_uc003pgf.3_Missense_Mutation_p.E196K|RIMS1_uc003pgi.3_Missense_Mutation_p.E196K|RIMS1_uc003pgg.3_Missense_Mutation_p.E197K|RIMS1_uc003pgh.3_Missense_Mutation_p.E196K|RIMS1_uc003pgd.3_Missense_Mutation_p.E197K|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.E606K|RIMS1_uc010kas.1_Missense_Mutation_p.E439K	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	980					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGTTTAGATGAAATTCATCC	0.383000														75			9		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502478	20502478	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20502478G>A	uc010tkz.2	-	0	440	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S147F(2)|p.L146V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGCATAGGAGGATAACAGTAG	0.463000														100			26		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884104	36884104	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36884104G>A	uc002ody.1	-	4	1373	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	380					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(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAATAAGATGATAACCACGG	0.393000														96			7		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937343	66937343	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:66937343G>A	uc004dwu.2	+	4	3312	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N	AR_uc022byk.1_Intron|AR_uc004dwv.2_Missense_Mutation_p.D201N	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	732	Interaction with MYST2.|Ligand-binding.		Q -> H (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ACACGTGGACGACCAGATGGC	0.557000									Androgen Insensitivity Syndrome					29			6		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124120661	124120661	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124120661A>C	uc001pzx.3	+	0	239	c.239A>C	c.(238-240)aAg>aCg	p.K80T		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	80					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)		ATTACCCCTAAGATGCTGGTG	0.458000														78			11		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215117	105215117	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:105215117G>A	uc001kxe.2	-	1	1083	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	CALHM2_uc001kxa.3_5'Flank|CALHM2_uc001kxc.3_5'Flank|CALHM2_uc001kxb.3_5'Flank|CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	315						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TCCTGGCCCAGCCGCAGAGGC	0.647000														37			4		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345460	119345460	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:119345460C>T	uc003pyj.3	-	1	1026	c.678G>A	c.(676-678)gaG>gaA	p.E226E	FAM184A_uc003pyk.4_Silent_p.E106E|FAM184A_uc003pyl.4_Silent_p.E106E	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	226										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GGGACTCCACCTCCATTCTGT	0.433000														40			9		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354893	77354893	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:77354893C>T	uc004ajl.1	-	33	5471	c.5233G>A	c.(5233-5235)Gag>Aag	p.E1745K	TRPM6_uc004ajk.1_Missense_Mutation_p.E1740K|TRPM6_uc022bib.1_Missense_Mutation_p.E1740K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.E696K|TRPM6_uc010mpd.1_Missense_Mutation_p.E578K|TRPM6_uc010mpe.1_Missense_Mutation_p.E292K|TRPM6_uc004ajj.1_Missense_Mutation_p.E701K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1745					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGGAACTCTCCTCCAACCTG	0.463000														35			12		0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699245	117699245	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117699245G>A	uc001ehb.3	-	2	501	c.396C>T	c.(394-396)atC>atT	p.I132I	VTCN1_uc021osn.1_Silent_p.I37I|VTCN1_uc021oso.1_Intron|VTCN1_uc001ehc.3_Silent_p.I37I|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	132	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TAGAAGTGATGATATAACATT	0.428000														74			4		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6066262	6066262	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:6066262C>T	uc001iiz.2	-	2	531	c.312G>A	c.(310-312)agG>agA	p.R104R	IL2RA_uc009xih.2_Silent_p.R104R|IL2RA_uc001ija.1_Silent_p.R66R	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	104					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGTGGTTTTCCTTTCTTTCT	0.458000														44			8		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910307	10910307	+	Splice_Site	SNP	C	T	T	rs147571556		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:10910307C>T	uc002yip.1	-	22	1817	c.1449_splice	c.e22+1	p.S483_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S465_splice|TPTE_uc002yir.1_Splice_Site_p.S445_splice|TPTE_uc010gkv.1_Splice_Site_p.S345_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	483	C2 tensin-type.				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)		GATTACTCACCGAATAGAAAA	0.373000														75			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784560	140784560	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140784560C>G	uc003lkh.2	+	0	2041	c.2041C>G	c.(2041-2043)Cct>Gct	p.P681A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.P681A	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	683					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)			TCTTCAGATCCCTGCAGACCT	0.602000														116			10		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139912294	139912294	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:139912294G>A	uc004ckm.1	-	15	2293	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	ABCA2_uc022bpy.1_Missense_Mutation_p.S649F|ABCA2_uc022bpz.1_Missense_Mutation_p.S719F|ABCA2_uc011mem.1_Missense_Mutation_p.S718F|ABCA2_uc004ckl.1_Missense_Mutation_p.S649F|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.	718					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)		CATGGCCACGGAGTAGACCCA	0.672000														30			7		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701930	30701930	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:30701930G>A	uc003xil.3	-	0	4604	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1535										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTTAAGCGGATTAGAAAC	0.353000														153			9		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923615	24923615	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:24923615C>T	uc001ywo.3	+	0	3075	c.2601C>T	c.(2599-2601)gcC>gcT	p.A867A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	867					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACAGCATTGCCTCAGCCCAAG	0.488000														74			10		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54792448	54792448	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54792448G>A	uc001sga.3	-	27	2944	c.2876C>T	c.(2875-2877)gCt>gTt	p.A959V		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	959					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.A959V(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TTTGTACACAGCCTCACACTG	0.567000														26			7		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:25718576C>T	uc003xes.2	-	12	1596	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000														81			16		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49763594	49763594	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49763594C>T	uc001jgu.3	-	3	532	c.235_splice	c.e3-1	p.G79_splice	ARHGAP22_uc001jgt.3_Splice_Site_p.G79_splice|ARHGAP22_uc010qgl.2_Splice_Site_p.G79_splice|ARHGAP22_uc010qgm.2_Splice_Site_p.G85_splice|ARHGAP22_uc001jgv.3_Splice_Site	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	79	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGAAATAAATCCCTAAAAAGG	0.567000														49			10		0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35447092	35447092	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35447092G>A	uc003oku.4	-	5	567	c.331_splice	c.e5-1	p.A111_splice	TEAD3_uc003okt.3_5'UTR|TEAD3_uc010jvx.3_Splice_Site_p.A51_splice	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	111					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CAGGTTCATGGCCTGTGAGGG	0.527000														43			13		0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17731949	17731949	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:17731949G>A	uc003wye.3	-	5	1142	c.476C>T	c.(475-477)tCt>tTt	p.S159F	FGL1_uc003wxx.3_Missense_Mutation_p.S109F|FGL1_uc003wxy.3_Missense_Mutation_p.S109F|FGL1_uc003wya.3_Missense_Mutation_p.S109F|FGL1_uc003wyb.3_Missense_Mutation_p.S109F	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	109	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		ACAATAAACAGAAAATTCTGC	0.378000														78			6		0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102793024	102793024	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:102793024C>T	uc002tbq.3	+	11	1833	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	IL1R1_uc010fix.3_Silent_p.F474F|IL1R1_uc002tbr.3_Silent_p.F505F	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	505	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CGATTAAATTCATTAAGCAGA	0.438000														37			6		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089892	57089892	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57089892C>T	uc002qnl.4	+	5	2771	c.2095C>T	c.(2095-2097)Cat>Tat	p.H699Y	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	699					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)		TCAGCGAATTCATACCGGAga	0.423000														42			7		0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185500	41185500	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:41185500G>A	uc003oqb.3	-	0		c.186C>T								Homo sapiens triggering receptor expressed on myeloid cells-like 3 (TREML3), non-coding RNA.																		GAATCATGGTGATTTTGAAGA	0.473000														30			4		0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75393768	75393768	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:75393768G>A	uc001jur.3	-	4	923	c.558C>T	c.(556-558)tcC>tcT	p.S186S		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	186					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCTCCCATGGGGAAATATAGG	0.478000														63			3		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637647	158637647	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158637647C>T	uc001fst.1	-	15	2237	c.2038_splice	c.e15+1	p.G680_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	680					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGCTTTTTACCTTTCTGTTT	0.428000														20			4		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116056765	116056765	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:116056765C>T	uc001lbn.3	-	17	2703	c.2402G>A	c.(2401-2403)gGc>gAc	p.G801D	AFAP1L2_uc001lbo.3_Missense_Mutation_p.G797D|AFAP1L2_uc010qse.2_Missense_Mutation_p.G854D|AFAP1L2_uc001lbp.3_Missense_Mutation_p.G825D|AFAP1L2_uc001lbm.3_Missense_Mutation_p.G240D|AFAP1L2_uc010qsd.2_Missense_Mutation_p.G363D|AFAP1L2_uc001lbq.1_Missense_Mutation_p.G323D	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	801					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)		AGTGCCTTTGCCTGTGACCAC	0.577000														82			20		0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910702	108910702	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:108910702G>A	uc002tdy.3	+	2	622	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc010ywq.2_Missense_Mutation_p.E57K|SULT1C2_uc002tdx.3_Missense_Mutation_p.E57K	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	57					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GTGGATTCAGGAAATTGTGGA	0.502000														132			30		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67268166	67268166	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:67268166G>A	uc002esl.3	-	12	1552	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	FHOD1_uc010ced.3_Silent_p.A287A|FHOD1_uc010vjh.1_Silent_p.A140A	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	480					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGAGTTGCCGGGCATCTAAAG	0.642000														54			3		0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370155	11370155	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:11370155C>T	uc002dau.1	-	0	183	c.73G>A	c.(73-75)Gag>Aag	p.E25K	RMI2_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank	NM_002762	NP_002753	P04554	PRM2_HUMAN	Homo sapiens protamine 2 (PRM2), mRNA.	25					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.E25*(2)|p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TGTCCTTGCTCTTGCCCATGC	0.622000														57			8		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266550	124266550	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124266550C>T	uc010saj.2	-	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTTGATCTTCCTTGAGTGGA	0.373000														73			9		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2909255	2909255	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:2909255G>A	uc010ckd.3	+	15	1369	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	RAP1GAP2_uc010cke.3_Missense_Mutation_p.E412K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	427	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGGGCCCGGAATTCAGGGA	0.572000														69			5		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42310424	42310424	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:42310424G>A	uc002xlb.1	+	3	330	c.115_splice	c.e3-1	p.D39_splice	MYBL2_uc010zwj.1_Intron	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	39	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTGTTGGCAGGACGAGCAGCT	0.582000														65			4		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116935538	116935538	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:116935538T>C	uc001ege.3	+	10	1734	c.1395T>C	c.(1393-1395)ggT>ggC	p.G465G	ATP1A1_uc010owv.1_Silent_p.G434G|ATP1A1_uc010oww.2_Silent_p.G465G|ATP1A1_uc010owx.2_Silent_p.G434G|ATP1A1OS_uc009whb.2_Non-coding_Transcript	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	465					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGTGCTGTGGTTCCGTGAAGG	0.483000														72			26		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27244026	27244026	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:27244026G>A	uc010hfk.3	-	2	278	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S	NEK10_uc003cds.1_Missense_Mutation_p.P102S|NEK10_uc010hfj.3_Missense_Mutation_p.P17S			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	705							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCCCATACGGCTCACTCTTC	0.473000														32			6		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997344	146997344	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:146997344C>T	uc003weu.2	+	8	1976	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	487	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTAATAGTCCCCTTCAAGTT	0.403000										HNSCC(39;0.1)				78			10		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17415870	17415870	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:17415870C>T	uc003zmz.2	+	16	2904	c.2878C>T	c.(2878-2880)Cct>Tct	p.P960S	CNTLN_uc003zmy.3_Missense_Mutation_p.P961S|CNTLN_uc010mio.3_Missense_Mutation_p.P640S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	961						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TACAGCAGTTCCTACTAGAGG	0.264000														37			3		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177225235	177225235	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:177225235C>T	uc001glf.3	+	2	762	c.450C>T	c.(448-450)gcC>gcT	p.A150A	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	150						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TACTTTCTGCCACCCTTGGAG	0.438000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			7		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518068	113518068	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:113518068C>T	uc010ljy.1	-	3	3110	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1027					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTTCATTTTCATGCCTTGCT	0.398000														161			10		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26101376	26101376	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:26101376C>T	uc002gzu.3	-	11	1647	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*	NOS2_uc010crh.1_Nonsense_Mutation_p.W461*|NOS2_uc010wab.1_Nonsense_Mutation_p.W461*	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	461					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCAGCCAAATCCAGTCTGCCG	0.552000														46			4		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476499	21476499	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:21476499T>C	uc002npq.1	-	3	1467	c.1269A>G	c.(1267-1269)gaA>gaG	p.E423E	ZNF708_uc002npr.1_Silent_p.E359E|ZNF708_uc010ecs.1_Silent_p.E359E	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TACCACATTCTTCACATTTGT	0.338000														26			7		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759398	6759398	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:6759398A>G	uc002wmu.1	+	2	1638	c.853A>G	c.(853-855)Aaa>Gaa	p.K285E		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	285					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ACGTCAAGCCAAACACAAACA	0.493000														35			12		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023298	18023298	+	Missense_Mutation	SNP	C	T	T	rs140221279	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:18023298C>T	uc021trm.1	+	0	1403	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L	MYO15A_uc021trl.1_Missense_Mutation_p.P395L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	395	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.P395P(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATCTACCCCCCCGAGGTGCCC	0.627000														61			7		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616639	77616639	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77616639C>T	uc003yau.2	+	1	703	c.316C>T	c.(316-318)Cct>Tct	p.P106S	ZFHX4_uc003yat.1_Missense_Mutation_p.P106S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P106S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	106						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)			TGCCCGCCTTCCTGTCCTGAA	0.502000										HNSCC(33;0.089)				136			17		0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37569619	37569619	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:37569619C>G	uc001uvy.3	-	1	248	c.181G>C	c.(181-183)Gac>Cac	p.D61H	ALG5_uc010teq.2_Missense_Mutation_p.D61H|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	61					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTAGGTGAGTCCCATATGCTG	0.388000														59			12		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994790	121994790	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121994790C>T	uc003eew.4	+	4	1947	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	CASR_uc003eev.4_Silent_p.I503I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	503					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATGGCTCCATCGTGTTTAAGG	0.507000														108			27		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167034821	167034821	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:167034821G>A	uc011bpc.2	-	13	1503	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	ZBBX_uc003feq.3_Missense_Mutation_p.P360L|ZBBX_uc003fep.3_Missense_Mutation_p.P389L	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	389						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTTTAGAGATGGTTCAGGTCT	0.348000														56			6		0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738518	41738518	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:41738518G>A	uc003orc.1	-	6	1562	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	440					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.Q440H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATGGGGGCTTGGGGGCTCGAG	0.647000														115			11		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22190073	22190073	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:22190073C>T	uc003svg.3	-	17	1690	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	RAPGEF5_uc011jyl.1_Silent_p.E140E	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	309	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GACCAGATGCCTCGAGGGATT	0.403000														114			19		0	0	1	0	0
CCL2	6347	broad.mit.edu	37	17	32583287	32583287	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:32583287G>A	uc002hhy.3	+	1	196	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_002982	NP_002973	P13500	CCL2_HUMAN	Homo sapiens chemokine (C-C motif) ligand 2 (CCL2), mRNA.	41		Involved in GAG binding.			G-protein signaling, coupled to cyclic nucleotide second messenger|JAK-STAT cascade|angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|helper T cell extravasation|humoral immune response|inflammatory response|macrophage chemotaxis|monocyte chemotaxis|positive regulation of T cell activation|positive regulation of nitric-oxide synthase biosynthetic process|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TCACCAATAGGAAGATCTCAG	0.448000														89			8		0	0	1	0	0
POLB	5423	broad.mit.edu	37	8	42207536	42207536	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:42207536T>G	uc003xoz.2	+	4	443	c.273T>G	c.(271-273)gaT>gaG	p.D91E	POLB_uc011lcs.2_Intron	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	91					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TTCGGCAGGATGATACGAGTT	0.343000								DNA polymerases (catalytic subunits)						57			9		0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56868648	56868648	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:56868648C>T	uc002eka.3	+	15	1861	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	NUP93_uc002ekb.3_Silent_p.F457F|NUP93_uc010vhi.2_Silent_p.F457F	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	580					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCCACAGTTCGATATGATTC	0.338000														27			4		0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99947440	99947440	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:99947440C>T	uc001vog.3	-	1	1134	c.960G>A	c.(958-960)atG>atA	p.M320I	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR183_uc021rma.1_Missense_Mutation_p.M320I	NM_004951	NP_004942	P32249	GP183_HUMAN	Homo sapiens G protein-coupled receptor 183 (GPR183), mRNA.	320					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TCAGCATCCTCATAACCTTTC	0.408000														50			17		0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151909177	151909177	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151909177A>C	uc004fge.3	+	4	534	c.206A>C	c.(205-207)aAg>aCg	p.K69T	CSAG1_uc004fgf.3_Missense_Mutation_p.K69T|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	69										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCGTCAAGGAAGTTCCA	0.542000														70			19		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059200	248059200	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248059200C>T	uc010pzb.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F	OR2W3_uc001idp.1_Silent_p.F104F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L103L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTTCCTGTTCCTGGGTCTGG	0.552000														67			15		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	T	T	rs148654261		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:91769874C>T	uc002bqv.3	+	2	1272	c.381C>T	c.(379-381)ttC>ttT	p.F127F	SV2B_uc002bqt.3_Silent_p.F127F|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	127					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512000														53			4		0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34395661	34395661	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:34395661C>T	uc001zho.3	+	0	1388	c.929C>T	c.(928-930)tCa>tTa	p.S310L	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	310										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GGCCTGAAATCATCACGCATT	0.418000														50			13		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027958	92027958	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92027958C>T	uc003ulw.2	+	19	3341	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S	ANKIB1_uc010lew.1_Missense_Mutation_p.P258S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	989							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCCCTGATTCCTCCAGCAAC	0.498000														86			5		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127729023	127729023	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:127729023C>T	uc003kuu.3	-	9	1709	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R	FBN2_uc003kuv.2_Missense_Mutation_p.G391R	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	424					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAATTCCTCCCATTGGAAGT	0.502000														50			4		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8990110	8990110	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:8990110G>A	uc001quz.4	+	7	901	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	112						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TACTGGTATCGAGAGGTGGAA	0.493000														56			7		0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118081291	118081291	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:118081291C>T	uc001psk.2	-	3	509	c.335G>A	c.(334-336)gGa>gAa	p.G112E	AMICA1_uc001psh.2_Missense_Mutation_p.G73E|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.G102E|AMICA1_uc010rxw.1_Missense_Mutation_p.G73E|AMICA1_uc010rxx.1_Missense_Mutation_p.G112E|AMICA1_uc001psl.1_Missense_Mutation_p.G68E	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	112	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		GATATAGGTTCCCTGGTCAGC	0.537000														93			7		0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129825186	129825186	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:129825186G>A	uc003vpn.2	-	6	920	c.797C>T	c.(796-798)cCt>cTt	p.P266L	TMEM209_uc010lmc.1_Missense_Mutation_p.P266L	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	266						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ACTGCTGGAAGGAGAGGTAGA	0.413000														163			13		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41664932	41664932	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:41664932G>A	uc003gvz.4	+	19	3639	c.3222G>A	c.(3220-3222)tcG>tcA	p.S1074S	LIMCH1_uc003gwe.4_Silent_p.S689S|LIMCH1_uc003gvu.4_Silent_p.S689S|LIMCH1_uc003gvv.4_Silent_p.S689S|LIMCH1_uc003gvw.4_Silent_p.S689S|LIMCH1_uc003gvx.4_Silent_p.S677S|LIMCH1_uc003gvy.4_Silent_p.S518S|LIMCH1_uc003gwa.4_Silent_p.S530S|LIMCH1_uc011byu.2_Silent_p.S523S|LIMCH1_uc003gwc.4_Silent_p.S535S|LIMCH1_uc003gwd.4_Silent_p.S523S|LIMCH1_uc011byv.2_Silent_p.S440S|LIMCH1_uc011byw.2_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	689	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding	p.R1073*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATGATGTGTCGGAAGAAAAAG	0.478000														38			9		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891670	132891670	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132891670C>T	uc011eck.2	+	0	210	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	70						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CCAATTTTCTCGTTGCCTCTC	0.522000														71			9		0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56540661	56540661	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56540661G>A	uc002iwi.1	-	3	1148	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCATTGAAGGATTCTGGGAA	0.353000														61			5		0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14303158	14303159	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:14303158_14303159GG>AA	uc001mlf.4	-	4	830_831	c.516_517CC>TT	c.(514-519)gtccgg>gtTTgg	p.R173W	RRAS2_uc021qec.1_Missense_Mutation_p.R96W|RRAS2_uc009ygq.3_Missense_Mutation_p.R96W|RRAS2_uc010rco.2_Missense_Mutation_p.R179W|RRAS2_uc021qed.1_Missense_Mutation_p.R138W	NM_012250	NP_001170786	P62070	RRAS2_HUMAN	Homo sapiens related RAS viral (r-ras) oncogene homolog 2 (RRAS2), transcript variant 1, mRNA.	173						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		CTGATAACCCGGACAAGTTCAT	0.351000														60			11		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071878	73071878	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73071878C>T	uc004ebm.1	-	0		c.711G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ATCCGCGGCCCCGATGGGCCA	0.443000														14			5		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38525476	38525476	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:38525476A>C	uc003auy.1	-	7	1307	c.1171T>G	c.(1171-1173)Tcc>Gcc	p.S391A	PLA2G6_uc003auz.1_Missense_Mutation_p.S391A|PLA2G6_uc003ava.1_Missense_Mutation_p.S391A|PLA2G6_uc003avb.2_Missense_Mutation_p.S391A|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.S356A	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	391					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCGATTTTGGAGGCTAGGAAT	0.567000														53			7		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563268	129563268	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:129563268G>A	uc009zyl.1	-	7	2254	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	TMEM132D_uc001uia.2_Silent_p.I180I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	642						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAGGAGACAGGATCTGGAGGG	0.587000														53			9		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170042421	170042421	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:170042421T>G	uc002ues.3	-	49	9650	c.9437A>C	c.(9436-9438)gAc>gCc	p.D3146A		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3146	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTCCGCTTGTCAGACATGAG	0.458000														60			4		0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461105	119461105	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:119461105G>A	uc022bmo.1	+	0	1084	c.1084G>A	c.(1084-1086)Ggg>Agg	p.G362R	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.G362R|TRIM32_uc004bjx.2_Missense_Mutation_p.G362R	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	362					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CAAGAAGATGGGGGCCAAAGG	0.547000														48			18		0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274818	80274818	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:80274818C>T	uc002kel.1	-	1	231	c.122G>A	c.(121-123)gGa>gAa	p.G41E	CD7_uc010din.3_Missense_Mutation_p.G41E|CD7_uc010wvk.1_Missense_Mutation_p.G41E	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	41	Ig-like.				T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GACGGAGGCTCCCACGGGGAC	0.627000														38			11		0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56104194	56104195	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56104194_56104195GG>AA	uc002qli.4	-	2	1202_1203	c.1112_1113CC>TT	c.(1111-1113)gcc>gTT	p.A371V	FIZ1_uc002qlj.4_Missense_Mutation_p.A371V	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCTCCAAGGCGGCCAGCGCCGC	0.767000														18			5		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81283924	81283924	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:81283924G>A	uc010ijp.3	+	1	177	c.128G>A	c.(127-129)cGc>cAc	p.R43H	C4orf22_uc003hmf.3_Missense_Mutation_p.R43H	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	43								p.R43S(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACCCTGGCCCGCCAGTTGGTG	0.443000														106			18		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45108503	45108503	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:45108503C>T	uc010skz.1	-	10	1291	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	NELL2_uc001rof.3_Missense_Mutation_p.R338Q|NELL2_uc001rog.2_Missense_Mutation_p.R339Q|NELL2_uc001roh.2_Missense_Mutation_p.R339Q|NELL2_uc009zkd.2_Missense_Mutation_p.R338Q|NELL2_uc010sla.1_Missense_Mutation_p.R362Q|NELL2_uc001roi.1_Missense_Mutation_p.R339Q|NELL2_uc010slb.1_Missense_Mutation_p.R338Q|NELL2_uc001roj.2_Missense_Mutation_p.R339Q	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	339	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			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)		AAAGTAGGTTCGTCCTTGAAA	0.348000														34			3		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48393798	48393798	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48393798C>T	uc001rqu.3	-	1	377	c.196G>A	c.(196-198)Gac>Aac	p.D66N	COL2A1_uc001rqv.3_Intron	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	66	VWFC.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGATTATGTCGTCGCAGAGG	0.572000														46			16		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345656	92345656	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:92345656C>T	uc010tif.2	+	2	907	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	181						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)				CCTCATTAACCCTGGTGTGAC	0.443000														93			15		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974243	16974243	+	RNA	SNP	G	C	C	rs142213352	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16974243G>C	uc009vow.2	+	4		c.1053G>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GATCTCAGCTGTCGCTCGGGG	0.652000														55			3		0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951418	130951418	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:130951418C>T	uc002tqv.3	-	3	1098	c.997G>A	c.(997-999)Gcc>Acc	p.A333T		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	333					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTGATGGTGGCGATGGCCGCA	0.547000														91			11		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34055265	34055265	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:34055265C>T	uc021wco.1	+	8	1383	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript|CEP250_uc002xco.3_Silent_p.L53L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	246	Poly-Leu.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCGGCCCAGCTGCTGCTGCT	0.572000														113			14		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640765	21640765	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21640765T>C	uc003svc.3	+	16	3424	c.3393T>C	c.(3391-3393)ttT>ttC	p.F1131F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1131	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						GCTGGATGTTTCAGGAGCATC	0.348000									Kartagener syndrome					41			7		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134034310	134034310	+	Silent	SNP	C	T	T	rs148528207		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:134034310C>T	uc003ytw.3	+	39	6992	c.6951C>T	c.(6949-6951)atC>atT	p.I2317I	TG_uc010mdw.3_Silent_p.I1076I|TG_uc011ljb.2_Silent_p.I686I|TG_uc011ljc.2_Silent_p.I450I	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2317					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCCGGCTATCGACGGCTCCT	0.577000														79			20		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705811	30705811	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:30705811G>A	uc003xil.3	-	0	723	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	241										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCAGGTCAGCGAAGTTTTTCA	0.333000														47			11		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34150116	34150116	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:34150116G>A	uc001zhi.3	+	99	14212	c.14142_splice	c.e99+1	p.T4714_splice	RYR3_uc010bar.3_Splice_Site_p.T4709_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4714					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGATGACGGTGAGAGCCCA	0.582000														25			8		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579026	55579026	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55579026C>T	uc001nhw.1	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28F(2)|p.L27I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTGCCTCTTCCTGCTGTTCC	0.488000														168			12		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404500	9404500	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9404500C>T	uc021wam.1	+	23	2404	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	PLCB4_uc010gbw.1_Nonsense_Mutation_p.R797*|PLCB4_uc010gbx.3_Nonsense_Mutation_p.R809*|PLCB4_uc021wal.1_Nonsense_Mutation_p.R797*|PLCB4_uc002wnh.3_Nonsense_Mutation_p.R644*	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	797					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						AGCCGGATATCGACACATTTC	0.448000														29			8		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918217	51918217	+	Silent	SNP	G	A	A	rs141026130		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51918217G>A	uc002pwo.3	-	7	1698	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	SIGLEC10_uc002pwp.3_Silent_p.F434F|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	492					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGTGACCTCGAAGGAGTCCT	0.701000														51			8		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118308	120118308	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:120118308G>A	uc003yoo.3	+	5	809	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	238	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAATGAGGGGGAACCCAGCGA	0.502000														48			11		0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31188869	31188869	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:31188869G>A	uc001brz.3	-	4	1128	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	LOC100129196_uc001bsb.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA.	365	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTGAAGGAATTGTCAAT	0.542000														124			7		0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49913016	49913016	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49913016G>A	uc002pnm.2	+	14	1358	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	CCDC155_uc010emx.2_Splice_Site_p.E356_splice	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	385						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCAGAAACAGGAAGTGGCAAC	0.488000														38			13		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347148	57347148	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57347148G>A	uc001cyo.2	+	4	627	c.495G>A	c.(493-495)caG>caA	p.Q165Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	165	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAGATGCTCAGAGTGTGTACG	0.478000														131			20		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30066847	30066847	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:30066847G>A	uc001wqh.3	-	15	2465	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	762	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTAGAGAGCGATTGTAGCCC	0.493000														82			16		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158242619	158242619	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:158242619C>T	uc003ipm.4	+	5	1209	c.750C>T	c.(748-750)atC>atT	p.I250I	GRIA2_uc011cit.2_Silent_p.I203I|GRIA2_uc021xtr.1_Silent_p.I250I|GRIA2_uc003ipl.4_Silent_p.I250I|GRIA2_uc003ipk.4_Silent_p.I203I|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.	250					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)	TATTAAAAATCCAGTTTGGAG	0.333000														99			6		0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232325244	232325244	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:232325244C>T	uc002vru.3	-	4	984	c.843G>A	c.(841-843)aaG>aaA	p.K281K	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	281					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCATTTCCTTCTTTCGTTTTC	0.428000														113			13		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211055	59211055	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:59211055C>T	uc001nnx.1	+	0	414	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACCCCACTATCATGACCCAGG	0.542000														226			44		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60912735	60912735	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60912735C>T	uc002ycq.3	-	15	2142	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	LAMA5_uc021wfw.1_Missense_Mutation_p.R692Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	692	Laminin EGF-like 8.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCCACTCCGGGGGTCACA	0.662000														58			5		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230253056	230253056	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:230253056C>T	uc002vpv.3	-	10	1927	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	594	EGF-like 10; calcium-binding (Potential).				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			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)		AGGCAGCTCCCACCATGGTGG	0.522000														143			10		0	0	1	0	0
MARCH3	115123	broad.mit.edu	37	5	126250785	126250785	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:126250785C>T	uc003kuf.3	-	2	685	c.230G>A	c.(229-231)gGc>gAc	p.G77D	MARCH3_uc011cxc.1_Missense_Mutation_p.G77D	NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 3 (MARCH3), mRNA.	77					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		TTGGCTGCTGCCCTCGTGGCA	0.582000														30			8		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081946	152081946	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152081946C>T	uc009wne.1	-	2	4019	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	TCHH_uc001ezp.2_Silent_p.Q1249Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1249					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCCGGAACTGTTCATTCT	0.498000														76			9		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487836	24487836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:24487836C>T	uc003jgr.2	-	11	2809	c.2303G>A	c.(2302-2304)tGg>tAg	p.W768*	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	768					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCGAGGGCCCCATTCTCGGAG	0.408000										HNSCC(23;0.051)				81			5		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133073651	133073651	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:133073651C>T	uc003qdt.3	-	3	786	c.775G>A	c.(775-777)Gga>Aga	p.G259R	VNN2_uc003qds.3_Intron|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.G206R	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	259	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGATTAACTCCCATTCCCATT	0.413000														91			5		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058484	56058484	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56058484C>T	uc010rje.2	-	0	55	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TCTTCAGAATCTGACAGTCCC	0.398000														80			13		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307474	37307474	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:37307474A>G	uc001caz.2	-	9	1528	c.1393T>C	c.(1393-1395)Tac>Cac	p.Y465H	GRIK3_uc001cba.1_Missense_Mutation_p.Y465H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	465					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCGATGCAGTAGCCCTCGAAC	0.572000														135			41		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33475395	33475395	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:33475395G>A	uc001iwx.4	-	13	2607	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	NRP1_uc001iwv.4_Missense_Mutation_p.S695F|NRP1_uc001iwy.4_Missense_Mutation_p.S688F|NRP1_uc009xlz.3_Missense_Mutation_p.S689F|NRP1_uc001iww.4_Missense_Mutation_p.S507F	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	695	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTCAGCTTGGGAATAGATGAA	0.478000														87			9		0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716851	74716851	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74716851C>T	uc001ovw.3	+	2	856	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	NEU3_uc001ovv.3_Silent_p.L224L|NEU3_uc010rrl.2_Silent_p.L125L	NM_006656	NP_006647	A8K327	A8K327_HUMAN	Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA.	234										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCCTCATTCTCTGATGATCTA	0.507000														75			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666930	179666930	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179666930C>T	uc021vsy.1	-	2	455	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TTN_uc021vsz.1_Missense_Mutation_p.R77Q|TTN_uc021vta.1_Missense_Mutation_p.R77Q|TTN_uc021vtb.1_Missense_Mutation_p.R77Q|TTN_uc002unb.2_Missense_Mutation_p.R77Q|TTN_uc002und.3_Missense_Mutation_p.R77Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	77	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R77R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGGAATATCGTCCACTGTT	0.562000														104			15		0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323229	57323229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57323229C>T	uc010sqw.2	-	2	813	c.669G>A	c.(667-669)tgG>tgA	p.W223*		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	223						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GCAGCCTCTCCCAAAGCTTTC	0.567000														78			16		0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163483254	163483254	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:163483254C>T	uc003qua.3	+	3	588	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	PACRG_uc003qub.3_Missense_Mutation_p.P122S|PACRG_uc003quc.3_Missense_Mutation_p.P122S	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	122										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AATGACATTTCCCTATGAGTT	0.428000														50			8		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90435980	90435980	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:90435980G>A	uc001kfg.2	+	8	1017	c.903G>A	c.(901-903)ggG>ggA	p.G301G	LIPF_uc001kfh.2_Silent_p.G278G|LIPF_uc010qmt.2_Silent_p.G311G|LIPF_uc010qmu.2_Silent_p.G268G	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	301					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)		TTAAGTCTGGGAAATTCCAAG	0.308000														29			4		0	0	1	0	0
CDHR4	389118	broad.mit.edu	37	3	49836761	49836761	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:49836761C>T	uc010hkz.3	-	1	168	c.159G>A	c.(157-159)ctG>ctA	p.L53L	CDHR4_uc003cxp.2_Silent_p.L53L|CDHR4_uc011bcw.2_Silent_p.L53L	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	53					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TGAGCAACTCCAGGGTGGGTG	0.567000														13			3		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840191	150840191	+	Silent	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150840191T>A	uc004fev.4	+	12	1709	c.1377T>A	c.(1375-1377)tcT>tcA	p.S459S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	459						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGTTTATCTTTATCCAACT	0.488000														52			23		0	0	1	0	0
MT4	84560	broad.mit.edu	37	16	56599043	56599044	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:56599043_56599044GG>AA	uc002eje.1	+	0	83_84	c.3_4GG>AA	c.(1-6)atggac>atAAac	p.1_2MD>IN		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	1						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						CCTGGACCATGGACCCCAGGGA	0.599000														69			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209348	140209348	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140209348G>A	uc003lho.2	+	0	1699	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.E558K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	572	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)			CGTGCTGGACGAGAACGACAA	0.687000														126			8		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170858236	170858236	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:170858236C>T	uc003fhh.2	-	12	1629	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	TNIK_uc003fhi.2_Silent_p.E428E|TNIK_uc003fhj.2_Silent_p.E428E|TNIK_uc003fhk.2_Silent_p.E428E|TNIK_uc003fhl.2_Silent_p.E428E|TNIK_uc003fhm.2_Silent_p.E428E|TNIK_uc003fhn.2_Silent_p.E428E|TNIK_uc003fho.2_Silent_p.E428E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	428	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCATCTGCTCCTCATAGTGCC	0.647000														222			31		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180763	142180763	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142180763C>T	uc011krz.2	-	1	145	c.96G>A	c.(94-96)ctG>ctA	p.L32L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.L32L|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GTCCTGTCTTCAGGACCTGGA	0.542000														258			15		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43576027C>T	uc002ovr.3	-	3	961	c.789G>A	c.(787-789)gcG>gcA	p.A263A	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(2)|p.A263V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443000														176			28		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116694	28116694	+	Silent	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:28116694A>C	uc001rik.3	-	2	414	c.111T>G	c.(109-111)gcT>gcG	p.A37A	PTHLH_uc001ril.3_Silent_p.A37A|PTHLH_uc001rim.3_Silent_p.A37A|PTHLH_uc001rin.3_Silent_p.A37A	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	37					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	p.R36T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTTCAGACACAGCTCTTTTGC	0.403000														108			10		0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245545	73245545	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:73245545G>A	uc003tzi.4	+	0	353	c.14G>A	c.(13-15)gGg>gAg	p.G5E	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	5					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GCCTCCATGGGGCTACAGGTA	0.672000														81			5		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117222528	117222528	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:117222528T>C	uc001prc.3	+	4	364	c.217T>C	c.(217-219)Tac>Cac	p.Y73H	CEP164_uc001prb.3_Missense_Mutation_p.Y73H|CEP164_uc001prd.2_Missense_Mutation_p.Y73H|CEP164_uc010rxj.1_Missense_Mutation_p.Y27H|CEP164_uc010rxk.1_Missense_Mutation_p.Y73H	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	73	Interaction with ATRIP.|WW.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGTGACATTTACTATTTCAA	0.463000														82			17		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89939544	89939544	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:89939544C>T	uc010lep.3	+	22	3069	c.2818C>T	c.(2818-2820)Cct>Tct	p.P940S	C7orf63_uc011khj.2_Missense_Mutation_p.P922S|C7orf63_uc011khk.2_Missense_Mutation_p.P456S	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	940							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAAGAGTATTCCTACGTAATA	0.323000														29			13		0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88265139	88265139	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:88265139C>T	uc003pme.3	-	4	442	c.382G>A	c.(382-384)Gtg>Atg	p.V128M	RARS2_uc003pmc.3_5'UTR|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	128					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AATTCAACCACAATCTTCTTC	0.388000														33			5		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38904465	38904465	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38904465C>T	uc003jln.2	+	8	1547	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	382	Fibronectin type-III 1.				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)					TACAATGTTTCCATCAAGGTG	0.438000														24			4		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332367	70332367	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:70332367G>A	uc001oqc.3	-	20	3945	c.3833C>T	c.(3832-3834)tCg>tTg	p.S1278L	SHANK2_uc010rqn.2_Missense_Mutation_p.S754L|SHANK2_uc001opz.3_Missense_Mutation_p.S749L|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.	965					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.S1345*(1)|p.S749*(1)		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)			CTCGGACGGCGAGCTGTCTGG	0.632000														59			7		0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135354	33135354	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:33135354G>A	uc002ntn.1	-	4	558	c.402C>T	c.(400-402)tcC>tcT	p.S134S	ANKRD27_uc002nto.1_Silent_p.S134S	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	134					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGTTTTCAGGGAAAAGGGAT	0.493000														369			21		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158236	139158236	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:139158236C>T	uc003yuy.3	-	14	3677	c.3506G>A	c.(3505-3507)gGa>gAa	p.G1169E	FAM135B_uc003yux.3_Missense_Mutation_p.G1070E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G731E|FAM135B_uc003yvb.3_Silent_p.R696R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1169										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCAGTTTTCCTCCAGGGAG	0.453000										HNSCC(54;0.14)				49			13		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472340	2472340	+	Silent	SNP	C	T	T	rs150285273		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2472340C>T	uc003smc.3	+	1	229	c.66C>T	c.(64-66)atC>atT	p.I22I	CHST12_uc003smd.3_Silent_p.I22I|CHST12_uc021zyu.1_Silent_p.I22I|CHST12_uc021zyv.1_Silent_p.I22I	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	22					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TCCTGCTGATCATCGTGTACT	0.701000														74			14		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123683804	123683804	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123683804A>C	uc001lfp.3	-	1	229	c.147T>G	c.(145-147)gaT>gaG	p.D49E	ATE1_uc001lfq.3_Missense_Mutation_p.D49E|ATE1_uc010qtr.2_5'UTR|ATE1_uc010qts.2_Intron|ATE1_uc010qtt.2_Missense_Mutation_p.D42E|ATE1_uc001lfr.3_5'UTR|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	49					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGTCTATGAGATCCTGATAAT	0.388000														95			8		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813592	24813592	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:24813592C>T	uc001iru.4	+	12	3200	c.2797C>T	c.(2797-2799)Ccg>Tcg	p.P933S	KIAA1217_uc001irs.3_Missense_Mutation_p.P853S|KIAA1217_uc001irt.4_Missense_Mutation_p.P898S|KIAA1217_uc010qcy.2_Missense_Mutation_p.P898S|KIAA1217_uc010qcz.2_Missense_Mutation_p.P898S|KIAA1217_uc001irv.1_Missense_Mutation_p.P748S|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.P616S|KIAA1217_uc001irz.3_Missense_Mutation_p.P616S|KIAA1217_uc001irx.3_Missense_Mutation_p.P616S|KIAA1217_uc001iry.3_Missense_Mutation_p.P616S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	933					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						GTCGCAGGCTCCGCAGTCCCC	0.582000														33			7		0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271330	26271330	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:26271330C>T	uc003nhi.3	-	0	283	c.283G>A	c.(283-285)Gag>Aag	p.E95K	BC079832_uc003nhj.3_5'Flank|HIST1H2BI_uc003nhk.3_5'Flank	NM_003534	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3g (HIST1H3G), mRNA.	95					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TCGCAGGCCTCCTGCAGGGCC	0.567000														141			9		0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86180999	86180999	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:86180999G>A	uc003pko.4	+	2	1163	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	NT5E_uc003pkn.3_Missense_Mutation_p.E203K|NT5E_uc010kbr.3_Missense_Mutation_p.E203K	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	203					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ATTACAACCTGAAGTAGATAA	0.299000														29			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140189034	140189034	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140189034G>A	uc003lhi.2	+	0	2363	c.2262G>A	c.(2260-2262)agG>agA	p.R754R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.R754R|PCDHAC2_uc011daa.2_Silent_p.R754R	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	791					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)			CGCAGCAGAGGAGGCCGAGGG	0.657000														72			6		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127844	56127844	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56127844G>A	uc010rjh.2	+	0	154	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACCATGGCAGGGAACCTGGGC	0.493000														99			11		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73713655	73713655	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:73713655G>A	uc011dyh.2	+	1	770	c.423G>A	c.(421-423)ttG>ttA	p.L141L	KCNQ5_uc003pgj.4_Silent_p.L141L|KCNQ5_uc011dyi.2_Silent_p.L141L|KCNQ5_uc010kat.3_Silent_p.L141L|KCNQ5_uc003pgk.3_Silent_p.L141L|KCNQ5_uc011dyj.2_Silent_p.L141L|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	141					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)		TTGGTTGCTTGATTTTGTCAG	0.363000														47			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766195	13766195	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13766195G>A	uc003jfd.2	-	58	10033	c.9991C>T	c.(9991-9993)Caa>Taa	p.Q3331*	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3331	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTTCCTTTGAAACAGCAGC	0.517000									Kartagener syndrome					123			9		0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34145358	34145358	+	Silent	SNP	C	T	T	rs139800295		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:34145358C>T	uc001mvk.3	+	9	1208	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	NAT10_uc010ren.2_Silent_p.L250L	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	322						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTCCATACTCTGTTTGAATT	0.353000														69			4		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205363	81205363	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81205363C>T	uc001szj.1	-	4	776	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	195					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCCTCCATTTCTTCCAGAACT	0.512000														32			5		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2841187	2841187	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2841187C>T	uc002whe.3	+	4	510	c.462C>T	c.(460-462)acC>acT	p.T154T	VPS16_uc002whf.3_Silent_p.T154T|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	154					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome		p.F153F(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ACCGCTTCACCCTCAGTGCCA	0.592000														45			5		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139796362	139796362	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139796362C>T	uc003vvm.3	-	16	2371	c.2367G>A	c.(2365-2367)gtG>gtA	p.V789V	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	789					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TACCACATTCCACTGGTTTAT	0.403000														77			5		0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863813	192863813	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:192863813C>T	uc002utc.3	-	5	1052	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	220	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GACATGACTTCAATTTTCTCC	0.358000														67			14		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823361	3823361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3823361C>T	uc002lyw.2	-	7	1266	c.1254G>A	c.(1252-1254)tgG>tgA	p.W418*	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	418						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CTGGTTTCCCCCACTGGGGTC	0.612000														61			7		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63316527	63316527	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:63316527G>A	uc001xfx.3	-	7	1464	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	KCNH5_uc001xfy.3_Silent_p.F471F|KCNH5_uc001xfz.1_Silent_p.F413F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	471					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATTTGCTGGAAAATTGTTG	0.348000														50			9		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98348911	98348911	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:98348911G>A	uc001drv.3	-	1	196	c.59C>T	c.(58-60)cCt>cTt	p.P20L	DPYD_uc010oub.1_Intron|DPYD_uc001drw.3_Missense_Mutation_p.P20L	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	20					'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)	TTGTGTTCGAGGATTTAAAGC	0.318000														42			5		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704252	117704252	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:117704252C>T	uc001lcg.3	+	28	4488	c.4102C>T	c.(4102-4104)Cga>Tga	p.R1368*	ATRNL1_uc010qsm.2_Nonsense_Mutation_p.R497*|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1368						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)		AGTCCGGAATCGAAAACACCT	0.413000														77			14		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62984929	62984929	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:62984929G>A	uc001nwr.1	-	3	687	c.687C>T	c.(685-687)ttC>ttT	p.F229F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.F229F	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	229					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCATGGCACAGAATTGGTGAG	0.423000														47			9		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	12990024	12990024	+	Missense_Mutation	SNP	G	A	A	rs112329671	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:12990024G>A	uc002wod.1	+	0	398	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SPTLC3_uc002woc.3_Missense_Mutation_p.E37K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	37					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AATAGTGAAGGAAGCCCAGGT	0.443000														46			7		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609544	108609544	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:108609544G>A	uc002tdv.3	+	3	685	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.G137R|SLC5A7_uc010ywn.2_Missense_Mutation_p.G24R	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	137					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGCACTGATGGGAGAAATGTT	0.438000														44			7		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173442	54173442	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54173442G>A	uc003pcj.2	+	0	240	c.94G>A	c.(94-96)Gag>Aag	p.E32K	TINAG_uc003pci.3_Missense_Mutation_p.E32K|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	32					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.E32A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGTGGACCTAGAGGCTTATTT	0.393000														89			15		0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925402	218925402	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:218925402C>T	uc002vgx.3	-	0	612	c.319G>A	c.(319-321)Gga>Aga	p.G107R	RUFY4_uc002vgw.3_Intron					Homo sapiens chemokine (C-X-C motif) receptor 2 pseudogene 1 (CXCR2P1), non-coding RNA.																		CCACATGGTCCAGTGCTTCTG	0.557000														70			6		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577548	9577548	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9577548G>A	uc002mlp.1	-	9	2285	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F	ZNF560_uc010dwr.1_Missense_Mutation_p.S586F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	692					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						ATTTCGAAAGGAATTTCCACA	0.378000														127			25		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100192761	100192761	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100192761G>A	uc011kjz.1	+	6	1171	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	FBXO24_uc003uvl.1_Intron|FBXO24_uc003uvm.1_Missense_Mutation_p.G330E|FBXO24_uc003uvn.1_Missense_Mutation_p.G25E|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.G318E|LOC100129845_uc022air.1_Intron	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	330						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CATACCCCAGGGGTGTATCGC	0.602000														74			21		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408988	130408988	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130408988C>T	uc004ewe.4	-	16	3755	c.3472G>A	c.(3472-3474)Gag>Aag	p.E1158K	IGSF1_uc004ewd.3_Missense_Mutation_p.E1153K|IGSF1_uc022cdv.1_Missense_Mutation_p.E1144K|IGSF1_uc004ewf.2_Missense_Mutation_p.E1133K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1153					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						ACCCAGATCTCCAGGGAGTCA	0.453000														148			28		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55340886	55340886	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55340886C>T	uc021vbm.1	+	6	1104	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010esf.3_Silent_p.F262F|KIR3DL2_uc021vbo.1_Silent_p.F340F|KIR3DL2_uc002qhk.4_Silent_p.F357F|KIR3DL2_uc002qhl.4_Intron	NM_013289	NP_037421	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	357					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.L356F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tcctcctcttctttctccttc	0.527000														72			16		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13621514	13621514	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:13621514C>T	uc004cvj.3	+	4	766	c.479C>T	c.(478-480)tCc>tTc	p.S160F	EGFL6_uc004cvi.3_Missense_Mutation_p.S160F|EGFL6_uc011mik.1_Missense_Mutation_p.S61F	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	160	EGF-like 3.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CTGTGTCCATCCTCAGGACTC	0.498000														28			8		0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100934521	100934521	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:100934521C>T	uc001tht.2	+	6	1061	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	NR1H4_uc001thq.2_Missense_Mutation_p.R335C|NR1H4_uc001thp.2_Missense_Mutation_p.R331C|NR1H4_uc001thr.2_Missense_Mutation_p.R335C|NR1H4_uc010svk.2_Missense_Mutation_p.R284C|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.R341C	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	345	Agonist binding (By similarity).|Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATGTTCCTTCGTTCAGCTGA	0.388000														88			12		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19644485	19644485	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19644485C>T	uc002dgn.2	+	18	1941	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S	C16orf62_uc002dgo.2_Silent_p.S564S|C16orf62_uc002dgp.2_Silent_p.S291S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	542						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTGAAGATTCCTACCCCCAGG	0.408000														130			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38939420	38939420	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:38939420C>T	uc002oit.3	+	10	1219	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P	RYR1_uc002oiu.3_Silent_p.P363P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	363	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCAGACCCCAAGGCCCTGC	0.612000														39			9		0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117628210	117628210	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:117628210C>T	uc001twk.3	-	0	91	c.52G>A	c.(52-54)Gag>Aag	p.E18K	FBXO21_uc001twj.3_Missense_Mutation_p.E18K|FBXO21_uc009zwq.3_Missense_Mutation_p.E18K	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	18					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		gcggcctcctccgccagcgcc	0.741000														7			3		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414932	21414932	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:21414932G>A	uc001iqm.3	-	1	339	c.288C>T	c.(286-288)ttC>ttT	p.F96F	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	96										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TGTAGAGACTGAAGCTGACTC	0.607000														54			10		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51198102	51198102	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:51198102G>A	uc011bds.2	+	11	1029	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	336						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGAAGTAAAGGAAGAAAAGGA	0.443000														11			3		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702223	179702223	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179702223G>A	uc002une.2	-	22	3841	c.3723C>T	c.(3721-3723)tcC>tcT	p.S1241S	CCDC141_uc002unf.1_Silent_p.S720S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	666							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)			GAAGGCTGAGGGAGGAGCTGA	0.587000														39			7		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209533	50209533	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50209533G>A	uc010eng.3	+	11	1522	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	CPT1C_uc002ppl.4_Silent_p.A368A|CPT1C_uc002ppi.3_Silent_p.A319A|CPT1C_uc002ppk.3_Silent_p.A391A|CPT1C_uc010enh.3_Silent_p.A402A|CPT1C_uc002ppj.3_Silent_p.A402A|CPT1C_uc010ybc.1_Silent_p.A273A|CPT1C_uc010eni.1_Silent_p.A59A	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	402					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCAGGCAGCGGAGGCCCTGG	0.701000														14			5		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104048347	104048347	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:104048347G>A	uc001tjw.3	+	12	1608	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	474	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATCAAATAAAGCTTAAACTCC	0.408000														40			6		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150389	34150389	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:34150389C>T	uc004ddg.3	-	0	59	c.7G>A	c.(7-9)Gac>Aac	p.D3N		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	3										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						AGCCTCTGGTCCCCCATGGTG	0.642000														25			11		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271659	164271659	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:164271659C>T	uc003iqn.3	+	3	416	c.234C>T	c.(232-234)ttC>ttT	p.F78F	NPY5R_uc021xtw.1_Silent_p.F78F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	78					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CGGTAAACTTCCTCATAGGCA	0.413000														166			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452073	179452073	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179452073G>A	uc021vsy.1	-	255	56386	c.56161C>T	c.(56161-56163)Cct>Tct	p.P18721S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P12416S|TTN_uc021vta.1_Missense_Mutation_p.P12349S|TTN_uc021vtb.1_Missense_Mutation_p.P12224S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19648	Fibronectin type-III 35.						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)			TTTTCAGGAGGGGCCCAGGAC	0.448000														25			9		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372732	175372732	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175372732G>A	uc001gkp.1	-	1	601	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	TNR_uc009wwu.1_Missense_Mutation_p.H174Y|TNR_uc010pmz.1_Missense_Mutation_p.H174Y	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	174	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.H174Q(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)					CCACTGCAGTGAGGGATATAG	0.562000														58			12		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133051	119133051	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119133051C>T	uc003ecj.4	+	11	2807	c.2275C>T	c.(2275-2277)Cct>Tct	p.P759S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	759	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAAATAGTTCCTTTTGAGAA	0.602000														75			22		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536468	1536468	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:1536468G>A	uc010uvf.2	-	2	894	c.894C>T	c.(892-894)gtC>gtT	p.V298V		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	303	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGGCCGTGCGGACCCAGCTGC	0.662000														66			4		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168927049	168927049	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:168927049A>G	uc003qwr.2	+	2	500	c.280A>G	c.(280-282)Agg>Ggg	p.R94G	SMOC2_uc003qws.2_Missense_Mutation_p.R94G	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	94	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TGTGGCCGAAAGGAAGTATAC	0.502000														61			9		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459285	92459285	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:92459285C>T	uc002bqx.2	+	1	444	c.243C>T	c.(241-243)atC>atT	p.I81I	SLCO3A1_uc002bqy.2_Silent_p.I81I|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.I23I	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	81					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGGGTGTGATCGCTAGCAGCT	0.642000														104			13		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220497036	220497036	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220497036G>A	uc002vmo.4	+	7	1303	c.1094G>A	c.(1093-1095)tGg>tAg	p.W365*	SLC4A3_uc002vmp.4_Nonsense_Mutation_p.W338*|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	338					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCCCCACTGGCGGGAGACG	0.667000														58			4		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037498	75037498	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75037498T>A	uc001dgg.3	-	13	4115	c.3896A>T	c.(3895-3897)gAc>gTc	p.D1299V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1299	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						GCACTCTTTGTCCTCTTCCTC	0.537000														189			10		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2074804	2074804	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2074804G>A	uc001qjx.1	-	4	522	c.442C>T	c.(442-444)Cca>Tca	p.P148S	DCP1B_uc010sdy.1_Missense_Mutation_p.P46S	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	148					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGATCACTGGGGAAATTCCT	0.438000														35			4		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3738603	3738603	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3738603C>T	uc010xhv.2	+	10	1434	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	TJP3_uc010xhs.2_Silent_p.F445F|TJP3_uc010xht.2_Silent_p.F409F|TJP3_uc010xhu.2_Silent_p.F454F|TJP3_uc010xhw.2_Silent_p.F464F	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	459						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)		CAGTGCAGTTCCTGCTGGGGC	0.592000														94			20		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968151	69968151	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:69968151C>T	uc001suy.3	+	9	1453	c.943C>T	c.(943-945)Cct>Tct	p.P315S	FRS2_uc001suz.3_Missense_Mutation_p.P315S|FRS2_uc009zrj.3_Missense_Mutation_p.P315S|FRS2_uc009zrk.3_Missense_Mutation_p.P315S	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	315					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTATCTATCCCTAGTGCCTC	0.433000														80			9		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222181	131222181	+	Missense_Mutation	SNP	C	T	T	rs146731749		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:131222181C>T	uc003qch.2	-	6	1251	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	EPB41L2_uc010kfl.2_Missense_Mutation_p.D357N|EPB41L2_uc003qcg.1_Missense_Mutation_p.D357N|EPB41L2_uc003qci.3_Missense_Mutation_p.D357N|EPB41L2_uc011eby.2_Missense_Mutation_p.D357N|EPB41L2_uc010kfk.2_Missense_Mutation_p.D357N	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	357	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCACTGAGGTCGATGCTGCCA	0.542000														138			13		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179605011	179605011	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:179605011G>A	uc010pnp.2	+	8	2027	c.1509G>A	c.(1507-1509)atG>atA	p.M503I	TDRD5_uc021pfm.1_Missense_Mutation_p.M503I|TDRD5_uc001gnf.2_Missense_Mutation_p.M503I|TDRD5_uc021pfn.1_Missense_Mutation_p.M503I|TDRD5_uc001gnh.2_Missense_Mutation_p.M58I	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	503					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAGACATGATGATTGAAATGC	0.388000														41			4		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552850	106552850	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:106552850C>T	uc003prd.2	+	4	1049	c.815C>T	c.(814-816)tCa>tTa	p.S272L	PRDM1_uc003pre.3_Missense_Mutation_p.S138L	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	272					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCTAACATTTCACCCCTCACA	0.512000			"""D, N, Mis, F, S"""		DLBCL									333			57		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806543	54806543	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54806543G>A	uc003pck.3	+	4	2890	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	925										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAGCTTCTACGATCTCATTCA	0.438000														86			20		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337918	40337918	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:40337918C>T	uc003gva.1	+	1	155	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	47					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TAATGCTCTTCGTCCAGTGGA	0.423000														59			13		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114215982	114215982	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:114215982C>T	uc001edk.3	+	18	3265	c.3084C>T	c.(3082-3084)ccC>ccT	p.P1028P	MAGI3_uc001edh.3_Silent_p.P1053P|MAGI3_uc001edi.4_Silent_p.P1028P|MAGI3_uc010owm.2_Silent_p.P1053P|MAGI3_uc001edj.3_Silent_p.P749P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1053					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGAGGCCCCCGGGGCTTTG	0.478000														125			9		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50345692	50345692	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:50345692C>T	uc004dpe.2	-	6	3909	c.3883G>A	c.(3883-3885)Gag>Aag	p.E1295K	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1295	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGCCATCTCAGGTTGGTCT	0.453000														54			22		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176905401	176905401	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176905401C>T	uc001glc.3	-	15	2694	c.2482_splice	c.e15+1	p.A828_splice	ASTN1_uc001glb.1_Splice_Site_p.A828_splice|ASTN1_uc001gld.1_Splice_Site_p.A828_splice|ASTN1_uc009wwx.1_Missense_Mutation_p.G828D	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	836					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCAGTGCTCACCCTGAGAGAT	0.537000														46			8		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680384	63680384	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:63680384C>T	uc011kdn.2	+	3	955	c.955C>T	c.(955-957)Cat>Tat	p.H319Y		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CAAGAGAATTCATACTGGAGA	0.418000														37			9		0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6626600	6626600	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:6626600C>T	uc003mwy.1	+	2	332	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S		NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	100					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TTTCTCCTATCCCATCTGTGA	0.483000														51			5		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248224344C>T	uc001idx.1	+	0	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443000														143			28		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303344	153303344	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153303344G>A	uc001fbo.3	-	8	1086	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	PGLYRP4_uc001fbp.3_Missense_Mutation_p.P337S	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	341					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTAGTTGGGAGTCAGGTAC	0.547000														95			5		0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96229504	96229504	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:96229504C>T	uc001vmh.2	+	3	545	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	CLDN10_uc001vmg.2_Silent_p.L160L|CLDN10_uc010tii.1_Silent_p.L141L	NM_006984	NP_008915	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA.	162					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			AGGAGCCGCTCTGTTTATTGG	0.378000														37			5		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167802322	167802322	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:167802322G>A	uc001ger.3	-	24	3794	c.3496C>T	c.(3496-3498)Cct>Tct	p.P1166S	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.P1013S|ADCY10_uc009wvk.3_Missense_Mutation_p.P1074S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1166					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGTTGTAAGGAAAGATTCGG	0.478000														249			22		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169707602	169707602	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169707602G>A	uc002ueg.3	+	8	905	c.639G>A	c.(637-639)ctG>ctA	p.L213L	NOSTRIN_uc002uef.3_Silent_p.L270L|NOSTRIN_uc002ueh.3_Silent_p.L135L|NOSTRIN_uc010fpu.3_Silent_p.L185L	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	213					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGAGCATTCTGGAGCTGGAGA	0.403000														76			9		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329728	20329728	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20329728C>A	uc002dgv.3	-	7	1124	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	GP2_uc002dgw.3_Silent_p.G344G|GP2_uc002dgx.3_Silent_p.G200G|GP2_uc002dgy.3_Silent_p.G197G	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	347	ZP.					anchored to membrane|extracellular region|plasma membrane		p.G346E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACTCTCCATTCCCGTCCACAC	0.473000														150			8		0.000442599	0.000444589	1	1	0
KCTD14	65987	broad.mit.edu	37	11	77728098	77728098	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:77728098G>A	uc001oyw.4	-	1	334	c.309C>T	c.(307-309)atC>atT	p.I103I	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	103	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			ACACTTCAGGGATGTGCTGTG	0.582000														36			6		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43197459	43197459	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:43197459A>G	uc003xpz.1	+	10	1391	c.1348A>G	c.(1348-1350)Atg>Gtg	p.M450V	POTEA_uc003xqa.1_Missense_Mutation_p.M404V	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	450								p.M450I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACAACTCAAAATGGATTTTAA	0.373000														56			7		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242119	18242119	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18242119G>A	uc001ipo.2	+	2	188	c.-85_splice	c.e2-1		SLC39A12_uc001ipn.2_Splice_Site|SLC39A12_uc001ipp.2_Splice_Site|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTTACCACAGAAATTCCTTT	0.433000														30			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106478165	106478165	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:106478165G>A	uc021ser.1	-	2451		c.42908C>T								Parts of antibodies, mostly variable regions.																		CAGCTTCAGGGAGAACTGGTT	0.567000														250			5		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408592	130408592	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130408592C>T	uc004ewe.4	-	17	4030	c.3747G>A	c.(3745-3747)ctG>ctA	p.L1249L	IGSF1_uc004ewd.3_Silent_p.L1244L|IGSF1_uc022cdv.1_Silent_p.L1235L|IGSF1_uc004ewf.2_Silent_p.L1224L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1244					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.G1248W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACCAGCTCCAGGGGATCAC	0.537000														73			32		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94815880	94815880	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:94815880C>T	uc011lgk.2	+	21	2361	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	TMEM67_uc010maw.2_Nonsense_Mutation_p.R470*|TMEM67_uc003yga.4_Nonsense_Mutation_p.R683*|TMEM67_uc011lgl.2_Nonsense_Mutation_p.R163*	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	764					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGATAAAATTCGACAGTTCGT	0.308000														33			4		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010313	24010313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:24010313G>A	uc002nrn.3	+	3	773	c.350G>A	c.(349-351)tGg>tAg	p.W117*		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	117			R -> W (in dbSNP:rs17856150).		cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GCAGCCTTCTGGGAGCCACGG	0.562000														38			4		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604227	111604227	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:111604227G>A	uc010hqa.3	+	1	1714	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E462K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E435K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E435K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E435K|PHLDB2_uc003dye.4_Missense_Mutation_p.E435K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E435K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	435						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGAGGGAGGAAAGACTCAG	0.517000														70			7		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048073	6048073	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6048073G>A	uc010qzw.2	-	0	899	c.862C>T	c.(862-864)Cac>Tac	p.H288Y		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		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)		GGAATAAGGTGATGAAGGACG	0.468000														85			8		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89940612	89940612	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:89940612C>T	uc003kju.3	+	14	2920	c.2824C>T	c.(2824-2826)Cct>Tct	p.P942S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	942	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGATGTATTTCCTGTACAAGG	0.378000														98			7		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861169	55861169	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55861169C>T	uc010rix.2	+	0	386	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCTGCAATCCCTTACTGTAT	0.443000														100			4		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278137	36278137	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36278137C>T	uc002obs.2	+	20	2331	c.2187C>T	c.(2185-2187)ccC>ccT	p.P729P	ARHGAP33_uc002obt.2_Silent_p.P754P|ARHGAP33_uc002obv.1_Silent_p.P478P	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	781					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GTGCCCCACCCCCGCCCCCTA	0.662000														42			11		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71493387	71493387	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:71493387C>T	uc003kbw.4	+	4	4446	c.4205C>T	c.(4204-4206)cCc>cTc	p.P1402L	MAP1B_uc010iyw.1_Missense_Mutation_p.P1419L|MAP1B_uc010iyx.1_Missense_Mutation_p.P1276L|MAP1B_uc010iyy.1_Missense_Mutation_p.P1276L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1402						microtubule|microtubule associated complex	structural molecule activity	p.P1401P(1)		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)		CGCAGCCCGCCCCTCATTGGA	0.468000														52			7		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080741	5080741	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5080741G>A	uc010qyw.2	-	0	117	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGAGTGCGATCATGTACA	0.512000														34			11		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156641209	156641209	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156641209G>A	uc003lwo.1	+	3	415	c.333G>A	c.(331-333)agG>agA	p.R111R		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	111	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.T110M(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGAAACGAGGAATAATAACA	0.453000			T	SYK	peripheral T-cell lymphoma									72			5		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103276021	103276021	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103276021G>A	uc022ajr.1	-	18	2476	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	RELN_uc022ajq.1_Silent_p.F772F|RELN_uc010liz.3_Silent_p.F772F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	772					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.Q771R(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)		GTCTCAGTGTGAACTGGAGAA	0.358000														76			9		0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153418575	153418575	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:153418575G>A	uc004fjz.4	+	2	605	c.572G>A	c.(571-573)tGg>tAg	p.W191*		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	191					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCTTTGGTTGGAGCAGGTAA	0.572000														99			15		0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538558	27538558	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:27538558C>G	uc001its.2	-	0	2678	c.835G>C	c.(835-837)Gga>Cga	p.G279R						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		ATGGTAAGTCCCAGGTCCAAA	0.483000														171			17		0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57723297	57723297	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57723297C>T	uc002qob.3	+	3	1246	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		TACCCAGCACCAGCGGATTCA	0.517000														63			6		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813961	123813961	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123813961C>T	uc010sab.2	-	0	585	c.585G>A	c.(583-585)ctG>ctA	p.L195L		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCACCAGTTTCAGCAGGTGGG	0.547000														44			10		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75109339	75109339	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:75109339C>T	uc002snd.3	+	11	3738	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	604	Catalytic.|Substrate 2 binding.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCTTCTCCTTCCCCTGCCAGC	0.557000														78			4		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94474306	94474306	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94474306C>T	uc001dqh.3	-	41	5939	c.5835_splice	c.e41+1	p.K1945_splice	ABCA4_uc001dqi.1_Splice_Site_p.K64_splice	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1945	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTCCCTTACCTTGGTTAGT	0.393000														196			8		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131375	17131375	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:17131375G>A	uc011awc.2	+	6	3427	c.3331G>A	c.(3331-3333)Gaa>Aaa	p.E1111K	PLCL2_uc011awd.2_Missense_Mutation_p.E993K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1119					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						AGTCATACCCGAAAAAGCAAA	0.418000														30			10		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628401	134628401	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:134628401C>T	uc021qbc.1	-	50	7236	c.7135G>A	c.(7135-7137)Gag>Aag	p.E2379K		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	540										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTCTTCCCTCCTTTTTCACG	0.577000														160			14		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335105	42335105	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42335105G>A	uc002igf.4	-	11	1502	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	451	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGCAGGGCGAAGAGAATGC	0.592000														44			11		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819254	14819254	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:14819254C>T	uc003zlm.3	-	14	3340	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	842					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTATGGAGATCGCCCCAAGAA	0.423000														31			3		0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99526934	99526934	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99526934C>T	uc011kjd.2	-	0	310	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	104						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCTGATAATTCCCAGTGCCAG	0.582000														242			19		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707637	96707637	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:96707637C>T	uc001kka.4	+	3	608	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	CYP2C9_uc009xut.3_Missense_Mutation_p.L195F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	195					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCAGCAATTTCTTAACTTAAT	0.403000														93			13		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378441	31378441	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31378441C>T	uc003tch.3	-	1	795	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	NEUROD6_uc022abi.1_Missense_Mutation_p.E148K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	148					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTCAGAATTTCAGAAAGTGCC	0.438000														79			6		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878443	5878443	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5878443G>A	uc010qzr.2	-	0	490	c.490C>T	c.(490-492)Cca>Tca	p.P164S	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACACCAGTGGAACAACCATG	0.522000														131			6		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000														18			5		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41819100	41819100	+	Missense_Mutation	SNP	C	T	T	rs147818852	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:41819100C>T	uc001zod.3	-	13	2037	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	638						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTCACCAGCCGGGCAGCAAT	0.582000														200			23		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996763	20996763	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20996763C>T	uc010vbe.2	-	47	7301	c.7301G>A	c.(7300-7302)gGc>gAc	p.G2434D	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2434	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCCCCTATGCCCACCAGGAG	0.552000														24			4		0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672604	108672604	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108672604C>T	uc003dxj.2	-	0	74	c.6G>A	c.(4-6)ggG>ggA	p.G2G	GUCA1C_uc003dxk.2_Silent_p.G2G	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	2					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						ATTTGCCATTCCCCATCTTGA	0.423000														75			16		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566361	41566361	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:41566361C>T	uc003xok.3	-	16	2017	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Missense_Mutation_p.E645K|ANK1_uc003xoj.3_Missense_Mutation_p.E645K|ANK1_uc003xol.3_Missense_Mutation_p.E645K|ANK1_uc003xom.3_Missense_Mutation_p.E678K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	645	89 kDa domain.				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)			GCGTGGCCCTCCTGGGCGGCC	0.627000														100			18		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17418547	17418547	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17418547C>T	uc001mnc.3	-	32	4161	c.4035G>A	c.(4033-4035)caG>caA	p.Q1345Q		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1345	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGTTCTGGATCTGGATCTTCC	0.627000														83			14		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158253972	158253972	+	Splice_Site	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:158253972A>G	uc003ipm.4	+	7	1342	c.883_splice	c.e7-1	p.Y295_splice	GRIA2_uc011cit.2_Splice_Site_p.Y248_splice|GRIA2_uc003ipl.4_Splice_Site_p.Y295_splice|GRIA2_uc003ipk.4_Splice_Site_p.Y248_splice|GRIA2_uc010iqh.1_Splice_Site	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	295					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)	CCTTTGCAGTATACTTCTGCT	0.458000														65			20		0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119631622	119631622	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119631622G>A	uc003edo.3	-	5	1627	c.644C>T	c.(643-645)tCg>tTg	p.S215L	GSK3B_uc003edn.3_Missense_Mutation_p.S215L	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	215	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACAGATATACGAAACATTGGG	0.348000														40			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229845	21229845	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21229845G>A	uc002red.3	-	25	10023	c.9895C>T	c.(9895-9897)Ctg>Ttg	p.L3299L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3299					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)	AATGATGGCAGGATTAATGTG	0.443000														65			17		0	0	1	0	0
SSX9	280660	broad.mit.edu	37	X	48159134	48159134	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:48159134C>T	uc022bvu.1	-	4	401	c.399G>A	c.(397-399)caG>caA	p.Q133Q						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TCCCATCGTTCTGTAAGCCAG	0.463000														91			50		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826570	76826570	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76826570T>C	uc009yup.3	+	6	1134	c.949T>C	c.(949-951)Ttg>Ctg	p.L317L	CAPN5_uc001oxx.3_Silent_p.L277L|CAPN5_uc009yuq.3_Silent_p.L313L|CAPN5_uc001oxy.3_Silent_p.L317L	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	277	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.V317M(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTCAGAGAAGTTGGACATGAT	0.662000														36			9		0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799036	57799036	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57799036C>T	uc010rjz.2	+	0	612	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CTGTGGATTTCCTGGTGTCTC	0.522000														94			9		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659416	43659416	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:43659416C>T	uc001jan.3	+	4	1418	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	361					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGGAGAGGTCTTGATGTTTT	0.428000														48			7		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8618320	8618320	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8618320C>T	uc002mkg.3	-	5	465	c.327_splice	c.e5-1	p.S109_splice	MYO1F_uc010xkf.2_Splice_Site_p.S109_splice	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	109	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACTCTCTCCACTGGGGATG	0.517000														64			13		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84634157	84634157	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:84634157G>A	uc001paj.2	-	0	309	c.6C>T	c.(4-6)ttC>ttT	p.F2F	DLG2_uc010rsz.1_Silent_p.F2F|DLG2_uc010rta.1_Silent_p.F2F|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Silent_p.F2F	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	2						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)				AACATGCAAAGAACATTGCAG	0.488000														40			5		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000														43			11		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713472	222713472	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:222713472C>T	uc001hnh.1	-	3	1388	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	444					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGCCCACGTCCCCACAGAAT	0.542000														68			7		0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84652723	84652724	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:84652723_84652724GG>AA	uc002son.3	-	7	1022_1023	c.829_830CC>TT	c.(829-831)cca>TTa	p.P277L		NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	277					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTTGGAATTTGGACCCTAGAAA	0.431000														99			22		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030088	95030088	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:95030088C>T	uc010avd.3	+	1	654	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SERPINA4_uc001ydk.3_Missense_Mutation_p.S90F|SERPINA4_uc001ydl.3_Missense_Mutation_p.S90F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	90					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCCATGCTTTCCCTGGGGGCC	0.607000														33			10		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160819	132160819	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:132160819G>A	uc011mvf.2	-	0	1482	c.1430C>T	c.(1429-1431)tCa>tTa	p.S477L	USP26_uc010nrm.1_Missense_Mutation_p.S477L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	477					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGAATAGATGAAGGATGTGC	0.393000														107			32		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121304984	121304984	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121304984C>T	uc003eef.3	+	4	580	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CCCAGAACATCCCCCAGTCCT	0.493000														89			14		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430875	37430875	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:37430875C>T	uc021ppc.1	+	6	981	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ANKRD30A_uc001iza.1_Silent_p.F294F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGGAAAGTTCGAACAGTCAG	0.443000														72			32		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065508	75065508	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75065508C>T	uc001dgg.3	-	10	1816	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.D327N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	533	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						TCTTTTTTATCATCCAAAGGT	0.398000														158			16		0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519872	84519872	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:84519872C>T	uc003how.3	+	11	1419	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	AGPAT9_uc003hox.3_Missense_Mutation_p.P401S|AGPAT9_uc003hoy.3_Missense_Mutation_p.P401S	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	401					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GACTGAACTTCCCTGGTAAGA	0.343000														39			9		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22447102	22447102	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22447102G>A	uc010tmm.2	+	1	275	c.83G>A	c.(82-84)aGc>aAc	p.S28N	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		CAGCTTGACAGCCAAGTCCCT	0.463000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			18		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338393	103338393	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103338393G>A	uc022ajr.1	-	9	1210	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RELN_uc022ajq.1_Silent_p.I350I|RELN_uc010liz.3_Silent_p.I350I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	350					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)		CTGAATTGATGATCAAGATGT	0.463000														108			14		0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76928579	76928579	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:76928579G>A	uc003hjh.1	-	0	63	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	8					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCCAAGAGGAAAAGAACAC	0.398000														75			19		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156468501	156468501	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:156468501G>A	uc003wmo.3	+	7	1026	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	RNF32_uc010lqm.3_Missense_Mutation_p.E266K|RNF32_uc003wmq.3_Missense_Mutation_p.E266K|RNF32_uc003wmr.3_Missense_Mutation_p.E266K|RNF32_uc003wmu.3_Non-coding_Transcript	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	266						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCAGCAGTTGGAAGAAAAATG	0.493000														107			32		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907066	65907066	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:65907066G>A	uc002jgf.3	+	10	3127	c.3066G>A	c.(3064-3066)atG>atA	p.M1022I	BPTF_uc002jge.3_Missense_Mutation_p.M1148I	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1148					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACGATGACATGAAAACAGAGT	0.363000														39			8		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352780	117352780	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:117352780G>A	uc001prh.1	-	11	2639	c.2637C>T	c.(2635-2637)atC>atT	p.I879I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	819	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCCAGCGGATGATGATGGGCC	0.622000														42			8		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131480861	131480861	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:131480861C>T	uc004bvw.3	+	17	2475	c.2082C>T	c.(2080-2082)gcC>gcT	p.A694A	PKN3_uc010myh.3_Silent_p.A694A|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	694	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	p.A694D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGCTGGATGCCCAGGGATTCC	0.567000														77			7		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49663592	49663592	+	Silent	SNP	G	A	A	rs145082626		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:49663592G>A	uc001zxl.2	-	11	1311	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	339										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TATTGAAGTCGATACCTAAAA	0.328000														77			21		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499198	65499198	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:65499198C>T	uc002aon.2	-	3	527	c.346G>A	c.(346-348)Ggt>Agt	p.G116S		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	116					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.E115K(1)		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						CACCAGAAACCCTCACGGGGA	0.642000														65			11		0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128582375	128582375	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:128582375C>T	uc011muk.1	-	23	3189	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K	SMARCA1_uc004eun.4_Missense_Mutation_p.E1026K|SMARCA1_uc004eup.4_Missense_Mutation_p.E1014K|SMARCA1_uc011mul.1_Missense_Mutation_p.E1014K	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	1026					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCCATATTTTCTTTCTCAATC	0.318000														39			9		0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377634	97377634	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:97377634G>A	uc002swv.3	-	5	705	c.669C>T	c.(667-669)ttC>ttT	p.F223F	LMAN2L_uc002swu.3_Silent_p.F212F|LMAN2L_uc010yuu.2_Silent_p.F76F|LMAN2L_uc010yut.2_Silent_p.F78F|LMAN2L_uc010yuv.2_Silent_p.F65F|LMAN2L_uc010yuw.2_Silent_p.F67F|LMAN2L_uc010yux.2_Silent_p.F67F	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	212	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding	p.T223M(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GAATCACCAGGAAGGTGTCGT	0.572000														82			4		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044216	94044216	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94044216G>A	uc001ybv.1	+	14	1792	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	UNC79_uc001ybs.1_Missense_Mutation_p.R570Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	747						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						CCTGGCCGACGAGTTCAGCAC	0.443000														149			35		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151789714	151789714	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:151789714G>A	uc001ezh.3	-	2	221	c.113C>T	c.(112-114)tCg>tTg	p.S38L	RORC_uc001ezg.3_Missense_Mutation_p.S17L|RORC_uc010pdo.2_Missense_Mutation_p.S92L|RORC_uc010pdp.2_Missense_Mutation_p.S38L	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	38					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GATCCCAGACGACTTGTCCCC	0.517000														49			7		0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77808177	77808177	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:77808177G>A	uc001xto.1	-	5	915	c.915C>T	c.(913-915)ttC>ttT	p.F305F	TMED8_uc001xtn.1_Silent_p.F149F	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	305	GOLD.				transport	integral to membrane		p.F305F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGGAGTTGTCGAACTTGAGCA	0.587000														66			13		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42082637	42082637	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42082637C>T	uc002ore.4	+	0	107	c.11C>T	c.(10-12)cCc>cTc	p.P4L	CEACAM21_uc002orc.1_Intron|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.P4L	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	4						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ATGGGGCCCCCCTCAGCTTGT	0.622000														26			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675173	100675173	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100675173C>T	uc003uxp.1	+	2	529	c.476C>T	c.(475-477)tCa>tTa	p.S159L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	159	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATTTCATCAACAATGGCT	0.453000														151			54		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21394388	21394388	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:21394388C>T	uc002kuq.3	+	14	1896	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	LAMA3_uc002kur.3_Missense_Mutation_p.H604Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	604	Domain V.|Laminin EGF-like 6.				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)	ATGCAAGCTTCATGTTGAAGG	0.388000														60			8		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105510107	105510107	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:105510107G>A	uc003yma.3	-	4	800	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	LRP12_uc003ymb.3_Missense_Mutation_p.R206C|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	225	LDL-receptor class A 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R225S(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGTAAAACGGGATAAACAC	0.448000														75			10		0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661489	180661489	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:180661489G>A	uc003mne.2	+	5	2344	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mng.1_Missense_Mutation_p.R116Q	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	536	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCGCCGCCGGCTCCACCTG	0.667000														34			7		0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86839375	86839375	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86839375G>A	uc002srn.3	-	2	1380	c.389C>T	c.(388-390)cCc>cTc	p.P130L	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_5'UTR|RNF103_uc021vkg.1_Missense_Mutation_p.P126L|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	130					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GCCCACCAAGGGACTTCTGTC	0.373000														52			8		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69874684	69874684	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:69874684C>T	uc011cao.1	-	6	1192	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	UGT2B10_uc011can.1_Missense_Mutation_p.D272N			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	400					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCAATGTTATCAGATTGATCA	0.433000														106			32		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102650354	102650354	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102650354C>T	uc001phg.2	-	1	265	c.228G>A	c.(226-228)ggG>ggA	p.G76G		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	76					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGTCTAGCTTCCCTGTCACCT	0.483000														28			3		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166990927	166990927	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:166990927A>T	uc001gdy.1	+	11	1211	c.1140A>T	c.(1138-1140)aaA>aaT	p.K380N	MAEL_uc021peh.1_Missense_Mutation_p.K324N|MAEL_uc001gdz.1_Missense_Mutation_p.K349N|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	380					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTAGGGCAAAAATTTCTGGCC	0.378000														36			6		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032840	193032840	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193032840C>T	uc011bsq.2	-	17	2079	c.2079G>A	c.(2077-2079)atG>atA	p.M693I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	693					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGCGATTCTCCATGATGAGAA	0.388000														90			15		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148903910	148903910	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:148903910C>T	uc003wfm.3	+	2	813	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ZNF282_uc011kun.1_Silent_p.S236S|ZNF282_uc003wfn.3_Silent_p.S176S|ZNF282_uc003wfo.3_Silent_p.S176S	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	236	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCCTCATGTCCCTGGGTAAGG	0.478000														111			6		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477501	74477501	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74477501C>T	uc002sko.1	-	11	1624	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G541E|SLC4A5_uc010ffc.1_Missense_Mutation_p.G541E|SLC4A5_uc002skp.1_Missense_Mutation_p.G477E|SLC4A5_uc002sks.1_Missense_Mutation_p.G541E	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	541						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCCAGAAGCCCACCAAAGGT	0.537000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			10		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42200588	42200588	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42200588G>A	uc003ose.2	-	16	3732	c.3169C>T	c.(3169-3171)Cac>Tac	p.H1057Y	TRERF1_uc011duq.1_Missense_Mutation_p.H954Y|TRERF1_uc003osb.2_Missense_Mutation_p.H805Y|TRERF1_uc003osc.2_Missense_Mutation_p.H793Y|TRERF1_uc003osd.2_Missense_Mutation_p.H1037Y	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1037	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCCCCCGTGGATGCGGGCA	0.572000														8			5		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55351072	55351072	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55351072G>A	uc002qhm.1	+	4	604	c.558G>A	c.(556-558)ggG>ggA	p.G186G	KIR3DL2_uc010yfj.2_Missense_Mutation_p.G180E|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.G187E|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	289	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCCACGGAGGGACCTACAGAT	0.592000														185			37		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182585207	182585207	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:182585207G>C	uc003flb.3	+	14	1920	c.1663G>C	c.(1663-1665)Gtt>Ctt	p.V555L	ATP11B_uc003flc.3_Missense_Mutation_p.V139L	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	555					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AACTATGGAGGTTAAAACTCT	0.294000														36			12		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354861	45354861	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:45354861C>T	uc002xsl.3	+	1	1283	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	396						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTCTGCCCTCCCTGGGCCCCC	0.637000														43			7		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604719	62604719	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:62604719G>A	uc003peg.2	-	5	878	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	211	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGGGGAGGAGGAATGGCACCC	0.537000														35			11		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875434	189875434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189875434C>T	uc002uqj.1	+	49	4189	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1358	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCATTCCTTCGACTTCTCTC	0.428000														97			7		0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505831	57505831	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57505831C>T	uc001nlc.2	+	3	466	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	CTNND1_uc001nlf.2_Intron|TMX2_uc001nld.2_Silent_p.L30L|TMX2_uc001nle.2_Silent_p.L86L|TMX2_uc021qji.1_Intron|C11orf31_uc021qjj.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	124	Thioredoxin.				cell redox homeostasis	integral to membrane		p.L124P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TTTAGTGTTCCTGATGACGTG	0.403000														95			10		0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155159934	155159934	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155159934G>A	uc021pap.1	-	6	1299	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	MUC1_uc001fhz.3_Silent_p.A105A|MUC1_uc001fhy.3_Silent_p.A105A|MUC1_uc010pfb.2_Silent_p.A105A|MUC1_uc010pfh.2_Silent_p.A251A|MUC1_uc010pff.2_Silent_p.A183A|MUC1_uc010pfi.2_Silent_p.A251A|MUC1_uc010pfj.2_Silent_p.A275A|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_Silent_p.A105A|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_Silent_p.A105A|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Silent_p.A127A|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Non-coding_Transcript|MUC1_uc010pfm.2_Silent_p.A105A|MUC1_uc001fiq.3_Silent_p.A105A|MUC1_uc009wqa.3_Silent_p.A263A|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Missense_Mutation_p.L179F|MUC1_uc010pfo.2_Silent_p.A127A|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Missense_Mutation_p.L118F|MUC1_uc010pfp.2_Silent_p.A127A|MUC1_uc001fij.3_Silent_p.A189A|MUC1_uc009wqc.3_Silent_p.A177A|MUC1_uc009wqd.3_Silent_p.A201A|MUC1_uc001fia.3_Silent_p.A180A|MUC1_uc009wqb.3_Silent_p.A105A|MUC1_uc009wpx.3_Silent_p.A164A|MUC1_uc010pfq.2_Silent_p.A177A|MUC1_uc001fid.3_Silent_p.A155A|MUC1_uc001fit.3_Silent_p.A105A|MUC1_uc009wpz.3_Silent_p.A207A|MUC1_uc001fii.3_Non-coding_Transcript|MUC1_uc001fik.3_Silent_p.A198A|MUC1_uc009wpo.3_Silent_p.A142A|MUC1_uc010pfr.2_Silent_p.A137A|MUC1_uc001fih.3_Non-coding_Transcript|MUC1_uc001fio.3_Silent_p.A128A|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Silent_p.A114A|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Silent_p.A127A|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Missense_Mutation_p.L99F|MUC1_uc021paq.1_Silent_p.A400A|MUC1_uc009wqg.3_Silent_p.A136A|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Silent_p.A154A|MUC1_uc009wps.3_Silent_p.A163A|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Silent_p.A166A|MUC1_uc009wpq.3_Silent_p.A168A|MUC1_uc009wpr.3_Silent_p.A70A|MUC1_uc001fig.3_Silent_p.A91A|MUC1_uc001fif.3_Silent_p.A82A|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Non-coding_Transcript|MUC1_uc009wpv.3_Silent_p.A109A|MUC1_uc001fib.3_Silent_p.A109A|MUC1_uc001fis.2_Silent_p.A105A|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	1180	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACTCACCAAGGCAATGAGAT	0.622000			T	IGH@	B-NHL									67			10		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435524	18435524	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18435524G>A	uc001rdt.3	+	1	625	c.509G>A	c.(508-510)gGa>gAa	p.G170E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.G170E|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	170					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)				TACCATATAGGATTTGAAAGT	0.338000														56			13		0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47099222	47099222	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:47099222G>A	uc004dhp.3	+	3	580	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	USP11_uc004dhq.3_5'UTR	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	194					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GAAGGTCGAAGTGTACCCAGT	0.498000														31			17		0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21314463	21314463	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:21314463C>T	uc002wsf.1	+	10	1150	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	XRN2_uc002wsg.1_Missense_Mutation_p.S276L|XRN2_uc010zsk.1_Missense_Mutation_p.S298L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	352					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CATTTGCCATCGTTAGAGATT	0.418000														244			33		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816047	16816047	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:16816047C>T	uc010rcu.1	-	18	2748	c.2733G>A	c.(2731-2733)gcG>gcA	p.A911A	PLEKHA7_uc001mmo.3_Silent_p.A911A|PLEKHA7_uc001mmm.3_5'Flank|PLEKHA7_uc010rcv.2_Silent_p.A485A|PLEKHA7_uc001mmn.3_Silent_p.A619A	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	911	Pro-rich.				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						CTTTGGGCTTCGCCTTAGTTG	0.522000														70			17		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243721	56243721	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56243721C>T	uc002qly.3	-	1	1504	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	492						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATGAATATCCCCACCTGGG	0.463000														101			13		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12952812	12952812	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12952812G>A	uc001auo.3	-	3	1433	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	454										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)		CAAGGGACGGGACCAAAGAAG	0.532000														31			13		0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396043	101396043	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:101396043C>T	uc022cas.1	-	0	261	c.261G>A	c.(259-261)caG>caA	p.Q87Q	TCEAL6_uc004eiq.3_Silent_p.Q87Q	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CTGGCTTTGCCTGGGAGGCTG	0.602000														128			28		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6913826	6913826	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6913826C>T	uc002mfw.3	+	10	1323	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	EMR1_uc010dvc.3_Missense_Mutation_p.R429W|EMR1_uc010dvb.3_Missense_Mutation_p.R377W|EMR1_uc010xji.2_Missense_Mutation_p.R288W|EMR1_uc010xjj.2_Missense_Mutation_p.R252W	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	429	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498000														143			15		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698751	21698751	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21698751C>T	uc002djh.3	+	6	418	c.417C>T	c.(415-417)atC>atT	p.I139I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.I60I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	139					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGACATCATCATCGACTTAG	0.517000														106			24		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847266	47847266	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:47847266C>T	uc011dwm.2	-	2	1348	c.1314G>A	c.(1312-1314)acG>acA	p.T438T	PTCHD4_uc011dwn.2_Silent_p.T185T	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	438						integral to membrane	hedgehog receptor activity										GGTAGGGGTTCGTCTCATGAT	0.448000														65			17		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108507321	108507321	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:108507321C>T	uc001dvk.1	-	0	225	c.171G>A	c.(169-171)ctG>ctA	p.L57L	VAV3_uc010ouw.1_Silent_p.L57L|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Silent_p.L57L	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	57	CH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGATCTCCTTCAGGTTGATGG	0.632000														32			8		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315671	50315671	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50315671C>T	uc001jhf.2	-	1	454	c.425G>A	c.(424-426)tGg>tAg	p.W142*	VSTM4_uc001jhh.2_Nonsense_Mutation_p.W142*	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	142	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCCATTGGACCAGGCCGTCCA	0.602000														47			17		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	C	C	rs143761036	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000														71			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579994	82579994	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82579994G>A	uc003uhx.2	-	5	10199	c.9910C>T	c.(9910-9912)Cac>Tac	p.H3304Y	PCLO_uc003uhv.2_Missense_Mutation_p.H3304Y|PCLO_uc010lec.3_Missense_Mutation_p.H269Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3235					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCTGCTGGTGAAGCTGTTGT	0.493000														108			10		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099262	168099262	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:168099262C>T	uc002udx.3	+	8	1449	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P279S|XIRP2_uc010fpq.3_Missense_Mutation_p.P232S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	279					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						AGAATTTCCTCCTCCCCCACC	0.453000														59			10		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177632734	177632734	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:177632734G>A	uc003ius.1	-	3	1053	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	208					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCATCGGCAGGAAGTGTGATT	0.393000														87			15		0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39135199	39135199	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39135199G>A	uc010cxh.1	-	7	1214	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	351	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCAGGTTATCGATCAGACACT	0.592000														84			4		0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233235	56233235	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:56233235G>A	uc010aos.3	+	0		c.273G>A								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		ACCGCCCTACGATAAGAAAAA	0.582000														14			3		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235216	87235216	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:87235216C>T	uc003ydq.1	-	1	900	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC7A13_uc003ydr.1_Missense_Mutation_p.E259K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	268						integral to membrane	amino acid transmembrane transporter activity	p.E268K(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAGAGAATTTCCCTGGGTGTC	0.383000														60			14		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15826515	15826515	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:15826515G>A	uc003gol.1	+	2	482	c.375G>A	c.(373-375)tgG>tgA	p.W125*	CD38_uc021xmk.1_Intron	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	125					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TTCTTCTTTGGAGCAGAATAA	0.388000														42			9		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81053372	81053372	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:81053372C>T	uc001kaf.2	+	11	1764	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	ZMIZ1_uc001kag.2_Missense_Mutation_p.L274F|ZMIZ1_uc001kah.1_Missense_Mutation_p.L280F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	398	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCCCAGTCCCTTCCTATTCA	0.652000														136			6		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528900	20528900	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20528900C>T	uc001vwn.1	+	0	697	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATCACATGGGCTCTCCAAGGC	0.453000														81			9		0	0	1	0	0
COX6B2	125965	broad.mit.edu	37	19	55865857	55865857	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55865857C>T	uc002qkn.3	-	1	497	c.33G>A	c.(31-33)aaG>aaA	p.K11K	COX6B2_uc002qkm.3_Non-coding_Transcript|COX6B2_uc002qko.3_Non-coding_Transcript|COX6B2_uc002qkp.1_Silent_p.K11K	NM_144613	NP_653214	Q6YFQ2	CX6B2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIb polypeptide 2 (testis) (COX6B2), mRNA.	11						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACCATTTCCCCTTGGGGGGCT	0.662000														217			20		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401661	140401661	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140401661C>T	uc003eto.2	+	1	905	c.699C>T	c.(697-699)tcC>tcT	p.S233S		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	233						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACCGCTCCTCCGGGCCCATCC	0.622000														95			4		0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159581	62159581	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:62159581C>T	uc001nte.4	+	6	1036	c.752C>T	c.(751-753)tCg>tTg	p.S251L	ASRGL1_uc001ntf.4_Missense_Mutation_p.S251L|ASRGL1_uc001ntg.4_Missense_Mutation_p.S123L|ASRGL1_uc021qkl.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	251					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GCGGACCTATCGTTGGGTTAT	0.478000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			4		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43668348	43668348	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43668348G>A	uc001zro.3	+	1	371	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	TUBGCP4_uc001zrn.3_Missense_Mutation_p.R44Q|TUBGCP4_uc010bdh.3_5'Flank	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	44					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTCCTGAATCGACTCTGCCGG	0.562000											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			15		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712163	121712163	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712163G>A	uc003ees.3	-	6	1636	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	ILDR1_uc003eeq.3_Missense_Mutation_p.S446F|ILDR1_uc003eer.3_Missense_Mutation_p.S434F|ILDR1_uc010hrg.3_Missense_Mutation_p.S389F	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	478						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AGAGCTCCAGGAACTGAGGCC	0.711000														35			4		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175392	51175392	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:51175392G>A	uc021tif.1	-	1	772	c.450C>T	c.(448-450)atC>atT	p.I150I	SALL1_uc021tid.1_Silent_p.I150I|SALL1_uc021tie.1_Silent_p.I247I|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	247	Poly-Ser.		Missing.|S -> SS.		adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I247I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAATCTGTTCGATCAATTGCA	0.542000														102			12		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833289	168833289	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:168833289G>A	uc011bpj.1	-	7	2774	c.2371C>T	c.(2371-2373)Cct>Tct	p.P791S	MECOM_uc010hwk.1_Missense_Mutation_p.P626S|MECOM_uc003ffj.3_Missense_Mutation_p.P668S|MECOM_uc003ffi.3_Missense_Mutation_p.P603S|MECOM_uc011bpi.1_Missense_Mutation_p.P604S|MECOM_uc003ffn.3_Missense_Mutation_p.P603S|MECOM_uc003ffk.2_Missense_Mutation_p.P603S|MECOM_uc003ffl.2_Missense_Mutation_p.P763S|MECOM_uc011bpk.1_Missense_Mutation_p.P603S|MECOM_uc010hwn.2_Missense_Mutation_p.P791S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	12							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTTTTCGAGGCTCAGTCAGC	0.527000														49			7		0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74968140	74968140	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:74968140G>A	uc002lms.4	+	1	1190	c.693G>A	c.(691-693)ttG>ttA	p.L231L		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	231					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ATAAAAAGTTGAAGAACATGT	0.333000														60			6		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	157999217	157999217	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:157999217C>T	uc003ipj.2	+	1	243	c.41C>T	c.(40-42)tCc>tTc	p.S14F	GLRB_uc021xtp.1_Missense_Mutation_p.S14F|GLRB_uc021xtq.1_Missense_Mutation_p.S14F	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	14					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATTTTAATTTCCTTGTGGGTG	0.338000														30			9		0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148712107	148712107	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:148712107G>A	uc003wff.2	-	3	785	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	168	Thioredoxin 1.|Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GTCGGGCTGGGAGACTTCTCT	0.493000														45			5		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641013	57641013	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57641013C>T	uc002qny.3	+	3	1326	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S	USP29_uc021vci.1_Missense_Mutation_p.P324S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	324					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)		GGAATATATTCCCTTTGAGGC	0.383000														52			12		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68478369	68478369	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68478369G>A	uc001ooc.3	-	8	1447	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	436					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGAAGTCCTGAAAATTTCGT	0.423000														30			10		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107930850	107930850	+	Missense_Mutation	SNP	G	A	A	rs104886281		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107930850G>A	uc022ccg.1	+	48	4656	c.4454G>A	c.(4453-4455)gGa>gAa	p.G1485E	COL4A5_uc004enz.1_Missense_Mutation_p.G1479E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1479	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGCCCACAGGGAACACTTCAG	0.478000									Alport syndrome with Diffuse Leiomyomatosis					93			26		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712476	121712476	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712476G>A	uc003ees.3	-	6	1323	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	ILDR1_uc003eeq.3_Missense_Mutation_p.P342S|ILDR1_uc003eer.3_Missense_Mutation_p.P330S|ILDR1_uc010hrg.3_Missense_Mutation_p.P285S	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	374						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGGAAATCAGGGTAATGGTGG	0.597000														62			4		0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31327180	31327180	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:31327180G>A	uc001msv.3	-	5	974	c.736C>T	c.(736-738)Cca>Tca	p.P246S	DCDC5_uc001msu.2_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	246	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTTTGAATGGATTTAAAAAG	0.393000														83			5		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668534	176668534	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176668534G>A	uc001gkz.3	+	7	4209	c.3045G>A	c.(3043-3045)ggG>ggA	p.G1015G	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1015					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D1014E(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACGTGGATGGGAAGGTGTCGG	0.522000														114			26		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024953	2024953	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2024953T>C	uc002cnu.1	+	6	591	c.489T>C	c.(487-489)ccT>ccC	p.P163P	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.P49P|TBL3_uc010bsc.1_Silent_p.P49P|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	163					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						ACCCGGACCCTACACGCCTGC	0.672000														75			13		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072708	35072708	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35072708C>T	uc003jjm.3	-	5	1071	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	PRLR_uc003jjk.1_Missense_Mutation_p.R100Q|PRLR_uc003jjg.2_Missense_Mutation_p.R171Q|PRLR_uc003jjh.2_Missense_Mutation_p.R171Q|PRLR_uc003jji.2_Missense_Mutation_p.R100Q|PRLR_uc003jjj.2_Missense_Mutation_p.R171Q|PRLR_uc003jjl.4_Missense_Mutation_p.R70Q|PRLR_uc021xxl.1_Missense_Mutation_p.R171Q|PRLR_uc010iuw.1_Missense_Mutation_p.R100Q	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	171	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.R171L(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGGTTTTAATCGAATTTCATA	0.438000														98			6		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566459	5566459	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5566459C>T	uc010qzh.2	-	0	295	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E99K(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGTGATTTCGCGAGCCCCT	0.468000														63			6		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043127	102043127	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:102043127G>A	uc001tii.3	+	12	1351	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	MYBPC1_uc001tif.2_Missense_Mutation_p.G417E|MYBPC1_uc001tig.3_Missense_Mutation_p.G429E|MYBPC1_uc010svr.2_Missense_Mutation_p.G404E|MYBPC1_uc010svs.2_Missense_Mutation_p.G404E|MYBPC1_uc001tij.3_Missense_Mutation_p.G404E|MYBPC1_uc010svt.2_Missense_Mutation_p.G392E|MYBPC1_uc010svu.2_Missense_Mutation_p.G385E|MYBPC1_uc001tik.3_Missense_Mutation_p.G378E|MYBPC1_uc001tih.3_Missense_Mutation_p.G429E|MYBPC1_uc010svq.2_Missense_Mutation_p.G391E	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	404	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATCATAGAGGGAGCAACAAAG	0.378000														103			7		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23900200	23900200	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:23900200C>T	uc001wjx.3	-	9	911	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	269	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGGATTTTTCCAGAAGATCT	0.408000														61			7		0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1561106	1561106	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:1561106G>A	uc004cpx.2	-	1	335	c.198C>T	c.(196-198)gcC>gcT	p.A66A	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Silent_p.A66A|ASMTL_uc011mhe.2_Missense_Mutation_p.P12L|ASMTL_uc011mhf.2_Silent_p.A8A	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	66	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(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)				CCACCTCCAGGGCCTTCTGCT	0.562000														118			33		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524770	112524770	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112524770G>A	uc001ebu.1	-	1	1059	c.579C>T	c.(577-579)atC>atT	p.I193I	KCND3_uc001ebv.1_Silent_p.I193I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	193						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCGAGACAGCGATGAAGAAGC	0.657000														40			9		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11726160	11726160	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11726160C>T	uc002gne.3	+	47	9123	c.9055C>T	c.(9055-9057)Cac>Tac	p.H3019Y	DNAH9_uc010coo.3_Missense_Mutation_p.H2313Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3019	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCTTTGTCCACACAAGTGT	0.418000														115			13		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561816	142561816	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142561816G>A	uc011kst.2	+	6	1045	c.258G>A	c.(256-258)caG>caA	p.Q86Q	EPHB6_uc011ksu.2_Silent_p.Q86Q|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	86						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A85T(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)					GCACCGGGCAGGACAATTGGT	0.637000														258			26		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186848	47186848	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:47186848G>A	uc001rpi.2	-	2	406	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	SLC38A4_uc001rpj.2_Missense_Mutation_p.P3S|SLC38A4_uc009zkl.2_Missense_Mutation_p.P3S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	3					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)					AGTTCCATGGGATCCATTTGA	0.443000														89			8		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123046465	123046465	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:123046465C>T	uc003egh.2	-	7	1947	c.1947_splice	c.e7+1	p.R649_splice	ADCY5_uc021xdd.1_Splice_Site_p.R299_splice|ADCY5_uc003egg.2_Splice_Site_p.R282_splice|ADCY5_uc003egi.1_Splice_Site_p.R208_splice	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	649					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCCACAGACCCGCTTCTGGG	0.622000														28			3		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393845	154393845	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:154393845G>A	uc010jih.1	+	0	586	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	142	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTACTTAGAGATTTACAATG	0.358000														83			19		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600809	29600810	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:29600809_29600810GG>AA	uc001usl.4	+	0	2062_2063	c.2004_2005GG>AA	c.(2002-2007)gtggac>gtAAac	p.D669N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	659	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						TGGGCCAGGTGGACGCCTCGCT	0.584000														21			8		0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68551693	68551693	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:68551693C>T	uc001stw.1	-	3	492	c.366_splice	c.e3+1	p.S122_splice		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	122					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)	ATAGCCTCACCGAATAATTAG	0.363000														76			5		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514947	99514947	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:99514947C>T	uc003dti.1	+	2	2333	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.S734S|COL8A1_uc003dth.1_Silent_p.S734S	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	734	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGTCCACTCCTCCTTTTCAG	0.443000														37			3		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111286466	111286466	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:111286466C>T	uc003dxw.3	+	2	685	c.515C>T	c.(514-516)tCa>tTa	p.S172L	CD96_uc003dxv.3_Missense_Mutation_p.S172L|CD96_uc003dxx.3_Missense_Mutation_p.S172L|CD96_uc010hpy.1_Missense_Mutation_p.S172L	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	172	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TCAAAAATTTCATCTGAGTTC	0.368000									Opitz Trigonocephaly syndrome					30			10		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162864441	162864441	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:162864441G>A	uc021zhu.1	-	2	304	c.213C>T	c.(211-213)ttC>ttT	p.F71F	PARK2_uc003qtw.4_5'UTR|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Silent_p.F24F|PARK2_uc021zhs.1_Silent_p.F24F|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.F24F|PARK2_uc003qtz.4_Silent_p.F24F|PARK2_uc021zhv.1_5'UTR|PARK2_uc021zhw.1_5'UTR|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.F24F|PARK2_uc010kke.1_Silent_p.F24F	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	24	Ubiquitin-like.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCTTGAGCTGGAAGATGCTGG	0.532000														86			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202409	140202409	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140202409C>T	uc003lhl.2	+	0	1049	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	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_uc003lhk.1_Missense_Mutation_p.A350V|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A350V	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	366	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)			CCAGAGATGGCCATAACCACC	0.473000														42			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087899	9087899	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9087899C>T	uc002mkp.3	-	0	4120	c.3916G>A	c.(3916-3918)Gag>Aag	p.E1306K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1306	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E1306Q(3)		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						GCTGTCATCTCAGGTGAAGAC	0.498000														106			6		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349846	89349846	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89349846T>G	uc002fmx.1	-	8	3565	c.3104A>C	c.(3103-3105)aAg>aCg	p.K1035T	ANKRD11_uc002fmy.1_Missense_Mutation_p.K1035T|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1035T|ANKRD11_uc002fnb.1_Missense_Mutation_p.K992T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1035	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACTTTTGTCCTTGTCACTGGA	0.393000														66			10		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041328	234041328	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:234041328C>T	uc001hvy.1	+	1	252	c.107C>T	c.(106-108)cCc>cTc	p.P36L		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane		p.S35I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GACATCAGCCCCCAGCTCCGG	0.672000														31			7		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304077	115304077	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:115304077C>T	uc022cdd.1	+	0	544	c.544C>T	c.(544-546)Cga>Tga	p.R182*	AGTR2_uc004eqh.4_Nonsense_Mutation_p.R182*	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	182					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ATTTTATTTTCGAGACGTCAG	0.428000														93			29		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62724141	62724141	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62724141C>T	uc002yic.3	+	2	487	c.68C>T	c.(67-69)tCc>tTc	p.S23F	OPRL1_uc002yid.3_Missense_Mutation_p.S23F|OPRL1_uc021wgs.1_Missense_Mutation_p.S23F|OPRL1_uc002yif.4_Missense_Mutation_p.S23F	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	23					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGCAACCTGTCCCTCCTGAGC	0.647000														109			16		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412108	51412108	+	Missense_Mutation	SNP	C	T	T	rs148710182		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:51412108C>T	uc001nhi.2	-	0	341	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M96I(4)|p.C95S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAGCTGGCCCATGCAACCTT	0.448000														61			6		0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79101110	79101110	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:79101110G>A	uc010oro.2	+	4	991	c.812G>A	c.(811-813)gGa>gAa	p.G271E	IFI44L_uc010orp.2_Missense_Mutation_p.G8E|IFI44L_uc010orq.2_Missense_Mutation_p.G8E	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	271						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGGGCAGAAGGAGCAGGACTG	0.368000														69			19		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437009	248437009	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248437009G>A	uc010pzi.2	-	0	108	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCCAAACAGGGAGGTCAAAA	0.488000														70			4		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37051982	37051982	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:37051982C>T	uc003jkl.4	+	40	7555	c.7056C>T	c.(7054-7056)ttC>ttT	p.F2352F	NIPBL_uc003jkk.4_Silent_p.F2352F|NIPBL_uc003jkn.3_Silent_p.F45F	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2352					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATGCTGGATTCATTCATGTAT	0.343000														35			8		0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547861	100547861	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:100547861G>A	uc004ehb.3	-	0	199	c.173C>T	c.(172-174)cCt>cTt	p.P58L	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	58					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.P58S(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTCGTCGGCAGGAATCTGGGT	0.557000														97			36		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406132	85406132	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:85406132G>A	uc002ble.3	+	9	5169	c.5002G>A	c.(5002-5004)Gac>Aac	p.D1668N	ALPK3_uc010upc.2_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1668	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGAAACTACGACGTCACCAT	0.552000														68			19		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99364008	99364008	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99364008G>A	uc003urv.2	-	8	964	c.857C>T	c.(856-858)tCc>tTc	p.S286F	CYP3A4_uc003urw.2_Missense_Mutation_p.S285F|CYP3A4_uc011kiz.2_Missense_Mutation_p.S245F	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	286					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ACCTTTGTGGGACTCAGTTTC	0.453000														67			14		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137784	63137784	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63137784G>A	uc001nww.3	+	0	524	c.256G>A	c.(256-258)Gag>Aag	p.E86K	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	86					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CATGAGGCCAGAGAAGTGTCG	0.537000														82			6		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170448	58170448	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58170448G>A	uc010rkf.2	-	0	435	c.435C>T	c.(433-435)ggC>ggT	p.G145G		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAGGTAGGAGCCTATGGCCA	0.483000														86			11		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131639117	131639117	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:131639117G>A	uc021qav.1	-	13	1584	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	EBF3_uc001lki.2_Missense_Mutation_p.P509S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	518	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTGCCGTAGGGAGAGTTAGCG	0.507000														84			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453442	179453442	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179453442C>T	uc021vsy.1	-	252	55531	c.55306G>A	c.(55306-55308)Gaa>Aaa	p.E18436K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12131K|TTN_uc021vta.1_Missense_Mutation_p.E12064K|TTN_uc021vtb.1_Missense_Mutation_p.E11939K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19363	Ig-like 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E18435K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGCTTTTCCTTTTTCTCC	0.418000														63			9		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835116	172835116	+	Missense_Mutation	SNP	G	A	A	rs144595913		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:172835116G>A	uc003fin.4	-	1	590	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	136					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.R136R(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTCATAGCGAACACCCATT	0.418000														82			9		0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72913800	72913800	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:72913800C>T	uc002llx.3	-	1	973	c.705G>A	c.(703-705)caG>caA	p.Q235Q	ZADH2_uc010dqv.3_Silent_p.Q112Q	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	235						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CAGGGTACTCCTGCTTAAGGA	0.478000														79			4		0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084830	147084830	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:147084830C>T	uc004fcm.3	+	1	461	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	129	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATTTTTTCTTTCCAACAA	0.373000														25			8		0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127224953	127224953	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:127224953G>T	uc003vma.3	-	0	702	c.284C>A	c.(283-285)aCt>aAt	p.T95N		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	95						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCGGTCCCAGTGCTATCCTC	0.612000														53			15		3.27435e-08	3.30748e-08	1	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756286	94756286	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94756286C>T	uc001yct.3	-	1	1111	c.645G>A	c.(643-645)ggG>ggA	p.G215G	SERPINA10_uc001ycu.4_Silent_p.G215G	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	215					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.G215G(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGGAATTTTCCCCCGAGTCT	0.388000														34			7		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196577421	196577421	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196577421C>T	uc001gtd.1	-	0	79	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	KCNT2_uc001gte.1_Missense_Mutation_p.E7K|KCNT2_uc001gtf.1_Missense_Mutation_p.E7K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E7K|KCNT2_uc009wyv.1_Missense_Mutation_p.E7K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	7						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S6S(2)		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						GGGGGCACTTCGCTCTCCAAA	0.502000														59			7		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004125	75004125	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:75004125G>A	uc004ecj.2	-	0	955	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	254	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGCTCTAGAGCCCCACAAGA	0.488000														42			9		0	0	1	0	0
C20orf94	128710	broad.mit.edu	37	20	10603396	10603396	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:10603396C>T	uc010zre.2	+	7	776	c.596C>T	c.(595-597)gCa>gTa	p.A199V		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	199							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						TCAGTGATTGCAGAGATAGCA	0.473000														46			15		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157081161	157081161	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:157081161G>A	uc003fbj.2	-	8	2146	c.1727C>T	c.(1726-1728)aCc>aTc	p.T576I	VEPH1_uc003fbk.2_Missense_Mutation_p.T576I|VEPH1_uc010hvu.2_Missense_Mutation_p.T576I	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	576						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCTTCAATGGTACACTGATC	0.373000														112			8		0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488495	121488495	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:121488495G>A	uc003ksv.3	+	1	1186	c.810G>A	c.(808-810)ccG>ccA	p.P270P	ZNF474_uc021ycy.1_Silent_p.P270P	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	270						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGCCCCTTCCGAATGCACAGT	0.542000														50			8		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10622534	10622534	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:10622534C>T	uc010rcc.1	-	14	2334	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	MRVI1_uc010rcb.1_Missense_Mutation_p.D642N|MRVI1_uc001miw.2_Missense_Mutation_p.D641N|MRVI1_uc001mix.3_Missense_Mutation_p.D335N|MRVI1_uc001miz.2_Missense_Mutation_p.D559N|MRVI1_uc010rcd.1_Missense_Mutation_p.D444N|MRVI1_uc009ygd.1_Missense_Mutation_p.D335N|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.	623				P -> L (in Ref. 1; AAD25922/AAD25923).	platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		p.P650H(1)		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)		TCCGCATGGTCCTTCTCATAC	0.522000														173			23		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968707	119968707	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:119968707G>A	uc001txe.3	+	12	1855	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	464										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAAACTGCCAGAGGATCTAAA	0.493000														54			4		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898185	30898185	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30898185C>T	uc002wxq.3	+	1	785	c.605C>T	c.(604-606)tCt>tTt	p.S202F	KIF3B_uc010ztv.2_Missense_Mutation_p.S202F|KIF3B_uc010ztw.2_Missense_Mutation_p.S202F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	202	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGAACCGTTCTGTCGGTGCT	0.498000														58			6		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183780	13183780	+	Silent	SNP	A	C	C	rs116484938	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:13183780A>C	uc010obg.2	-	1	336	c.93T>G	c.(91-93)tcT>tcG	p.S31S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	31						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CCTCCACATCAGATTTCTTGA	0.468000														103			5		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43156451	43156451	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43156451G>A	uc003ouk.3	+	7	2253	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.3_Silent_p.L726L|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_3'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	726					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACAGATCGCTGAGGTTAGCAT	0.547000														44			4		0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503326	39503326	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39503326C>T	uc002hwk.1	-	3	774	c.737G>A	c.(736-738)tGg>tAg	p.W246*		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	246	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGTGGCGAACCATTGCTCCAC	0.627000														43			4		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570050	22570050	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:22570050C>T	uc003nds.3	+	0	373	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	82										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TGTGGGAAATCGAGAACAACC	0.652000														16			3		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534868	13534868	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:13534868G>C	uc001imm.2	-	4	721	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E	BEND7_uc001imo.4_Missense_Mutation_p.Q155E	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	194							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGTCTGTTTTGAGTTCCAACT	0.403000														56			8		0	0	1	0	0
CLN6	54982	broad.mit.edu	37	15	68502091	68502091	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:68502091G>A	uc010ujz.2	-	5	883	c.645C>T	c.(643-645)atC>atT	p.I215I	CLN6_uc002arf.3_Silent_p.I183I|CLN6_uc010ujy.2_Intron	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.	183					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGAAGAAGGGGATGTACCTGT	0.577000														67			18		0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1264431	1264431	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:1264431G>A	uc002fsj.3	-	3	685	c.533C>T	c.(532-534)tCc>tTc	p.S178F	YWHAE_uc002fsk.3_Missense_Mutation_p.S156F|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	178					G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GTAGAATACGGAAAAATTGAG	0.483000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome							82			14		0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49994286	49994286	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:49994286T>C	uc001ruo.3	-	3	1310	c.1137A>G	c.(1135-1137)atA>atG	p.I379M	FAM186B_uc010smk.2_Missense_Mutation_p.I289M	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	379						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTGTCCCGTATCATGGCCA	0.572000														69			14		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672621	141672621	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141672621G>A	uc003vwx.1	-	0	953	c.869C>T	c.(868-870)cCc>cTc	p.P290L		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	290					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ATGCCCAGAGGGACAAGCTGC	0.532000														53			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081262	3081262	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:3081262C>T	uc022aqr.1	-	27	4863	c.4473G>A	c.(4471-4473)ttG>ttA	p.L1491L	CSMD1_uc011kwj.2_Silent_p.L884L|CSMD1_uc003wqe.3_Silent_p.L648L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1492	CUB 9.					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)		TTTTGAATATCAAGGCGATGA	0.403000														88			6		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975117	44975117	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:44975117G>A	uc001wvn.3	-	0	1383	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	358	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTCTGAAGGGGACTCTTCAG	0.493000														100			40		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999499	8999499	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8999499C>T	uc002mkp.3	-	55	40880	c.40676G>A	c.(40675-40677)aGc>aAc	p.S13559N	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.S376N|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13561	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTCCAGGGCTTTTGGGATC	0.587000														101			21		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111409716	111409716	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:111409716C>T	uc003iab.4	+	1	1006	c.664C>T	c.(664-666)Cat>Tat	p.H222Y		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	222					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			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)	GGCCACCGATCATGAACCAAC	0.418000														21			5		0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64022864	64022864	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:64022864G>T	uc001dbf.3	+	9	1588	c.1294G>T	c.(1294-1296)Gaa>Taa	p.E432*		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	432	EF-hand 3.						calcium ion binding	p.F431fs*3(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TAATTTTTTTGAATTGAGAAC	0.289000														30			10		3.86212e-05	3.88863e-05	1	1	0
CC2D1A	54862	broad.mit.edu	37	19	14038072	14038072	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:14038072C>T	uc002mxo.2	+	21	2609	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	CC2D1A_uc002mxp.2_Silent_p.I770I|CC2D1A_uc010dzh.2_Silent_p.I339I|CC2D1A_uc002mxq.1_3'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	770					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCCGGGAGATCCTTGAGGTGA	0.547000														64			12		0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30915752	30915752	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:30915752G>A	uc001ivk.3	-	1	244	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	Homo sapiens lysozyme-like 2 (LYZL2), mRNA.	31					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CAGCCCTCGAGAATATTTTTG	0.507000														86			8		0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1904668	1904668	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1904668G>A	uc001lui.3	+	3	551	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	LSP1_uc001luj.3_Missense_Mutation_p.E254K|LSP1_uc001luk.3_Missense_Mutation_p.E64K|LSP1_uc001lul.3_Missense_Mutation_p.E64K|LSP1_uc001lum.3_Missense_Mutation_p.E64K	NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	126					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity	p.E64K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GCATGCCTACGAAAAGGAGGA	0.592000														44			5		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10625561	10625561	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:10625561G>A	uc002wnw.2	-	17	2810	c.2294C>T	c.(2293-2295)tCc>tTc	p.S765F	JAG1_uc010gcd.1_Missense_Mutation_p.S323F	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	765	EGF-like 14.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCACGTAAAGGACTCGCCGTT	0.592000									Alagille Syndrome					224			39		0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133313584	133313584	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:133313584G>A	uc001ukx.2	-	7	1555	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.S434S	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	496						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGGTCTGGGGACCACAGCT	0.642000														81			7		0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617711	100617711	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:100617711G>A	uc001vom.1	-	1	2161	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	638					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGCTGGAAGGGGTGTGGAGG	0.517000														133			6		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983134	57983134	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57983134G>A	uc010rkc.2	+	0	918	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ACAGCTTGAGGAATAAGGATA	0.438000														110			26		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21045351	21045351	+	Silent	SNP	G	A	A	rs143127393	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21045351G>A	uc010vbe.2	-	35	5142	c.5142C>T	c.(5140-5142)ggC>ggT	p.G1714G		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1714	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCTTGCCGCCCATGGGGT	0.498000														44			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635952	179635952	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179635952T>C	uc021vsy.1	-	33	8327	c.8102A>G	c.(8101-8103)aAa>aGa	p.K2701R	TTN_uc021vsz.1_Missense_Mutation_p.K2655R|TTN_uc021vta.1_Missense_Mutation_p.K2655R|TTN_uc021vtb.1_Missense_Mutation_p.K2655R|TTN_uc002unb.2_Missense_Mutation_p.K2701R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2701	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTTGAGTTTGGCAGATGT	0.383000														31			8		0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104163179	104163179	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104163179G>A	uc001dut.3	+	4	815	c.751G>A	c.(751-753)Gat>Aat	p.D251N		NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	251					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	CTAGGTAATTGATCTGGGTGG	0.343000														156			7		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980036	58980036	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58980036C>T	uc001nnu.4	-	0	459	c.303G>A	c.(301-303)ctG>ctA	p.L101L		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	101	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCCAGGATTCCAGGATTTCTG	0.453000														125			24		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023380	6023380	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6023380G>A	uc010qzv.2	-	0	999	c.999C>T	c.(997-999)atC>atT	p.I333I		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	281					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)		GGTGGTGCAGGATGTTGAGCA	0.507000														45			5		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907354	16907354	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16907354G>A	uc009vos.1	-	15	2365	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Nonsense_Mutation_p.Q222*	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	493	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGTGAGGCTGGTTGGAGTCA	0.488000														594			9		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27939619	27939619	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27939619C>T	uc001boj.3	-	10	1542	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	FGR_uc001boi.3_Missense_Mutation_p.E169K|FGR_uc001bok.3_Missense_Mutation_p.E466K|FGR_uc001bol.3_Missense_Mutation_p.E466K|FGR_uc001bom.3_Missense_Mutation_p.E466K	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	466	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.E466K(2)		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)		TCCAACACTTCCCGTTTATTC	0.622000														61			12		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7578550G>A	uc002gim.2	-	4	574	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_uc002gig.1_Missense_Mutation_p.S127F|TP53_uc002gih.3_Missense_Mutation_p.S127F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.S127F|TP53_uc010cnh.1_Missense_Mutation_p.S127F|TP53_uc002gij.2_Missense_Mutation_p.S127F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.S88F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(44)|p.S127Y(16)|p.Y126_K132delYSPALNK(12)|p.S127C(10)|p.Y126*(10)|p.0?(8)|p.S127T(6)|p.Y126N(6)|p.Y126_N131delYSPALN(6)|p.Y126D(5)|p.S127P(4)|p.Y126C(4)|p.A129fs*20(3)|p.S127_Q136del10(2)|p.S127fs*42(2)|p.Y126fs*11(2)|p.P128fs*42(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126fs*18(2)|p.S127fs*36(2)|p.Y126Y(1)|p.S127S(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*22(1)|p.Y126_S127insQPHH(1)|p.S34F(1)|p.?(1)|p.A36fs*20(1)|p.P13fs*18(1)|p.P128fs*18(1)|p.Y126fs*24(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)		GAGGGCAGGGGAGTACTGTAG	0.552000		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)				28			7		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60325955	60325955	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:60325955T>A	uc009wad.3	+	15	1589	c.1487T>A	c.(1486-1488)cTa>cAa	p.L496Q	HOOK1_uc001czo.3_Missense_Mutation_p.L496Q|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.L454Q	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	496	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CAGGAGCAGCTAGAACAGAAA	0.403000														147			44		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718621	25718621	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:25718621G>A	uc003xes.2	-	12	1551	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	429					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCTGCCATAGGAGTTGATTCC	0.493000														77			16		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107430421	107430421	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107430421C>T	uc004enw.4	-	22	1962	c.1859G>A	c.(1858-1860)gGa>gAa	p.G620E	COL4A6_uc004env.4_Missense_Mutation_p.G619E|COL4A6_uc011msn.2_Missense_Mutation_p.G619E|COL4A6_uc010npk.3_Missense_Mutation_p.G619E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	620	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			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						TAACCCATTTCCTGGGAGGCC	0.557000									Alport syndrome with Diffuse Leiomyomatosis					147			52		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487698	87487698	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:87487698C>T	uc001kdl.1	-	9	1548	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.E54K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	483						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGGTAAATCTCATATTTAAAG	0.542000										Multiple Myeloma(13;0.14)				133			12		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48888608	48888608	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48888608G>A	uc001rrr.3	+	7	401	c.270G>A	c.(268-270)atG>atA	p.M90I	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	90										endometrium(1)|large_intestine(4)	5						ATTCCTTGATGACCCCAAAGT	0.483000														103			6		0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111099079	111099079	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:111099079C>T	uc001trs.1	-	3	361	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	HVCN1_uc001trq.1_Missense_Mutation_p.E66K|HVCN1_uc001trt.1_Missense_Mutation_p.E66K|HVCN1_uc010syd.1_Missense_Mutation_p.E46K	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	66					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GCTCTGCCTTCCTCGCCTGAG	0.607000														52			7		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159567960	159567960	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:159567960G>A	uc003ipz.3	+	15	1626	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	RXFP1_uc010iqk.3_Missense_Mutation_p.G323R|RXFP1_uc011cja.2_Missense_Mutation_p.G350R|RXFP1_uc010iqo.3_Missense_Mutation_p.G407R|RXFP1_uc011cjb.2_Missense_Mutation_p.G353R|RXFP1_uc011cjc.2_Missense_Mutation_p.G374R|RXFP1_uc011cjd.2_Missense_Mutation_p.G374R|RXFP1_uc010iql.3_Missense_Mutation_p.G299R|RXFP1_uc011cje.2_Missense_Mutation_p.G482R|RXFP1_uc010iqm.3_Missense_Mutation_p.G422R|RXFP1_uc011cjf.2_Missense_Mutation_p.G324R|RXFP1_uc010iqn.3_Missense_Mutation_p.G400R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	455						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTGCTTAATGGGAATATATTT	0.358000														92			8		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428970	57428970	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57428970G>A	uc002xzw.3	+	0	935	c.650G>A	c.(649-651)aGc>aAc	p.S217N	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)			GGAGGCTACAGCCCTCCCCCT	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				13			5		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112229944	112229944	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:112229944A>G	uc001tst.3	+	7	971	c.875A>G	c.(874-876)aAc>aGc	p.N292S	ALDH2_uc010syi.2_Missense_Mutation_p.N245S	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	292					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)	AAGAGCCCCAACATCATCATG	0.582000			T	HMGA2	leiomyoma									52			6		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74275124	74275124	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:74275124C>T	uc003hgs.4	+	4	608	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.L69F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	179	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCCGGAACTCCTTTTCTTTGC	0.353000														47			9		0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30058624	30058624	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:30058624G>A	uc003tal.1	-	2	609	c.465C>T	c.(463-465)ctC>ctT	p.L155L	FKBP14_uc010kvq.1_Non-coding_Transcript	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	Homo sapiens FK506 binding protein 14, 22 kDa (FKBP14), mRNA.	155	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CATCTTTAGAGAGTTTCCAGT	0.348000														36			6		0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39271845	39271845	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39271845G>A	uc003ooo.3	-	3	717	c.576C>T	c.(574-576)ttC>ttT	p.F192F	KCNK17_uc003oop.3_Silent_p.F192F	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	192						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCAGCAGCAGGAAGAGCAGGA	0.657000														62			7		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94057008	94057008	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:94057008G>A	uc003ung.1	+	48	3808	c.3337G>A	c.(3337-3339)Gat>Aat	p.D1113N	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1113					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTTTGGTTACGATGGAGACTT	0.547000										HNSCC(75;0.22)				86			10		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26656577	26656577	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:26656577G>A	uc001mqt.4	+	19	2148	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	ANO3_uc010rdr.2_Missense_Mutation_p.G652E|ANO3_uc010rds.2_Missense_Mutation_p.G507E|ANO3_uc010rdt.2_Missense_Mutation_p.G522E	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	668						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						GGCCACCCAGGAAAATACAAT	0.448000														70			15		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322324	103322324	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103322324G>A	uc002tca.3	+	10	2139	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	666						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.S665F(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAACCTCCCGATATTTATCC	0.303000														35			5		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399728	10399728	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10399728C>T	uc002gmo.3	-	33	4889	c.4795G>A	c.(4795-4797)Gag>Aag	p.E1599K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1599						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.V1598M(1)|p.E1599V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCATGGACTCCACGATTCTA	0.443000														123			26		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1204906	1204906	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:1204906G>A	uc002qwq.3	+	8	838	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SNTG2_uc010ewi.3_Missense_Mutation_p.E110K	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	237					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.T236T(2)|p.T236M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AGCCGGAACGGAAAAATTAAG	0.537000														143			22		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147120155	147120155	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:147120155C>T	uc001epr.2	-	8	1500	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	346					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCAAAAATCCCCAGGGTCATT	0.483000														82			4		0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180056521	180056521	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:180056521G>A	uc002uni.4	-	1	198	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	16	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TACCTGAAAGGAAGGCTAGTT	0.299000														33			3		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404006	197404006	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197404006G>A	uc001gtz.3	+	8	3222	c.3013G>A	c.(3013-3015)Gat>Aat	p.D1005N	CRB1_uc010poz.2_Missense_Mutation_p.D981N|CRB1_uc009wza.3_Missense_Mutation_p.D893N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.D486N|CRB1_uc001gub.1_Missense_Mutation_p.D654N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1005	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						TAGCATTCAAGATTCCAGATT	0.363000														57			5		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747998	143747998	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143747998C>T	uc011ktw.2	+	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GGCTGCCCTTCTGTGGGCCCC	0.547000														231			16		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937378	82937378	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:82937378G>A	uc003kim.3	-	3	1073	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	HAPLN1_uc003kin.3_Silent_p.F334F	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	334	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.R333H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GGAAACCCACGAAGCGCACTG	0.522000														105			29		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175066578	175066578	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175066578G>A	uc001gkl.1	+	7	1727	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	538	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAACCTGGTGACTGACCGGG	0.507000														26			6		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103907109	103907109	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:103907109C>T	uc001kum.3	+	8	4399	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	PPRC1_uc001kun.3_Missense_Mutation_p.R1334W|PPRC1_uc010qqj.2_Intron|PPRC1_uc009xxa.3_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1454	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			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)		ATCCCGATCTCGGTCCAGGTC	0.582000														69			7		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53208000	53208000	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53208000C>T	uc001saz.3	-	0	65	c.65G>A	c.(64-66)aGg>aAg	p.R22K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGGCTTGGCCCTTGGCACAAG	0.537000														60			9		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82475933	82475933	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82475933G>A	uc003uhx.2	-	11	14070	c.13781C>T	c.(13780-13782)tCa>tTa	p.S4594L	PCLO_uc003uhv.2_Missense_Mutation_p.S4594L|PCLO_uc003uht.1_Missense_Mutation_p.S45L|PCLO_uc003uhu.1_Missense_Mutation_p.S24L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4482	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCAGAATCTGATAGCATATT	0.323000														7			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179445076	179445076	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179445076C>T	uc021vsy.1	-	265	59551	c.59326G>A	c.(59326-59328)Gaa>Aaa	p.E19776K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13471K|TTN_uc021vta.1_Missense_Mutation_p.E13404K|TTN_uc021vtb.1_Missense_Mutation_p.E13279K|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20703	Fibronectin type-III 43.						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)			ATGGTATATTCCTTTTTACCA	0.299000														130			8		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30913173	30913173	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:30913173G>A	uc010xbr.1	-	8	986	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	C18orf34_uc002kxn.2_Nonsense_Mutation_p.Q282*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.Q282*|C18orf34_uc002kxp.3_Nonsense_Mutation_p.Q282*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	282										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTCAGATCTTGAAGTTCCTGA	0.333000														38			9		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10996106	10996106	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:10996106C>T	uc002yis.1	-	11		c.2080G>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)		TTGCCCAGTTCGACTTCTTTG	0.413000														70			4		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47267432	47267432	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:47267432C>T	uc002xtw.1	-	23	2840	c.2817_splice	c.e23+1	p.E939_splice	PREX1_uc002xtv.1_Splice_Site_p.E236_splice	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	939					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACGCAGGCACCTCCTGGTAGC	0.567000														46			3		0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23381724	23381724	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:23381724C>T	uc003swg.3	-	9	1428	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	IGF2BP3_uc003swf.3_Missense_Mutation_p.G7R	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	388					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAAGGGGGCCCTGAGGTGGGA	0.483000														19			5		0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994303	45994303	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45994303C>T	uc002zfk.1	+	0	698	c.668C>T	c.(667-669)tCc>tTc	p.S223F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	223	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						ACCTCCTCCTCCTGCCAGCAG	0.637000														135			9		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10127734	10127734	+	Splice_Site	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10127734C>G	uc002mmr.3	+	2	353	c.104_splice	c.e2-1	p.V35_splice		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	35					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCCCCGCAGTCGTGGCCACCA	0.622000														12			5		0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148857891	148857891	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:148857891C>T	uc003ewu.1	+	1	458	c.318C>T	c.(316-318)atC>atT	p.I106I	HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_5'UTR	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	106						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGTGTGTATCCGAATGATTG	0.418000									Hermansky-Pudlak syndrome					124			30		0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052448	52052448	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:52052448C>T	uc003pak.1	+	1	120	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	25					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.G24E(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AGGCAGGAATCACAATCCCAC	0.478000														249			38		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49090503	49090503	+	Missense_Mutation	SNP	G	A	A	rs140526640		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49090503G>A	uc002pjl.3	+	2	313	c.232G>A	c.(232-234)Gag>Aag	p.E78K	SULT2B1_uc002pjm.3_Missense_Mutation_p.E63K	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	78					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTGGATGATCGAGATCATCTG	0.527000														43			13		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216465577	216465577	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:216465577G>A	uc001hku.1	-	9	2167	c.1780C>T	c.(1780-1782)Cct>Tct	p.P594S	USH2A_uc001hkv.3_Missense_Mutation_p.P594S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	594	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTCAAAAGGAAATGGGTCT	0.433000										HNSCC(13;0.011)				84			7		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10035153	10035153	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:10035153G>A	uc002wno.3	+	9	2471	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.G693E|ANKRD5_uc010gbz.3_Missense_Mutation_p.G504E	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	693							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						ACATCAGAGGGAAAGAAAGTA	0.333000														38			8		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101490340	101490340	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:101490340G>A	uc010svm.1	+	18	2337	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	ANO4_uc001thw.2_Missense_Mutation_p.E554K|ANO4_uc001thx.2_Missense_Mutation_p.E589K|ANO4_uc001thy.2_Missense_Mutation_p.E109K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	589						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTCTGAGTGGGAGAACAGCTT	0.478000										HNSCC(74;0.22)				70			6		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283059	69283059	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69283059C>T	uc004dxu.1	+	0	719	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	229	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GTCGCACGTCCTGAAGACCCC	0.612000														28			7		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178896971	178896971	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:178896971G>A	uc010iru.3	+	4		c.636G>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		AGAAGACAATGAGGTCAGCTA	0.428000														63			4		0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580598	77580598	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:77580598A>T	uc001xtd.3	+	3	1316	c.1137A>T	c.(1135-1137)ttA>ttT	p.L379F	KIAA1737_uc001xtc.1_Missense_Mutation_p.L281F	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	379										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGGCATCTTTAACACCTGGGT	0.498000														47			15		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021116	5021116	+	Missense_Mutation	SNP	C	T	T	rs139272622	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5021116C>T	uc010qyu.2	+	0	904	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R302C(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGCAGATTCGTCTAGGAAT	0.433000														54			10		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1739028	1739028	+	Silent	SNP	C	T	T	rs62285111	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:1739028C>T	uc003gdo.3	+	8	1964	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	TACC3_uc010ibz.3_Silent_p.F603F|TACC3_uc003gdp.3_Silent_p.F243F	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	603						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TTGTGGAGTTCGATTTCTTGG	0.537000														40			4		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244683	56244683	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56244683C>T	uc002qly.3	-	1	542	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	172	NACHT.					cytoplasm	ATP binding	p.G172R(2)		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)		CATAAGTTTCCCTCTGCCCAG	0.463000														53			7		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807488	143807488	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143807488A>T	uc011ktz.2	+	0	813	c.813A>T	c.(811-813)aaA>aaT	p.K271N		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGCAGGAGAAAATGCTGTCCC	0.522000														198			19		0	0	1	0	0
SMCR7L	54471	broad.mit.edu	37	22	39910160	39910160	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:39910160C>T	uc003axw.3	+	5	1721	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	SMCR7L_uc010gxz.1_Silent_p.F230F|SMCR7L_uc003axx.3_Silent_p.F408F|SMCR7L_uc003axy.3_Silent_p.F230F	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	408						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					CCGACCGTTTCCTGCAGGCCT	0.587000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			5		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186081	101186081	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:101186081G>A	uc001dti.3	+	1	335	c.114G>A	c.(112-114)caG>caA	p.Q38Q	VCAM1_uc010ouj.2_Silent_p.Q38Q|VCAM1_uc001dtj.3_Silent_p.Q38Q	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	38	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	p.A37A(1)		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)	ATCTTGCTCAGATTGGTGACT	0.433000														75			21		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17552625	17552625	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:17552625C>T	uc001bah.1	+	5	716	c.624C>T	c.(622-624)tcC>tcT	p.S208S		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	208					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TTTCTGATTCCAAAAGAGTGA	0.557000														84			24		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141331196	141331196	+	Splice_Site	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:141331196T>C	uc010huq.1	+	25	2604	c.2604_splice	c.e25+1		RASA2_uc003etz.1_Splice_Site|RASA2_uc003eua.1_Splice_Site	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAATATTATTTTTCTTGGAGC	0.308000														12			3		0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51462492	51462492	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51462492C>A	uc002puh.3	-	4	755	c.690G>T	c.(688-690)aaG>aaT	p.K230N	KLK6_uc010eoj.3_Missense_Mutation_p.R93M|KLK6_uc002pui.3_Missense_Mutation_p.K221N|KLK6_uc002puj.3_Missense_Mutation_p.K114N|KLK6_uc010ycn.2_Missense_Mutation_p.K114N|KLK6_uc002pul.3_Missense_Mutation_p.K221N|KLK6_uc002pum.3_Missense_Mutation_p.K114N	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	221	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.K221K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CTGGCTTCTCCTTTGATCCAC	0.537000														94			11		9.70103e-10	9.80338e-10	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64526861	64526861	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:64526861C>T	uc003dmg.3	-	35	5463	c.5431G>A	c.(5431-5433)Gat>Aat	p.D1811N	ADAMTS9_uc011bfo.2_Missense_Mutation_p.D1783N|ADAMTS9_uc011bfp.1_Missense_Mutation_p.D722N	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1811	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCAGTCATCGCGCCGGCTC	0.458000														74			11		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108833269	108833269	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108833269G>A	uc003dxl.3	-	1	168	c.81C>T	c.(79-81)ttC>ttT	p.F27F	MORC1_uc011bhn.2_Silent_p.F27F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.S26I(1)		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						CTCCAAAAAGGAAACTGTGAG	0.358000														17			7		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768661	31768661	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31768661C>T	uc002nsy.4	-	1	2103	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	680					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGCTCCCATCCTTGCACCCA	0.652000														54			6		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462028	10462028	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:10462028G>A	uc009zhi.3	+	1	309	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	KLRD1_uc001qxw.4_Missense_Mutation_p.G17R|KLRD1_uc001qxx.4_Missense_Mutation_p.G17R|KLRD1_uc001qxy.4_Intron|KLRD1_uc009zhh.3_Missense_Mutation_p.G17R|KLRD1_uc001qxz.4_Missense_Mutation_p.G17R			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	17					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGGGACCTTAGGGATAATATG	0.368000														46			6		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188328	72188328	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72188328C>T	uc002fcc.4	-	3	368	c.196G>A	c.(196-198)Gag>Aag	p.E66K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E66K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	66										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTGACTCCTCGAATGCTAAT	0.418000														74			14		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680128	43680128	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43680128G>A	uc002ovu.3	-	2	734	c.603C>T	c.(601-603)atC>atT	p.I201I	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.I201I	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	201	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTAGAATGAGGATCCTGTTTT	0.507000														182			26		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759922	196759922	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196759922C>A	uc002utj.4	-	29	4775	c.4674G>T	c.(4672-4674)ggG>ggT	p.G1558G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1558					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTAATTTTACCCCAGGAAACA	0.313000														44			5		0.0215528	0.021585	1	1	0
ZNF598	90850	broad.mit.edu	37	16	2050068	2050068	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2050068G>A	uc002cof.1	-	10	1497	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	494						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCCAGGCTTGGGCACCGAGG	0.687000														13			5		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687468	18687468	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:18687468C>T	uc003sui.3	+	8	1137	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	HDAC9_uc003sue.3_Missense_Mutation_p.P363S|HDAC9_uc011jyd.2_Missense_Mutation_p.P363S|HDAC9_uc003suh.3_Missense_Mutation_p.P363S|HDAC9_uc003suj.3_Missense_Mutation_p.P322S|HDAC9_uc011jya.2_Missense_Mutation_p.P361S|HDAC9_uc003sua.1_Missense_Mutation_p.P341S|HDAC9_uc003sud.2_Missense_Mutation_p.P363S|HDAC9_uc011jyc.2_Missense_Mutation_p.P322S|HDAC9_uc011jyb.2_Missense_Mutation_p.P319S|HDAC9_uc003suf.2_Missense_Mutation_p.P394S|HDAC9_uc010kud.2_Missense_Mutation_p.P366S|HDAC9_uc011jye.2_Missense_Mutation_p.P335S|HDAC9_uc011jyf.2_Missense_Mutation_p.P286S|HDAC9_uc010kue.1_Missense_Mutation_p.P106S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	363					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.P366S(3)|p.P361S(1)|p.P363S(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAAGGTGTTCCTCTGCCTGG	0.502000														19			4		0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61624528	61624528	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61624528G>A	uc001nsl.1	+	5	940	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	FADS2_uc001nsj.2_Missense_Mutation_p.E242K|FADS2_uc010rlo.1_Missense_Mutation_p.E233K|FADS2_uc001nsk.3_Missense_Mutation_p.E264K	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	264					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCACCAGCACGAATACTTCTT	0.567000														76			13		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29598955	29598955	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:29598955C>T	uc001usl.4	+	0	208	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	40						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						CCAATCAAATCATGTTGGAGG	0.413000														43			4		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462693	26462693	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26462693C>T	uc001isn.2	+	29	3860	c.3500C>T	c.(3499-3501)tCc>tTc	p.S1167F	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1167					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGAAGACTTCCACTTTCAAA	0.368000														33			10		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44069556	44069556	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:44069556C>T	uc001cjr.3	+	15	3073	c.2733C>T	c.(2731-2733)ccC>ccT	p.P911P	PTPRF_uc001cjs.3_Silent_p.P902P|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Silent_p.P471P|PTPRF_uc001cjv.3_Silent_p.P371P|PTPRF_uc001cjw.3_Silent_p.P137P	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	911					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.N911K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCAGGACCCCCGAGGACCTGC	0.632000														42			8		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10729698	10729698	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:10729698C>T	uc002czz.1	-	5	1236	c.1164G>A	c.(1162-1164)ctG>ctA	p.L388L		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	388					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P387L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGGCCACCTTCAGCGGGCCCT	0.622000														169			31		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152190933	152190933	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152190933C>T	uc001ezt.1	-	2	3248	c.3172G>A	c.(3172-3174)Gga>Aga	p.G1058R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1058					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGACTGTCCTGAGCGAGAC	0.562000														180			27		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597142	39597142	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39597142G>A	uc002hwq.1	-	0	455	c.32C>T	c.(31-33)cCt>cTt	p.P11L		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	11	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCAACCCAGAGGGCATGAGGA	0.577000														52			13		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36293111	36293111	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36293111G>A	uc002obx.1	-	9	1426	c.1408C>T	c.(1408-1410)Cac>Tac	p.H470Y		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	470					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAGAGACGTGGTCACACATG	0.562000														129			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181816	140181816	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140181816A>C	uc003lhf.2	+	0	1034	c.1034A>C	c.(1033-1035)gAt>gCt	p.D345A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.D345A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	360	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATCAATGATAATGTACCT	0.428000														59			7		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685663	108685663	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:108685663C>T	uc009zuw.3	-	2	1268	c.1077G>A	c.(1075-1077)atG>atA	p.M359I	CMKLR1_uc001tmw.3_Missense_Mutation_p.M359I|CMKLR1_uc001tmv.3_Missense_Mutation_p.M357I|CMKLR1_uc009zuv.3_Missense_Mutation_p.M359I|CMKLR1_uc021rdj.1_Missense_Mutation_p.M357I	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	359					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCCTCTCATTCATTGATGACA	0.502000														56			4		0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659177	50659177	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:50659177C>T	uc011mnw.2	+	1	798	c.749C>T	c.(748-750)cCc>cTc	p.P250L		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	250					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.P250F(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AAATTTCTTCCCAGGGGCATG	0.463000														14			7		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096471	1096471	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1096471G>A	uc001lsx.1	+	35	6511	c.6484G>A	c.(6484-6486)Gat>Aat	p.D2162N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4528						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTACCACTGCGATCCCAACGA	0.577000														97			6		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690583	77690583	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77690583G>A	uc003yau.2	+	3	3620	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	ZFHX4_uc003yaw.1_Missense_Mutation_p.R1052Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1052						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1078R(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)			GAGGGCCTACGGAAGCTCCAG	0.498000										HNSCC(33;0.089)				135			10		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791468	51791468	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51791468G>A	uc010ufy.2	-	17	4178	c.3953C>T	c.(3952-3954)tCt>tTt	p.S1318F	DMXL2_uc002abf.3_Missense_Mutation_p.S1318F|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1318						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)		AACATCATCAGAAATAGCTGT	0.393000														88			9		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627832	30627832	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30627832G>A	uc003nqz.3	-	9	1944	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	DHX16_uc003nqy.3_Missense_Mutation_p.P97S|DHX16_uc011dmo.2_Missense_Mutation_p.P518S	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	578					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						ATGTCCACAGGAAACCTGCGT	0.552000														164			8		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411015	5411015	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5411015G>A	uc010qzc.2	+	0	409	c.387G>A	c.(385-387)atG>atA	p.M129I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	129						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCCTCATGATGTCCTTTG	0.488000														234			42		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551666	1551666	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:1551666C>T	uc010gai.3	-	3	968	c.869G>A	c.(868-870)gGa>gAa	p.G290E	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	290	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGACACATTTCCATTCTCCAA	0.552000														85			17		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49341346	49341346	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49341346G>A	uc002pkx.3	-	18	2556	c.2005C>T	c.(2005-2007)Cac>Tac	p.H669Y	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc010eml.3_Missense_Mutation_p.S570L	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	669						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGCTCCCGGTGACCTTCGGAA	0.577000														76			8		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76470846	76470846	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:76470846A>G	uc003yaq.3	+	7	956	c.686A>G	c.(685-687)gAa>gGa	p.E229G	HNF4G_uc003yar.3_Missense_Mutation_p.E266G	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	229					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCATTTCAAGAAATCCAGATT	0.358000														176			14		0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150754173	150754174	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150754173_150754174CC>TT	uc003wir.2	-	1	228_229	c.111_112GG>AA	c.(109-114)ctggat>ctAAat	p.D38N	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Missense_Mutation_p.D38N|SLC4A2_uc022apz.1_5'Flank|SLC4A2_uc003wit.4_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	38	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCATCGTCATCCAGCCTCACCC	0.624000														228			10		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54867598	54867598	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54867598C>T	uc002qfk.1	-	8	992	c.682G>A	c.(682-684)Gga>Aga	p.G228R	LAIR1_uc002qfl.1_Missense_Mutation_p.G211R|LAIR1_uc002qfm.1_Missense_Mutation_p.G227R|LAIR1_uc002qfn.1_Missense_Mutation_p.G210R|LAIR1_uc010yex.2_Missense_Mutation_p.G221R|LAIR1_uc002qfo.3_Missense_Mutation_p.G210R	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	228						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCAGGAAGTCCATTGACTGTG	0.488000														77			8		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511439	61511439	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61511439G>A	uc002ydr.2	-	15	6181	c.5869C>T	c.(5869-5871)Cca>Tca	p.P1957S	DIDO1_uc002yds.2_Missense_Mutation_p.P1957S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1957	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGGGACCTGGCATAAAGTTA	0.587000														132			36		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93964514	93964514	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93964514C>T	uc003poe.3	-	14	2624	c.2383_splice	c.e14-1	p.G795_splice	EPHA7_uc003pof.3_Splice_Site_p.G790_splice|EPHA7_uc011eac.2_Splice_Site_p.G791_splice	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	795	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTTTTCCACCCTGTTATAAA	0.358000														23			3		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516931	157516931	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157516931C>T	uc009wsm.3	-	2	267	c.109G>A	c.(109-111)Gga>Aga	p.G37R	FCRL5_uc001fqu.3_Missense_Mutation_p.G37R|FCRL5_uc010phv.1_Missense_Mutation_p.G37R|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.G37R|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTCTCTCTCCTTGGAAGACT	0.493000														96			20		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42569530	42569530	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:42569530C>T	uc003clf.2	+	5	675	c.551C>T	c.(550-552)tCc>tTc	p.S184F	VIPR1_uc021wwl.1_Missense_Mutation_p.S143F|VIPR1_uc011azn.2_Missense_Mutation_p.S157F|VIPR1_uc011azl.1_Missense_Mutation_p.S136F|VIPR1_uc011azm.1_Intron	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	184					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTCTTCATATCCTTCATCCTG	0.617000														107			18		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132681737	132681737	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:132681737G>A	uc001ukc.4	-	10	1843	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	GALNT9_uc009zyr.3_Missense_Mutation_p.A350V|GALNT9_uc001ukb.3_Missense_Mutation_p.A433V|GALNT9_uc001uka.3_Missense_Mutation_p.A210V	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	576	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCAAAGTTGGCATCTTTGGA	0.632000														56			13		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504114	39504114	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:39504114G>A	uc003thb.2	+	10	2048	c.1905G>A	c.(1903-1905)caG>caA	p.Q635Q	POU6F2_uc022acb.1_Silent_p.Q599Q	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	635					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTCTGGGCAGGAAATGACCG	0.493000														21			5		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36089966	36089966	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:36089966C>A	uc004ddk.1	+	2	254	c.68C>A	c.(67-69)aCt>aAt	p.T23N		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	23						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CTTAAGAAGACTAGAGATGGT	0.373000														9			8		3.09899e-07	3.12764e-07	1	1	0
RIPK1	8737	broad.mit.edu	37	6	3085639	3085639	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:3085639C>T	uc010jni.3	+	5	1067	c.835C>T	c.(835-837)Cct>Tct	p.P279S	RIPK1_uc003muv.4_Missense_Mutation_p.P116S|RIPK1_uc003mux.3_Missense_Mutation_p.P279S|RIPK1_uc011dhs.2_Missense_Mutation_p.P233S	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	279	Protein kinase.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|positive regulation of interleukin-8 production|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCCGACATTTCCTGGTAAGAG	0.458000														31			6		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28878665	28878665	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:28878665C>T	uc001iuf.3	+	5	470	c.382_splice	c.e5-1	p.P128_splice	WAC_uc001iud.3_Splice_Site_p.P83_splice|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Splice_Site_p.P83_splice|WAC_uc001iug.3_Splice_Site_p.P128_splice|WAC_uc001iuh.3_Splice_Site_p.P83_splice	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	128					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TATTTTTAAGCCTTATGATTC	0.308000														73			5		0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39597622	39597622	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39597622C>T	uc002oki.3	+	11	1423	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	383						extracellular region	acid phosphatase activity|metal ion binding										TTGCTGTCTTCCCGAGGCCCT	0.642000														44			8		0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67570996	67570996	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:67570996C>T	uc021xae.1	-	4	508	c.480G>A	c.(478-480)cgG>cgA	p.R160R	SUCLG2_uc010hob.3_Silent_p.R41R|SUCLG2_uc003dna.4_Silent_p.R160R	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	160	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CATTGCAGGACCGGTCCATCA	0.502000														116			16		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040765	88040766	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:88040765_88040766GG>AA	uc003dqr.2	+	1	1024_1025	c.866_867GG>AA	c.(865-867)cgg>cAA	p.R289Q	HTR1F_uc021xbd.1_Missense_Mutation_p.R289Q	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	289					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.R289R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ACAAGAGAACGGAAAGCAGCCA	0.376000														27			3		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63901459	63901459	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:63901459C>T	uc002amp.3	-	77	14555	c.14407G>A	c.(14407-14409)Gac>Aac	p.D4803N	HERC1_uc002amo.3_Non-coding_Transcript	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4803	HECT.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCAGACTGTCGTAAGGCTGT	0.607000														19			5		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911374	54911374	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54911374C>T	uc001sgc.4	+	11	1232	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.R335C	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	385					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGGCTGGTTCGCCACACAGA	0.458000														53			4		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84472808	84472808	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84472808C>T	uc010chj.3	+	11	1112	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	ATP2C2_uc002fhx.3_Silent_p.I341I|ATP2C2_uc002fhy.3_Silent_p.I358I|ATP2C2_uc002fhz.3_Silent_p.I190I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	341					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCTGCCCATCGTCGTCATGG	0.567000														55			6		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233898927	233898927	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:233898927C>T	uc010zmn.2	+	1	303	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	101							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TCTTCCTCTTCTTCATTGCCA	0.637000														95			10		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467514	74467514	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:74467514C>T	uc002axg.1	+	1	597	c.315C>T	c.(313-315)ctC>ctT	p.L105L	ISLR_uc002axh.1_Silent_p.L105L|ISLR_uc021sqf.1_Silent_p.L105L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	105					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCTGGACCTCAGCCACAATC	0.607000														43			4		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711403	42711403	+	Missense_Mutation	SNP	G	A	A	rs45590635		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:42711403G>A	uc021xxv.1	+	6	871	c.734G>A	c.(733-735)gGa>gAa	p.G245E	GHR_uc003jmt.3_Missense_Mutation_p.G238E|GHR_uc003jmu.3_Missense_Mutation_p.G238E|GHR_uc003jmv.2_Missense_Mutation_p.G238E|GHR_uc021xxw.1_Missense_Mutation_p.G238E|GHR_uc021xxx.1_Missense_Mutation_p.G238E|GHR_uc021xxy.1_Missense_Mutation_p.G238E|GHR_uc021xxz.1_Missense_Mutation_p.G238E|GHR_uc021xya.1_Missense_Mutation_p.G238E|GHR_uc021xyb.1_Missense_Mutation_p.G238E|GHR_uc021xyc.1_Missense_Mutation_p.G238E|GHR_uc011cpq.2_Missense_Mutation_p.G51E|GHR_uc021xyd.1_Missense_Mutation_p.G216E	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	238	Fibronectin type-III.				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)	CGAAACTCTGGAAATTATGGC	0.373000														135			11		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198722	15198722	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15198722C>T	uc010xoe.2	+	0	846	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I282F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GGGTGTTCATCCCCATGCTCA	0.567000														35			5		0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957506	29957506	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:29957506A>G	uc003afx.4	-	5	823	c.568T>C	c.(568-570)Tac>Cac	p.Y190H	NIPSNAP1_uc011akp.2_Missense_Mutation_p.Y170H	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	190								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						TTGAGCTTGTATGTCCTCAGC	0.577000														91			26		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21938988	21938988	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21938988G>A	uc003svc.3	+	80	13136	c.13105G>A	c.(13105-13107)Gat>Aat	p.D4369N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4369					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						CCGAGAACTCGATACTTGGAC	0.502000									Kartagener syndrome					154			30		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27640068	27640069	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:27640068_27640069CC>TT	uc002dow.3	+	3	251_252	c.227_228CC>TT	c.(226-228)gcc>gTT	p.A76V		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	76										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCAACGGTGCCAATTCGGAGC	0.515000														127			13		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036196	88036196	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:88036196C>T	uc011ccz.2	+	11	2486	c.2211C>T	c.(2209-2211)gtC>gtT	p.V737V	AFF1_uc003hqj.4_Silent_p.V730V|AFF1_uc003hqk.4_Silent_p.V730V|AFF1_uc011cda.2_Silent_p.V368V	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	730						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCGTGGTGGTCCAGGAGGACA	0.617000														33			6		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76124553	76124553	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76124553C>T	uc010kbe.3	-	2	675	c.145G>A	c.(145-147)Gag>Aag	p.E49K	FILIP1_uc003phy.1_Missense_Mutation_p.E46K|FILIP1_uc003pia.3_Missense_Mutation_p.E46K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	46								p.D48N(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACATCATCCTCCTTCCTATTT	0.423000														168			26		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072391	234072391	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234072391C>T	uc010zmo.2	+	10	1345	c.1192C>T	c.(1192-1194)Ctc>Ttc	p.L398F	INPP5D_uc010zmp.2_Missense_Mutation_p.L397F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	427					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCCTGGTTTCTCTCCAAGGG	0.547000														96			31		0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010631	173010631	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173010631C>T	uc001giu.2	-	2	477	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	159					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATAAGTCCCTCCTACATTTTG	0.348000														47			15		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078262	111078262	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:111078262C>T	uc004epl.1	-	6	2702	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	TRPC5_uc004epm.1_Missense_Mutation_p.E595K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	595					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						TCGGTGAATTCGTGTCTGGCT	0.418000														241			73		0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23346017	23346017	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:23346017C>T	uc010gdb.3	+	2	1171	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	GZF1_uc002wsy.3_Silent_p.L333L|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Silent_p.L333L	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	333					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAAGAGCTTCCTGAAGCACAG	0.582000														104			24		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830498	61830498	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61830498C>T	uc001jky.3	-	36	10479	c.10141G>A	c.(10141-10143)Gaa>Aaa	p.E3381K	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.	3381					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						TGGGCAATTTCATTCTGAGGT	0.458000														68			11		0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152638131	152638131	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:152638131G>A	uc003iml.3	-	3	578	c.537C>T	c.(535-537)atC>atT	p.I179I	PET112_uc003imm.4_Silent_p.I179I	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	179						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCGTCTTGGGGATCACCTGAC	0.527000														119			25		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389170	20389170	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20389170C>T	uc010tkw.2	+	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTGGTCATCATGAGCCGAA	0.443000														456			18		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57340760	57340760	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57340760G>A	uc001cyo.2	+	2	442	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	104	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCAGTGTAAGGAGACAGGTGA	0.478000														24			3		0	0	1	0	0
SREK1	140890	broad.mit.edu	37	5	65460690	65460690	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:65460690C>T	uc003jun.3	+	6	1086	c.966C>T	c.(964-966)tcC>tcT	p.S322S	SREK1_uc010iwy.3_Silent_p.S206S|SREK1_uc003juo.3_Silent_p.S206S	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	206	Arg/Glu/Lys/Ser-rich.				RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GCTCAAAATCCCATTCTAGAA	0.338000														105			6		0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143956715	143956715	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143956715C>T	uc011kuc.2	-	0	7	c.7G>A	c.(7-9)Gac>Aac	p.D3N	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GTTATATTGTCCCCCATATCC	0.433000														109			18		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4247730	4247730	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:4247730G>A	uc003smx.3	+	37	5354	c.5215_splice	c.e37-1	p.I1739_splice	SDK1_uc010kso.3_Splice_Site_p.I995_splice|SDK1_uc003smy.3_Splice_Site_p.I226_splice	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1739	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTTCCTAACAGATTTACTACT	0.562000														76			7		0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32983440	32983440	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:32983440C>T	uc002rom.3	+	12	1807	c.1534C>T	c.(1534-1536)Cat>Tat	p.H512Y	TTC27_uc010ymx.2_Missense_Mutation_p.H462Y	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	512							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTCGGAGACCATTCTTGCTA	0.478000														110			9		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123101468	123101468	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123101468C>T	uc003vkn.3	-	10	2527	c.1950G>A	c.(1948-1950)caG>caA	p.Q650Q	IQUB_uc011kny.2_5'UTR|IQUB_uc003vko.3_Silent_p.Q650Q|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	650								p.Q649*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATAGTAGAGCTGTTGAAGTA	0.393000														69			7		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84606391	84606391	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:84606391T>G	uc004eer.2	-	4	651	c.505A>C	c.(505-507)Aca>Cca	p.T169P	POF1B_uc004ees.3_Missense_Mutation_p.T169P	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	169							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTCTTATTGTTTTTTCATAA	0.264000														14			5		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206842	58206842	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58206842G>A	uc010rkh.2	-	0	805	c.783C>T	c.(781-783)aaC>aaT	p.N261N		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N261I(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATGGCTGGAGTTAGGTCGTA	0.463000														39			3		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481133	228481133	+	Silent	SNP	G	A	A	rs140221070	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228481133G>A	uc009xez.1	+	40	10991	c.10947G>A	c.(10945-10947)ctG>ctA	p.L3649L	OBSCN_uc001hsn.3_Silent_p.L3649L|OBSCN_uc001hsq.1_Silent_p.L905L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3649	Ig-like 37.				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)				GGTGTGAGCTGAGCAAGATGG	0.602000														53			5		0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2943677	2943677	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:2943677C>T	uc001lwx.3	+	9	1196	c.978C>T	c.(976-978)tcC>tcT	p.S326S	SLC22A18_uc001lwy.3_Silent_p.S326S	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	326					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTGGATGTCCAGCGTCTTCC	0.662000														18			4		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15661699	15661699	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:15661699C>T	uc001rcv.2	+	6	1932	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	PTPRO_uc001rcw.2_Nonsense_Mutation_p.Q488*|PTPRO_uc001rcu.2_Nonsense_Mutation_p.Q488*	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	488	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTACTGCACTCAGGTAAAGGA	0.512000														28			4		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62193672	62193672	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62193672C>A	uc002yfm.2	-	9	7258	c.6366G>T	c.(6364-6366)ctG>ctT	p.L2122L	PRIC285_uc002yfl.1_Silent_p.L1553L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2122					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGGCCGGCCCAGTGCGATGC	0.677000														26			10		1.61879e-10	1.63658e-10	1	1	0
CYP4F3	4051	broad.mit.edu	37	19	15769547	15769547	+	Missense_Mutation	SNP	C	T	T	rs141482165		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15769547C>T	uc010xok.2	+	11	1375	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	CYP4F3_uc010xol.2_Missense_Mutation_p.P442L|CYP4F3_uc002nbj.3_Missense_Mutation_p.P442L|CYP4F3_uc010xom.2_Missense_Mutation_p.P293L|CYP4F3_uc002nbk.3_Missense_Mutation_p.P442L|CYP4F3_uc010xon.2_Missense_Mutation_p.P152L	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	442					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						GTCTATGACCCCTTTCGCTTT	0.587000														138			27		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38825330	38825330	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38825330G>A	uc021yzh.1	+	41	5879	c.5770G>A	c.(5770-5772)Gat>Aat	p.D1924N	DNAH8_uc003ooe.2_Missense_Mutation_p.D1707N	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						GTGGACACACGATTCAGAAGA	0.343000														59			6		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884261	228884261	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228884261C>T	uc002vpq.2	-	6	1356	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D437N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D437N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	437						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCACTGTATCTTTTGTGGAA	0.473000														72			7		0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49292128	49292128	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:49292128G>A	uc001zxe.2	-	15	2569	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	SECISBP2L_uc001zxd.2_Missense_Mutation_p.P724S|SECISBP2L_uc010bep.2_Missense_Mutation_p.P531S	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	769										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AACACAAAAGGAATTTCTTGT	0.463000														53			9		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50943284	50943284	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:50943284C>T	uc003blp.2	-	9	1415	c.1384G>A	c.(1384-1386)Ggt>Agt	p.G462S	LMF2_uc003blo.2_Missense_Mutation_p.G437S	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	462						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCGTCCACCAAGCCCAGTC	0.711000														20			5		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115413821	115413821	+	Missense_Mutation	SNP	C	T	T	rs141144397		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:115413821C>T	uc001lal.3	-	4	588	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	NRAP_uc001laj.3_Missense_Mutation_p.E142K|NRAP_uc001lak.3_Missense_Mutation_p.E142K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	142						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)		CTTACAATTTCGGGGTCTGGC	0.458000														193			19		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44869822	44869822	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44869822G>A	uc002xrm.2	-	1	729	c.330C>T	c.(328-330)ttC>ttT	p.F110F	CDH22_uc010ghk.1_Silent_p.F110F	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	110	Cadherin 1.				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)				CGTCGATCAGGAAGATGGTCC	0.617000														30			8		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582559	55582559	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:55582559C>T	uc010qhy.1	-	34	5343	c.4948G>A	c.(4948-4950)Gaa>Aaa	p.E1650K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1645K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1620K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1640K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1603K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1574K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1645K|PCDH15_uc010qia.1_Missense_Mutation_p.E1623K|PCDH15_uc001jju.1_Missense_Mutation_p.E1643K|PCDH15_uc010qib.1_Missense_Mutation_p.E1620K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1643					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)				ATCAGTGTTTCACCTTGCCTT	0.408000										HNSCC(58;0.16)				82			18		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43023318	43023318	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43023318G>A	uc002otv.3	-	4	1163	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.S343F|CEACAM1_uc002otw.3_Missense_Mutation_p.S343F|CEACAM1_uc002otx.3_Intron|CEACAM1_uc002oty.3_Intron|CEACAM1_uc002otz.3_Intron|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Missense_Mutation_p.S343F|CEACAM1_uc002oub.3_Intron	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	343	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CAGGTTCACAGAGTCCTTATC	0.498000														113			15		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2189823	2189824	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:2189823_2189824CC>TT	uc001lvq.3	-	3	496_497	c.477_478GG>AA	c.(475-480)ctggag>ctAAag	p.E160K	TH_uc001lvp.3_Missense_Mutation_p.E156K|TH_uc001lvr.3_Missense_Mutation_p.E129K|TH_uc010qxj.2_Missense_Mutation_p.E133K|TH_uc001lvs.3_Missense_Mutation_p.E129K|TH_uc001lvt.3_Missense_Mutation_p.E133K|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	160					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)	ACGAAGTACTCCAGGTGGGGGC	0.668000														21			3		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053200	17053200	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:17053200C>T	uc011awc.2	+	2	2434	c.2338C>T	c.(2338-2340)Cat>Tat	p.H780Y	PLCL2_uc011awd.2_Missense_Mutation_p.H662Y	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	788	C2.				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						TGTTGAAATCCATGGAATCCC	0.418000														25			3		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189850466	189850466	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189850466C>T	uc002uqj.1	+	3	526	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	137					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCTCCTGGCCCCCCTGGAAT	0.433000														26			9		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132516578	132516578	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:132516578C>T	uc001ujn.3	+	29	5987	c.5835C>T	c.(5833-5835)aaC>aaT	p.N1945N	EP400_uc021rgq.1_Silent_p.N1944N|EP400_uc001ujm.3_Silent_p.N1864N	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1981	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGTATAAACCTTGTAGAGG	0.473000														120			21		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813361	106813361	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:106813361C>T	uc003ymd.3	+	7	1074	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	ZFPM2_uc011lhs.2_Missense_Mutation_p.H82Y	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	351					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATCAACTTTCACCAACACCT	0.493000														152			16		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170201210	170201210	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:170201210G>A	uc003fgz.2	-	5	1324	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	336						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGCCACTACGAATTTGGCAG	0.532000											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			12		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809495	48809495	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:48809495C>T	uc002rwp.2	+	1	1837	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P575S|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P575S|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P575S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	575					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTCCTGTCCCATCGCAGTG	0.498000														72			4		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88123611	88123611	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:88123611G>A	uc003plv.3	+	3	399	c.276G>A	c.(274-276)acG>acA	p.T92T	C6orf165_uc003plu.2_Silent_p.T92T|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	92										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGAATTATACGAATCGAGGTA	0.328000														34			3		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50540483	50540483	+	Missense_Mutation	SNP	G	A	A	rs143418383		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:50540483G>A	uc001zxz.3	-	9	1441	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	HDC_uc001zxy.3_Missense_Mutation_p.R110W|HDC_uc010uff.2_Intron	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	367					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCGAAGGACCGAATCACGAAC	0.522000														27			7		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665265	6665265	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6665265G>A	uc002mfk.2	-	4	777	c.395C>T	c.(394-396)gCc>gTc	p.A132V	TNFSF14_uc002mfj.2_Missense_Mutation_p.A96V	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	132					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GACCACAAGGGCCCCATCGTG	0.662000														31			7		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067619	190067619	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:190067619C>T	uc001gse.1	-	7	2062	c.1830G>A	c.(1828-1830)tgG>tgA	p.W610*	FAM5C_uc010pot.1_Nonsense_Mutation_p.W508*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	610						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)					GAGTTAATGTCCAGTTATAAC	0.468000														194			46		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975306	118975306	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:118975306C>T	uc003ibx.3	+	1	644	c.241C>T	c.(241-243)Cta>Tta	p.L81L	NDST3_uc011cgf.1_Silent_p.L81L|NDST3_uc003ibw.3_Silent_p.L81L	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	81	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCCCACAGTCCTAGTATTTGT	0.418000														71			6		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233350	43233350	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43233350C>T	uc002oue.3	-	4	1300	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Missense_Mutation_p.G390R	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	390	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.G390W(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCATAGAGCCCGCTATGCTTT	0.468000														259			16		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092370	132092370	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:132092370G>A	uc011mvd.1	-	1	677	c.261C>T	c.(259-261)ttC>ttT	p.F87F	HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mve.1_Silent_p.F87F	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	87						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ACAGCAGCGCGAAAAGCGGGG	0.726000														14			3		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793757	13793757	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13793757G>A	uc003jfd.2	-	48	8133	c.8091C>T	c.(8089-8091)atC>atT	p.I2697I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2697	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGATGTCCACGATGCTGGTGA	0.448000									Kartagener syndrome					83			5		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33026409	33026409	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:33026409C>T	uc010geu.1	+	8	967	c.775C>T	c.(775-777)Cca>Tca	p.P259S	ITCH_uc002xak.2_Missense_Mutation_p.P218S|ITCH_uc010zuj.1_Missense_Mutation_p.P108S	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	259	Arg/Pro-rich (PRR domain).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACCTTCACGACCACCACCACC	0.463000														86			15		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246729	7246729	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7246729G>A	uc002ggd.2	+	5	582	c.376G>A	c.(376-378)Gat>Aat	p.D126N		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	126	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGCTCGCCGGGATTTCTGGCG	0.632000														84			12		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975487	51975487	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51975487G>A	uc002abh.3	+	3	656	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	85					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACAGAAAAGGAAAAAATTGA	0.373000														131			33		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540336	55540336	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55540336C>T	uc003xsd.1	+	3	4042	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1298					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)			AGGCTTGTTTCCTAGGAGAGG	0.413000														130			16		0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49218583	49218583	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49218583G>A	uc001jgd.3	-	7	1715	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TTCCCTCGTGGACTTTATTGA	0.532000														43			8		0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249151506	249151506	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:249151506G>A	uc001ifc.2	-	3	613	c.402C>T	c.(400-402)ccC>ccT	p.P134P	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Silent_p.P139P|ZNF692_uc001iff.2_Silent_p.P134P	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGGCTGGCTTGGGTGCCTCTG	0.602000														80			12		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003249	122003249	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:122003249C>T	uc003eew.4	+	6	2916	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	CASR_uc003eev.4_Silent_p.I816I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	816					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTTCTTCATCGTCTGGATCT	0.522000														79			12		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178269	39178269	+	Silent	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:39178269A>T	uc004abi.3	-	4	866	c.627T>A	c.(625-627)tcT>tcA	p.S209S	CNTNAP3_uc004abj.3_Silent_p.S209S|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.S209S|CNTNAP3_uc011lqs.1_Silent_p.S209S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	209	Laminin G-like 1.				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)		TAAATTTCAAAGAAATAACGT	0.343000														68			17		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401369	34401369	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34401369G>A	uc001bxm.1	-	3	881	c.704C>T	c.(703-705)tCc>tTc	p.S235F	CSMD2_uc001bxn.1_Missense_Mutation_p.S195F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	195	CUB 2.					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)				ACCTCTGCAGGAAGGCAGGGG	0.627000														24			12		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105179309	105179309	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105179309C>T	uc004emd.3	+	20	3950	c.3647C>T	c.(3646-3648)tCt>tTt	p.S1216F	NRK_uc010npc.1_Missense_Mutation_p.S884F	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1216	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCTGTGGTTCTTTGTGGGGT	0.343000										HNSCC(51;0.14)				27			5		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414721	105414721	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:105414721G>A	uc010axc.1	-	6	7187	c.7067C>T	c.(7066-7068)tCc>tTc	p.S2356F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S2256F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2356						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)			CCCCTGCATGGAGGGGAGGCT	0.617000														166			49		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570256	61570256	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61570256C>T	uc010xeu.2	+	8	1298	c.965C>T	c.(964-966)tCc>tTc	p.S322F	SERPINB2_uc002ljo.3_Missense_Mutation_p.S322F|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	322					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAACTCAGATCCATTCTGAGA	0.453000														71			10		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650959	94650959	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94650959G>A	uc001dqj.4	-	16	2228	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.S186F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	620					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)		TTTCGTGGGGGATCTCAATTT	0.398000														60			11		0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099316	4099316	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:4099316G>A	uc003mwa.4	+	2	936	c.168G>A	c.(166-168)ccG>ccA	p.P56P	C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Silent_p.P56P|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	56										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCCAAAGCCGAACAGAATGC	0.418000														61			14		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683289	48683289	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48683289G>A	uc002irk.1	+	22	4699	c.4327G>A	c.(4327-4329)Ggc>Agc	p.G1443S	CACNA1G_uc002iri.1_Missense_Mutation_p.G1443S|CACNA1G_uc002irj.1_Missense_Mutation_p.G1420S|CACNA1G_uc002irl.1_Missense_Mutation_p.G1420S|CACNA1G_uc002irm.1_Missense_Mutation_p.G1420S|CACNA1G_uc002irn.1_Missense_Mutation_p.G1420S|CACNA1G_uc002iro.1_Missense_Mutation_p.G1420S|CACNA1G_uc002irp.1_Missense_Mutation_p.G1443S|CACNA1G_uc002irq.1_Missense_Mutation_p.G1420S|CACNA1G_uc002irr.1_Missense_Mutation_p.G1443S|CACNA1G_uc002irs.1_Missense_Mutation_p.G1443S|CACNA1G_uc002irt.1_Missense_Mutation_p.G1443S|CACNA1G_uc002iru.1_Missense_Mutation_p.G1420S|CACNA1G_uc002irv.1_Missense_Mutation_p.G1443S|CACNA1G_uc002irw.1_Missense_Mutation_p.G1420S|CACNA1G_uc002irx.1_Missense_Mutation_p.G1356S|CACNA1G_uc002iry.1_Missense_Mutation_p.G1356S|CACNA1G_uc002isg.1_Missense_Mutation_p.G1356S|CACNA1G_uc002ish.1_Missense_Mutation_p.G1356S|CACNA1G_uc002isi.1_Missense_Mutation_p.G1333S|CACNA1G_uc002irz.1_Missense_Mutation_p.G1356S|CACNA1G_uc002isa.1_Missense_Mutation_p.G1356S|CACNA1G_uc002isd.1_Missense_Mutation_p.G1356S|CACNA1G_uc002isb.1_Missense_Mutation_p.G1356S|CACNA1G_uc002isc.1_Missense_Mutation_p.G1356S|CACNA1G_uc002ise.1_Missense_Mutation_p.G1356S|CACNA1G_uc002isf.1_Missense_Mutation_p.G1356S|CACNA1G_uc002isj.3_Missense_Mutation_p.G167S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1443					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)	CGTGTGCCAGGGCGAGGATAC	0.547000														38			4		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799774	159799774	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159799774C>T	uc001fue.4	+	1	369	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	53						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GGCGATCTCTCTGGCCTTCAG	0.617000														224			20		0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130744046	130744046	+	Silent	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:130744046A>C	uc010htm.1	-	2	312	c.105T>G	c.(103-105)ctT>ctG	p.L35L	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Silent_p.L35L|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	35					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GACGGTGGAAAAGAGCATAAC	0.388000														111			37		0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736789	24736789	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:24736789G>A	uc001rgb.1	-	0		c.314C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		AAGCCCTCCAGGTCCATGGAG	0.567000														44			4		0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032779	74032779	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:74032779G>A	uc002avy.3	-	1	706	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	121								p.P121S(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGTCCGAGGGGGTAGAGACG	0.637000														126			17		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689390	181689390	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:181689390G>A	uc009wxt.3	+	13	1995	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	CACNA1E_uc001gow.3_Missense_Mutation_p.M600I|CACNA1E_uc009wxs.3_Missense_Mutation_p.M600I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	600					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAGCTCAATGAAGTCTATCA	0.468000														32			5		0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216965075	216965075	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:216965075C>T	uc010zjr.2	+	3	1030	c.704C>T	c.(703-705)tCg>tTg	p.S235L	TMEM169_uc010zjs.2_Missense_Mutation_p.S235L|TMEM169_uc002vfw.3_Missense_Mutation_p.S235L|TMEM169_uc002vfv.4_Missense_Mutation_p.S235L	NM_001142310	NP_612399	Q96HH4	TM169_HUMAN	Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA.	235						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCAGCTCTCGTGGTCCTGG	0.582000														124			23		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686833	54686833	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54686833G>A	uc009znk.3	-	1	957	c.447C>T	c.(445-447)tcC>tcT	p.S149S	NFE2_uc001sfq.3_Silent_p.S149S|NFE2_uc001sfr.4_Silent_p.S149S|NFE2_uc009znl.3_Silent_p.S149S	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	149	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TATAGTTGAGGGATAATCCTG	0.572000														118			19		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235794	3235794	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:3235794C>T	uc004crg.4	-	5	6085	c.5928G>A	c.(5926-5928)ggG>ggA	p.G1976G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1976	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGCTGGGGTCCCTTTGGCCA	0.592000														26			7		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416102	82416102	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82416102G>A	uc001dit.4	+	6	1609	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.G476G|LPHN2_uc001div.3_Silent_p.G476G|LPHN2_uc009wcd.3_Silent_p.G476G|LPHN2_uc001diw.3_Silent_p.G47G	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	476					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.G476R(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTCCAAGGGGATAAAGTGGC	0.418000														43			20		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56435994	56435994	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56435994G>A	uc010ygg.2	-	2	444	c.419C>T	c.(418-420)cCa>cTa	p.P140L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	140							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)		TTCTTGGTTTGGATCTTGGCA	0.423000														51			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834644	61834644	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61834644C>T	uc001jky.3	-	36	6333	c.5995G>A	c.(5995-5997)Gaa>Aaa	p.E1999K	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.	1999					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						TGTCTGGCTTCCCGGATTTCT	0.448000														49			6		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780930	94780930	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94780930G>T	uc001ycv.3	-	1	160	c.56C>A	c.(55-57)aCc>aAc	p.T19N	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	19					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGCCTGGACGGTCCAGAGGCC	0.542000														114			21		3.62473e-10	3.66377e-10	1	1	0
DTX1	1840	broad.mit.edu	37	12	113533172	113533172	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:113533172G>A	uc001tuk.1	+	7	1927	c.1591G>A	c.(1591-1593)Gga>Aga	p.G531R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	531					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CACCGCAAGAGGATTCCCTCG	0.612000														67			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196671484	196671484	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196671484G>A	uc002utj.4	-	53	10257	c.10156C>T	c.(10156-10158)Cgt>Tgt	p.R3386C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3386			R -> H (in dbSNP:rs6708527).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3386H(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCAAGCAACGAATAATAAGC	0.393000														48			3		0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89554233	89554233	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:89554233G>A	uc003pmr.2	-	10	1332	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	RNGTT_uc003pms.2_Missense_Mutation_p.P371L|RNGTT_uc011dzu.1_Missense_Mutation_p.P311L|RNGTT_uc003pmt.2_Missense_Mutation_p.P371L	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	371	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		ATCTCCAACGGGCTGTGACTG	0.338000														75			5		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34123618	34123618	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34123618C>T	uc001bxm.1	-	26	4552	c.4375G>A	c.(4375-4377)Gga>Aga	p.G1459R	CSMD2_uc001bxn.1_Missense_Mutation_p.G1419R|CSMD2_uc001bxo.1_Missense_Mutation_p.G332R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1419	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCTGCACTTCCCTGCAGCGCG	0.592000														108			9		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048917	143048917	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143048917G>A	uc003wcr.1	+	22	2913	c.2826G>A	c.(2824-2826)ctG>ctA	p.L942L	CLCN1_uc011ktc.1_Silent_p.L554L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	942					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCTCTCCCTGGCCCCAGGCA	0.662000														65			7		0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43257723	43257723	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43257723G>A	uc002xmj.3	-	2	311	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	61					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	ACTTGGCCAGGAAGTCTGGAA	0.567000									Adenosine Deaminase Deficiency					104			15		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940120	31940120	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31940120G>A	uc003nyv.3	+	1	390	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.E45K|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.E88K|STK19_uc011dox.1_Missense_Mutation_p.E45K|STK19_uc003nyw.3_Missense_Mutation_p.E88K|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	88						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E88K(2)		skin(5)|upper_aerodigestive_tract(2)	7						CTCTGCGCCGGAAGACCCTAT	0.582000														117			6		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111215758	111215758	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:111215758C>T	uc001dzv.1	-	0	1898	c.1674G>A	c.(1672-1674)acG>acA	p.T558T		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	558						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTATTGTTCGTGGTGCAGG	0.458000														92			25		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14706183	14706183	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:14706183C>T	uc001rcc.1	-	1	440	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	93					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTCATTGCTCAGGGTTTGAG	0.522000														21			4		0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72608825	72608825	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72608825C>T	uc002jlb.2	-	3	722	c.585G>A	c.(583-585)gtG>gtA	p.V195V		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	195						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGCCTGTTCACCCAGAAGA	0.632000														92			7		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103270444	103270444	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103270444G>A	uc022ajr.1	-	19	2805	c.2645C>T	c.(2644-2646)tCt>tTt	p.S882F	RELN_uc022ajq.1_Missense_Mutation_p.S882F|RELN_uc010liz.3_Missense_Mutation_p.S882F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	882					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)		GAATCCCAGAGACTGAGTGAC	0.413000														88			37		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138644168	138644168	+	Missense_Mutation	SNP	G	A	A	rs137852267		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:138644168G>A	uc004fas.1	+	7	1353	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	F9_uc004fat.1_Missense_Mutation_p.G404R	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	442	Peptidase S1.		G -> E (in HEMB).|G -> R (in HEMB; severe; Angers).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGGCAAATATGGAATATATAC	0.398000														55			5		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725508	87725508	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:87725508C>T	uc003pli.3	+	1	1159	c.456C>T	c.(454-456)ttC>ttT	p.F152F	HTR1E_uc021zcg.1_Silent_p.F152F	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	152					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTCCATTTTCATCTCCATGC	0.552000														77			10		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880946	70880946	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:70880946C>T	uc003tvy.3	+	3	661	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	221	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTAAGAAATCAGAAGAGGGA	0.557000														31			7		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725533	55725533	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55725533G>A	uc010spj.2	+	0	49	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CCTTTCTGATGATCCTGACCT	0.398000														60			9		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37586469	37586469	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:37586469C>T	uc002yvg.3	+	7	1074	c.995C>T	c.(994-996)tCc>tTc	p.S332F	DOPEY2_uc011aeb.2_Missense_Mutation_p.S332F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	332					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAAAATACTCCAAGGATCTT	0.398000														56			5		0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253991	55253991	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:55253991T>C	uc002rye.3	-	2	1542	c.1244A>G	c.(1243-1245)aAc>aGc	p.N415S	RTN4_uc002ryd.3_Missense_Mutation_p.N209S|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	415					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ACTTTCCAAGTTGCTCTCGAT	0.383000														189			18		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582810	82582810	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82582810G>A	uc003uhx.2	-	4	7748	c.7459C>T	c.(7459-7461)Cct>Tct	p.P2487S	PCLO_uc003uhv.2_Missense_Mutation_p.P2487S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2418					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTAGGAGGAACAGGAGGA	0.468000														62			6		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158606494	158606494	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158606494C>T	uc001fst.1	-	36	5446	c.5247G>A	c.(5245-5247)caG>caA	p.Q1749Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1749					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCAAGTTCTGAACCCCCT	0.468000														108			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434129	179434129	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179434129C>T	uc021vsy.1	-	274	69251	c.69026G>A	c.(69025-69027)gGa>gAa	p.G23009E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16704E|TTN_uc021vta.1_Missense_Mutation_p.G16637E|TTN_uc021vtb.1_Missense_Mutation_p.G16512E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23936	Fibronectin type-III 67.						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)			CGTATATTTTCCACTATCATA	0.428000														65			12		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767176	57767176	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57767176G>A	uc002yan.3	+	0	1102	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	368						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGCCTTTCGGAGCACAGCGC	0.756000														23			11		0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25077568	25077568	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:25077568C>T	uc001wpr.1	-	1	151	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	GZMH_uc010aly.1_Missense_Mutation_p.A36T|GZMH_uc010alz.1_Missense_Mutation_p.A36T	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	36	Peptidase S1.				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)		TGAACAAAGGCCATGTAGGGG	0.552000														194			14		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567272	4567272	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4567272C>T	uc010qyf.2	+	0	852	c.852C>T	c.(850-852)ctC>ctT	p.L284L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCTATCTCCTCATTCCTC	0.463000														64			5		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982115	93982115	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93982115C>T	uc003poe.3	-	5	1591	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	EPHA7_uc003pof.3_Missense_Mutation_p.M450I|EPHA7_uc011eac.2_Missense_Mutation_p.M450I	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	450	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCTCTCCTTCATTACTCCAC	0.438000														102			8		0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012200	160012200	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160012200C>T	uc001fuw.2	-	1	363	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	41						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	p.M41I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAATGTGCTCCATTCTCACGT	0.547000														105			13		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116279	9116279	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:9116279G>A	uc010rbv.1	+	0		c.370G>A								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		AGCTGGAGGTGAACCCCAACA	0.597000														35			5		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47467581	47467581	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:47467581G>A	uc003crh.1	-	6	1071	c.816C>T	c.(814-816)gtC>gtT	p.V272V	SCAP_uc011baz.1_Silent_p.V17V|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	272					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGTGCACGTGGACCAGGCTCT	0.607000														32			6		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158060056	158060056	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:158060056G>A	uc003ipj.2	+	6	908	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	GLRB_uc021xtp.1_Missense_Mutation_p.E236K|GLRB_uc021xtq.1_Missense_Mutation_p.E236K	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	236					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TATCAAAAAGGAAGATATTGA	0.299000														32			9		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50498369	50498369	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:50498369C>T	uc001rvz.3	+	1	87	c.54C>T	c.(52-54)atC>atT	p.I18I	GPD1_uc010smp.1_Silent_p.I18I|GPD1_uc001rwa.3_Silent_p.I18I	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	18					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GCTCAGCCATCGCCAAGATCG	0.597000														59			11		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147966	27147966	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:27147966G>A	uc011jzl.2	-	2	1100	c.900C>T	c.(898-900)ccC>ccT	p.P300P	HOXA3_uc003syk.3_Silent_p.P300P	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	300					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TACCCTGGGGGGGCTTGGAGA	0.716000														28			10		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306202	54306202	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:54306202G>A	uc021smr.1	+	0	1102	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	UNC13C_uc021sms.1_Missense_Mutation_p.D368N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	368					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R367*(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACACCAGAGAGACTGCCCAAA	0.388000														56			5		0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684891	80684891	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:80684891C>T	uc002kfu.3	+	5	824	c.774C>T	c.(772-774)tcC>tcT	p.S258S	FN3KRP_uc010wvr.2_Silent_p.S208S	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	Homo sapiens fructosamine 3 kinase related protein (FN3KRP), mRNA.	258							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTAGCAGCTCCTTTTACTCCG	0.512000														89			6		0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12923586	12923586	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:12923586C>T	uc021qdx.1	+	9	1419	c.799C>T	c.(799-801)Cct>Tct	p.P267S	TEAD1_uc001mkk.4_Missense_Mutation_p.P171S|TEAD1_uc009ygl.3_Intron	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	267	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGACAAATTTCCTGAAAAGAA	0.428000														196			14		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14891492	14891493	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrY:14891492_14891493CC>TT	uc004fst.1	+	21	4008_4009	c.3063_3064CC>TT	c.(3061-3066)ttcctt>ttTTtt	p.L1022F	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	1022					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACATCTCTTTCCTTTGGCAAGT	0.356000														44			7		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40979842	40979842	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:40979842A>G	uc003jmh.3	+	16	2295	c.2181A>G	c.(2179-2181)gtA>gtG	p.V727V	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	727	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCTTGGATGTATGTGCTCAAG	0.393000														42			5		0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822543	121822543	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121822543G>A	uc003eet.3	+	2	377	c.249G>A	c.(247-249)atG>atA	p.M83I	CD86_uc011bjo.2_Missense_Mutation_p.M1I|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.M77I|CD86_uc021xcz.1_Missense_Mutation_p.M77I	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	83	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CCAAGTATATGGGCCGCACAA	0.418000														93			25		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993389	140993389	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140993389C>T	uc004fbt.3	+	3	523	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	67							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)					CTCGGATCCTCTCCAGAGACC	0.582000										HNSCC(15;0.026)				101			9		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418267	38418267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38418267C>T	uc003jlc.2	+	11	1940	c.1594C>T	c.(1594-1596)Caa>Taa	p.Q532*	EGFLAM_uc003jlb.2_Nonsense_Mutation_p.Q532*|EGFLAM_uc003jle.2_Nonsense_Mutation_p.Q298*|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	532	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCGAGGCTTTCAAGGCTGTGT	0.547000														41			13		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91549253	91549253	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:91549253C>T	uc003hsv.4	+	5	2142	c.1802C>T	c.(1801-1803)cCa>cTa	p.P601L	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.P601L	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	601										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCCAACAGTCCATCTGCGGAT	0.453000														39			6		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064710	73064710	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73064710C>T	uc004ebm.1	-	0		c.7879G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTTGACTGTCCAAATGTAAGG	0.502000														38			6		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400492	9400492	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9400492G>A	uc021wam.1	+	21	2069	c.2054G>A	c.(2053-2055)cGa>cAa	p.R685Q	PLCB4_uc010gbw.1_Missense_Mutation_p.R685Q|PLCB4_uc010gbx.3_Missense_Mutation_p.R697Q|PLCB4_uc021wal.1_Missense_Mutation_p.R685Q|PLCB4_uc002wnh.3_Missense_Mutation_p.R532Q	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	685					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						CGGCCTGATCGAACATTTGAC	0.438000														129			6		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872784	55872784	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55872784C>T	uc010riy.2	+	0	266	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S89Y(2)|p.T88I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTACTGACTTCCAACTATATT	0.433000										HNSCC(53;0.14)				326			25		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104927753	104927753	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:104927753C>T	uc003yls.3	+	4	1418	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	RIMS2_uc003ylp.3_Missense_Mutation_p.R615W|RIMS2_uc003ylw.2_Missense_Mutation_p.R423W|RIMS2_uc003ylq.3_Missense_Mutation_p.R423W|RIMS2_uc003ylr.3_Missense_Mutation_p.R470W|RIMS2_uc003ylt.3_Missense_Mutation_p.R16W|RIMS2_uc003ylu.1_Missense_Mutation_p.R6W|RIMS2_uc003ylv.1_Missense_Mutation_p.R6W	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	693					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGAATCAGGTCGGCTTTGTGC	0.333000										HNSCC(12;0.0054)				35			10		0	0	1	0	0
RP9	6100	broad.mit.edu	37	7	33136927	33136927	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:33136927G>A	uc003tdm.3	-	3	379	c.361C>T	c.(361-363)Cct>Tct	p.P121S		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.	121	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATAAAGAAAGGGCATTCTTTG	0.383000														40			6		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535378	169535378	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:169535378C>T	uc003mai.4	+	1	945	c.900C>T	c.(898-900)gtC>gtT	p.V300V	FOXI1_uc003maj.4_Silent_p.V205V	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	300					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCCCTTGGTCACACCAGGAC	0.627000									Pendred syndrome					51			7		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689046	43689046	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43689046G>A	uc002ovu.3	-	1	449	c.318C>T	c.(316-318)tcC>tcT	p.S106S	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.S106S	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	106	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGATCAGCAGGGATGCATTGG	0.433000														320			44		0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310737	75310737	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75310737C>T	uc002azn.2	+	5	585	c.398C>T	c.(397-399)cCc>cTc	p.P133L	SCAMP5_uc002azl.2_Intron|SCAMP5_uc002azm.2_Intron|SCAMP5_uc002azk.2_Intron|SCAMP5_uc010uly.2_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	132					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GCCCGCAGCCCCACACTGGCC	0.587000														126			9		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481812	38481812	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38481812G>A	uc010ive.1	-	19	3511	c.3179C>T	c.(3178-3180)cCa>cTa	p.P1060L	LIFR_uc003jli.2_Missense_Mutation_p.P1060L	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	1060					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATGGAGCATGGACTTCCAAA	0.408000			T	PLAG1	salivary adenoma									129			10		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447046	41447046	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:41447046G>A	uc002yyq.1	-	26	5258	c.4806C>T	c.(4804-4806)atC>atT	p.I1602I	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1602					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	p.I1602I(2)		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)				CCCCCACCAGGATACAGGAGA	0.567000														44			5		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38910715	38910715	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:38910715G>A	uc002hve.3	-	1	496	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	145	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGGTGGATGCGATGATCTAGA	0.368000														83			5		0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40255814	40255814	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40255814G>A	uc002hyw.3	-	11	1789	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Silent_p.I515I	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	522					innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCAGATCCCGGATCTGGGGTG	0.602000														50			16		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215813	130215813	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130215813G>A	uc004evz.3	+	1	519	c.174G>A	c.(172-174)ctG>ctA	p.L58L	ARHGAP36_uc004ewa.3_Silent_p.L46L|ARHGAP36_uc004ewb.3_Silent_p.L27L|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	58					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			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						TCTCTGAGCTGGAGCGTCTGA	0.532000														92			41		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70514312	70514312	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:70514312G>A	uc001vip.3	-	3	1668	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F	KLHL1_uc010thm.2_Missense_Mutation_p.L231F	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	292					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L292L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAAGCTGAAGAAGGCACGCT	0.433000														19			5		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36689599	36689599	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36689599G>A	uc002hqd.3	-	18	3710	c.3485C>T	c.(3484-3486)tCg>tTg	p.S1162L		NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	1034					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCTGGAAGCCGAGGGCTTTTC	0.557000														25			3		0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61779862	61779862	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:61779862C>T	uc011cqr.2	+	10	1297	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	IPO11_uc003jtc.3_Silent_p.A349A	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	349						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)		CTCTTGAAGCCCATAAGATTA	0.318000														49			6		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168810858	168810858	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:168810858C>T	uc011bpj.1	-	13	3455	c.3052G>A	c.(3052-3054)Gaa>Aaa	p.E1018K	MECOM_uc010hwk.1_Missense_Mutation_p.E844K|MECOM_uc003ffj.3_Missense_Mutation_p.E895K|MECOM_uc003ffi.3_Missense_Mutation_p.E830K|MECOM_uc011bpi.1_Missense_Mutation_p.E822K|MECOM_uc003ffn.3_Missense_Mutation_p.E830K|MECOM_uc003ffk.2_Missense_Mutation_p.E821K|MECOM_uc003ffl.2_Missense_Mutation_p.E981K|MECOM_uc011bpk.1_Missense_Mutation_p.E830K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTGTACTTTCCAGTTCAGAA	0.418000														68			21		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814156	106814156	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:106814156C>T	uc003ymd.3	+	7	1869	c.1846C>T	c.(1846-1848)Cct>Tct	p.P616S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P347S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	616					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.P616A(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCTGCTGATCCTGAGAATCC	0.453000														76			8		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220107568	220107569	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220107568_220107569GG>AA	uc002vkm.3	-	3	550_551	c.311_312CC>TT	c.(310-312)gcc>gTT	p.A104V	GLB1L_uc002vkk.3_5'Flank|GLB1L_uc010zkx.2_Missense_Mutation_p.A104V|GLB1L_uc002vkn.3_Missense_Mutation_p.A104V|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	104					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCAGAAAGGCAATGAGGTC	0.505000														87			7		0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853272	53853272	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:53853272C>T	uc011ldu.2	+	0	805	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	269					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCCTACCACCTGAGCACCGT	0.657000														33			4		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891805	38891805	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38891805C>T	uc021yzh.1	+	72	10938	c.10829C>T	c.(10828-10830)tCc>tTc	p.S3610F	DNAH8_uc003ooe.2_Missense_Mutation_p.S3393F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATTCCTTTCCTACCTTGGT	0.423000														86			14		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792790	169792790	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169792790A>G	uc002ueo.1	-	21	2890	c.2764T>C	c.(2764-2766)Ttg>Ctg	p.L922L	ABCB11_uc010zda.1_Silent_p.L364L|ABCB11_uc010zdb.1_Silent_p.L398L	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	922	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AATCCTGTCAACATCCTGGTC	0.502000														37			9		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669558	53669559	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53669558_53669559CC>TT	uc010eqm.1	-	3	284_285	c.184_185GG>AA	c.(184-186)ggg>AAg	p.G62K		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R62C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTGTTCTTCCCCTTTGGTGGC	0.381000														240			15		0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40703759	40703759	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40703759C>T	uc001zls.3	+	5	899	c.565C>T	c.(565-567)Cac>Tac	p.H189Y	IVD_uc001zlq.2_Missense_Mutation_p.H159Y	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	186					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTTAGGAAATCACTACATCCT	0.507000														45			9		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144081764	144081764	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:144081764G>A	uc010khi.3	+	4	880	c.681G>A	c.(679-681)acG>acA	p.T227T	PHACTR2_uc003qjq.4_Silent_p.T216T|PHACTR2_uc010khh.3_Intron|PHACTR2_uc003qjr.4_Intron	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	216							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCCGAAACACGACCCGAGAGG	0.567000														58			6		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85447026	85447026	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:85447026G>A	uc003pkl.1	-	7	1201	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	401					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H401Y(2)|p.F400L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCCCCAGATGGAAGGCAGGA	0.577000														61			12		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100627975	100627975	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:100627975C>T	uc002taf.3	-	2	256	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	AFF3_uc002tag.3_Intron|AFF3_uc010fiq.1_Intron|AFF3_uc010yvr.1_Missense_Mutation_p.A167T|AFF3_uc002tah.1_Missense_Mutation_p.A38T|AFF3_uc010fir.1_Missense_Mutation_p.A90T	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	17					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						CATCTGCTGGCTGATGACTGA	0.453000														127			9		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182025598	182025598	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:182025598G>A	uc001goz.3	-	1	1756	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	ZNF648_uc021pfu.1_Silent_p.A516A	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCAACTCAGAGGCAATGCGGA	0.617000														19			6		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3322174	3322174	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:3322174A>C	uc001akf.3	+	7	1230	c.1148A>C	c.(1147-1149)cAg>cCg	p.Q383P	PRDM16_uc001ake.3_Missense_Mutation_p.Q383P|PRDM16_uc009vlh.3_Missense_Mutation_p.Q84P|PRDM16_uc001akc.3_Missense_Mutation_p.Q383P	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	383					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)		GGCCTCAAGCAGCACAAGCAT	0.687000			T	EVI1	"""MDS, AML"""									83			24		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	13993638	13993638	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:13993638C>T	uc002mxl.1	-	7	1950	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	C19orf57_uc002mxk.1_Missense_Mutation_p.D544N	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	662					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAGGGTGGGTCCCCTCGAGGG	0.602000														92			15		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746651	95746652	+	Missense_Mutation	DNP	CC	TT	TT	rs144822361		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:95746651_95746652CC>TT	uc003kls.2	-	7	1160_1161	c.921_922GG>AA	c.(919-924)tcggga>tcAAga	p.G308R	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Missense_Mutation_p.G261R	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	308	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCCGTTTCCCGAAGCCCAGA	0.515000														145			36		0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48736792	48736792	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48736792G>A	uc001rrn.2	-	6	1543	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	ZNF641_uc001rro.2_Silent_p.P413P|ZNF641_uc010sls.2_Silent_p.P404P	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						AGCTGTTCCGGGGACTTTGTC	0.552000														70			9		0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61647530	61647530	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61647530G>A	uc001nsm.3	-	1	460	c.307C>T	c.(307-309)Cag>Tag	p.Q103*		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	103					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTCCATCCTGGCTGGGTTCT	0.592000														28			6		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714602	55714602	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55714602C>A	uc010spi.2	+	0	219	c.219C>A	c.(217-219)acC>acA	p.T73T		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CGTTCACAACCGTCAGTATAC	0.383000														46			8		0.0381472	0.0381961	1	1	0
ITFG1	81533	broad.mit.edu	37	16	47195664	47195664	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:47195664C>T	uc002eet.3	-	15	1717	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	ITFG1_uc010vgg.2_Missense_Mutation_p.R298Q|ITFG1_uc010vgh.2_Missense_Mutation_p.R440Q	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	553						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ACATTACCTTCGAGGGACATT	0.388000														75			10		0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67519626	67519626	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:67519626C>T	uc001ddk.2	-	0	455	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	SLC35D1_uc010oph.2_5'Flank	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	24					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTCCTCATCTCGGAGTGTGGA	0.632000														40			8		0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37543402	37543403	+	Missense_Mutation	DNP	AC	CA	CA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:37543402_37543403AC>CA	uc002rqd.3	-	0	820_821	c.265_266GT>TG	c.(265-267)gtg>TGg	p.V89W	PRKD3_uc002rqf.1_Missense_Mutation_p.V89W	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	89					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TATGGAGCACACAAGATCCTTG	0.381000														135			17		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41243916	41243916	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:41243916G>A	uc002icq.3	-	9	3864	c.3632C>T	c.(3631-3633)tCc>tTc	p.S1211F	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.S1140F|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.S1164F|BRCA1_uc002ict.3_Missense_Mutation_p.S1211F|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.S1211F|BRCA1_uc002ide.1_Missense_Mutation_p.S1042F|BRCA1_uc010cyy.1_Missense_Mutation_p.S1211F|BRCA1_uc010whs.1_Missense_Mutation_p.S1211F|BRCA1_uc010cyz.2_Missense_Mutation_p.S1164F|BRCA1_uc010cza.2_Missense_Mutation_p.S1185F|BRCA1_uc010wht.1_Missense_Mutation_p.S915F	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1211					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTCTTCTGAGGACTCTAATTT	0.448000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				43			6		0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196599729	196599729	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196599729C>T	uc002utg.4	+	9	2674	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	SLC39A10_uc002uth.4_Silent_p.L820L|SLC39A10_uc010zgp.2_Silent_p.L370L	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	820					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGATTGCCCTCTATGAAGATA	0.403000														80			5		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134117698	134117698	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:134117698C>T	uc003kzw.3	+	7	1135	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	323					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCAGTTGATCATGGAAAAAT	0.343000														30			4		0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91077094	91077094	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:91077094G>A	uc001xyp.3	-	16	2080	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	TTC7B_uc001xyo.3_Missense_Mutation_p.P80L|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	653							binding	p.P653P(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACCTGTCTCGGGATCGCTGAA	0.498000														56			10		0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160806	12160806	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:12160806G>A	uc001ild.4	+	14	2560	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	821					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GAAACAAAGAGAATCTCTGGG	0.473000														164			27		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993832	140993832	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140993832C>T	uc004fbt.3	+	3	966	c.642C>T	c.(640-642)ttC>ttT	p.F214F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	214							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)					TGAGTATTTTCCAGAGTTCCC	0.507000										HNSCC(15;0.026)				133			58		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55316316	55316316	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55316316C>T	uc010yfl.2	+	2	172	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Missense_Mutation_p.L49F|KIR3DL2_uc002qhi.3_Missense_Mutation_p.L49F|KIR3DL2_uc021vbn.1_Missense_Mutation_p.L49F|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Missense_Mutation_p.L49F|KIR3DL2_uc010esd.3_Missense_Mutation_p.L49F|KIR3DL2_uc010ese.3_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	142	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACACGTGACTCTTCGGTGTCA	0.547000														67			9		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48646833	48646833	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:48646833C>T	uc002pia.1	-	10	1001	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.R226Q|LIG1_uc010xzg.1_Missense_Mutation_p.R263Q|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	294					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTCAAACGTCCGGGCCACAGC	0.597000								Nucleotide excision repair (NER)						82			14		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383365	108383365	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:108383365C>T	uc001pkk.3	-	5	2980	c.2869G>A	c.(2869-2871)Gtt>Att	p.V957I	EXPH5_uc010rvz.2_Missense_Mutation_p.V801I|EXPH5_uc010rvy.2_Missense_Mutation_p.V769I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	957					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGACATCAACCACTTCATCA	0.363000														138			11		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285466	238285466	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:238285466G>A	uc002vwl.2	-	6	3304	c.3019C>T	c.(3019-3021)Cca>Tca	p.P1007S	COL6A3_uc002vwo.2_Missense_Mutation_p.P801S|COL6A3_uc010znj.1_Missense_Mutation_p.P400S|COL6A3_uc002vwq.3_Missense_Mutation_p.P801S|COL6A3_uc002vwr.3_Missense_Mutation_p.P600S|COL6A3_uc010znk.1_Missense_Mutation_p.P807S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1007	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.P1007P(1)		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)		ACTATCTGTGGATGAAGATCT	0.493000														177			27		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087230	47087230	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:47087230G>A	uc001jee.3	+	2	866	c.447G>A	c.(445-447)tgG>tgA	p.W149*	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Nonsense_Mutation_p.W149*|PPYR1_uc021ppu.1_Nonsense_Mutation_p.W149*	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	149					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAACAGGCTGGAAGCCCAGCA	0.592000														144			10		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185142	24185142	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:24185142C>T	uc003ccz.4	-	8	1108	c.588G>A	c.(586-588)cgG>cgA	p.R196R	THRB_uc010hfe.3_Silent_p.R196R|THRB_uc003ccy.4_Silent_p.R196R|THRB_uc003ccx.4_Silent_p.R196R	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	196					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTTTCTCCCGGTTCTCCT	0.567000														58			13		0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102895158	102895158	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:102895158G>A	uc003koi.3	-	2	311	c.218C>T	c.(217-219)tCa>tTa	p.S73L	NUDT12_uc011cvb.2_Missense_Mutation_p.S55L|NUDT12_uc010jbq.1_3'UTR	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	73						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATTGACAATTGATCTGTCACA	0.343000														46			6		0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21269993	21269993	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:21269993G>A	uc021rop.1	-	0	235	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	RNASE1_uc001vyf.3_Silent_p.L79L|RNASE1_uc001vyg.3_Silent_p.L79L|RNASE1_uc001vyh.3_Silent_p.L79L|RNASE1_uc001vyi.3_Silent_p.L79L	NM_198235	NP_937878	P07998	RNAS1_HUMAN	Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 1, mRNA.	79						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		ACATCTACCAGGGGCTCGTGC	0.542000														97			11		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395241	109395241	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:109395241C>T	uc001dwa.3	-	1	315	c.46G>A	c.(46-48)Gat>Aat	p.D16N	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	16										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TAAGGCAAATCCTCCTGCTTA	0.443000														74			4		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110366388	110366388	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:110366388T>C	uc010npv.1	+	0	84	c.57T>C	c.(55-57)aaT>aaC	p.N19N	PAK3_uc010npt.1_Silent_p.N19N|PAK3_uc010npu.1_Silent_p.N19N|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.N19N|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Silent_p.N19N|PAK3_uc004epa.2_Silent_p.N19N|AF070581_uc004epb.3_5'Flank	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	19					multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGAGGATGAATAGTAACAACC	0.473000										TSP Lung(19;0.15)				90			23		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112084550	112084550	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:112084550C>T	uc001pnf.3	+	8	1415	c.1298C>T	c.(1297-1299)aCt>aTt	p.T433I	BCO2_uc001pne.1_Missense_Mutation_p.T260I|BCO2_uc001png.3_Missense_Mutation_p.T360I|BCO2_uc001pnh.3_Missense_Mutation_p.T399I|BCO2_uc010rwt.2_Missense_Mutation_p.T328I|BCO2_uc009yyn.3_Missense_Mutation_p.T399I|BCO2_uc001pni.3_Missense_Mutation_p.T399I	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	433					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TTGTCCTATACTTCAGCCAGT	0.413000														147			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830773	13830773	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13830773C>T	uc003jfd.2	-	35	6036	c.5994G>A	c.(5992-5994)ggG>ggA	p.G1998G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGACGTATTTCCCGAGGCATC	0.488000									Kartagener syndrome					62			23		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351265	40351265	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:40351265C>T	uc003gva.1	+	3	748	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	244					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCGTCAACCTCCTCATCCCAT	0.517000														431			35		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043253	47043253	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:47043253C>T	uc003cqp.3	+	29	4898	c.4719C>T	c.(4717-4719)ctC>ctT	p.L1573L	NBEAL2_uc010hjm.2_Silent_p.L950L|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1573							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCTGATCTCCGTGAGATGG	0.597000														69			5		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72028045	72028045	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:72028045C>T	uc001swo.2	-	11	2759	c.2400G>A	c.(2398-2400)aaG>aaA	p.K800K		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	800					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATGAACTTGTCTTCAGCTGAT	0.353000														40			3		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95374188	95374188	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:95374188C>T	uc003dro.1	-	4		c.1674G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		ACGGTGGCATCATCTCTGGGA	0.428000														38			5		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86210383	86210383	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:86210383T>C	uc001dlj.3	-	56	4713	c.4638A>G	c.(4636-4638)aaA>aaG	p.K1546K	COL24A1_uc001dli.3_Silent_p.K661K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Silent_p.K846K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1546	Fibrillar collagen NC1.				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)		TAAGTAAATCTTTGCAGATTC	0.368000														57			13		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084427	248084427	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248084427C>T	uc010pzc.2	+	0	108	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTTGACCTCCCTGTTTGGCA	0.498000														53			10		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214825138	214825138	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:214825138G>A	uc001hkm.3	+	14	8243	c.8069G>A	c.(8068-8070)gGg>gAg	p.G2690E		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2786	Sufficient for centromere localization.|Sufficient for self-association.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAAAGGAAGGGAAAGTGAGA	0.398000														44			7		0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57723000	57723000	+	Missense_Mutation	SNP	G	A	A	rs61730302	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57723000G>A	uc002qob.3	+	3	949	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		AGTCTCTCCAGGAGATAGAGT	0.453000														45			5		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141732630	141732630	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141732630G>A	uc003vwy.3	+	13	1644	c.1590G>A	c.(1588-1590)atG>atA	p.M530I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	530	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)	TGTAGGATATGAATGAAGTCT	0.353000														11			5		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700570	7700570	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7700570G>A	uc001aoi.3	+	6	828	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGAGTGGGCGAAATGGACGA	0.627000			T	WWTR1	epitheliod hemangioendothelioma									102			24		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168509	142168509	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142168509C>T	uc011kry.1	-	1	380	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CCATTCTCTTCCTCCCTATAA	0.512000														64			30		0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23428990	23428990	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:23428990C>T	uc003xdo.3	+	3	792	c.639C>T	c.(637-639)tcC>tcT	p.S213S	SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|SLC25A37_uc003xdr.1_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	213					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCTTCCAGTCCATCCACTTCA	0.627000														43			17		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59283854	59283854	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:59283854G>A	uc001sqr.3	-	4	829	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	LRIG3_uc009zqh.3_Missense_Mutation_p.L135F|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	195						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTAACACAAGGAGTGTGTTG	0.418000			T	ROS1	NSCLC									158			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070515	9070515	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9070515G>A	uc002mkp.3	-	2	17135	c.16931C>T	c.(16930-16932)cCt>cTt	p.P5644L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5646	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						GGAGGAAACAGGAGAAGGGGA	0.517000														31			3		0	0	1	0	0
RNASE6	6039	broad.mit.edu	37	14	21250264	21250264	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:21250264G>A	uc021roo.1	+	0	406	c.406G>A	c.(406-408)Gat>Aat	p.D136N	RNASE6_uc001vye.4_Missense_Mutation_p.D136N	NM_005615	NP_005606	Q93091	RNAS6_HUMAN	Homo sapiens ribonuclease, RNase A family, k6 (RNASE6), mRNA.	136					RNA catabolic process|defense response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TCAGAAGAGCGATCCCCCCTA	0.468000														121			22		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849040	73849040	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:73849040G>A	uc003xzb.3	+	2	2038	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	484					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTCCGCCGACGATAATCACCT	0.512000														99			8		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862969	67862969	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:67862969C>T	uc009xpn.1	-	13	2046	c.1923G>A	c.(1921-1923)gaG>gaA	p.E641E	CTNNA3_uc001jmw.2_Silent_p.E641E	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	641					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTCGTGTTCCTCTTCAAGGT	0.443000														41			4		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73102410	73102410	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:73102410C>T	uc003pga.3	+	30	4593	c.4516C>T	c.(4516-4518)Cct>Tct	p.P1506S	RIMS1_uc011dyb.2_Missense_Mutation_p.P903S|RIMS1_uc003pgc.3_Missense_Mutation_p.P955S|RIMS1_uc010kaq.3_Missense_Mutation_p.P826S|RIMS1_uc011dyc.2_Missense_Mutation_p.P631S|RIMS1_uc010kar.3_Missense_Mutation_p.P574S|RIMS1_uc011dyd.2_Missense_Mutation_p.P640S|RIMS1_uc003pge.3_Missense_Mutation_p.P546S|RIMS1_uc003pgf.3_Missense_Mutation_p.P506S|RIMS1_uc003pgi.3_Missense_Mutation_p.P322S|RIMS1_uc003pgg.3_Missense_Mutation_p.P402S|RIMS1_uc003pgh.3_Missense_Mutation_p.P373S|RIMS1_uc003pgd.3_Missense_Mutation_p.P572S|RIMS1_uc011dye.2_Missense_Mutation_p.P312S|RIMS1_uc011dyf.2_Missense_Mutation_p.P130S|RIMS1_uc011dyg.2_Missense_Mutation_p.P33S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1506					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTAATATTTCCTGGAGTGCG	0.418000														62			8		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964214	148964214	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:148964214C>T	uc011kuo.2	+	3	737	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	192					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACCAGACATCCTCACCCGGAT	0.547000														43			5		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188210	32188210	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32188210G>A	uc003obb.3	-	5	1270	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.F377F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	377	EGF-like 9; 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	p.F377L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGCAGGAGAAAGAGCCCA	0.607000														176			20		0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233909	120233909	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:120233909C>T	uc003yop.3	+	2	317	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA.	72	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			ATGTTTGTGTCCGTGACAGCG	0.473000														179			17		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29404629	29404629	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:29404629G>A	uc002rmv.3	+	15	2227	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	663	CAP-Gly 3.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGCGCCAAGGGAAAAAATGAT	0.512000														89			9		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423185	56423185	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56423185C>T	uc010ygg.2	-	4	2023	c.1998G>A	c.(1996-1998)ttG>ttA	p.L666L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	666							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)		CTTCGTCCTCCAAAATATTAA	0.408000														125			14		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46111149	46111149	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46111149G>A	uc003oxy.3	+	3	1393	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	378						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCCACATCCTGGGATTAAAAC	0.433000														78			16		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33328830	33328830	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:33328830G>A	uc002xav.3	-	11	7801	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S	NCOA6_uc002xaw.3_Missense_Mutation_p.P1744S|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1744S|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1744	EP300/CRSP3-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGAGGGGAAGGAAGCTGAACA	0.542000														66			6		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152485376	152485376	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152485376G>A	uc021zhb.1	-	128	23935	c.23712C>T	c.(23710-23712)atC>atT	p.I7904I	SYNE1_uc003qos.4_Silent_p.I2428I|SYNE1_uc003qot.4_Silent_p.I7833I|SYNE1_uc003qou.4_Silent_p.I7904I|SYNE1_uc011eez.2_Silent_p.I106I|SYNE1_uc003qoq.4_Silent_p.I106I|SYNE1_uc003qor.4_Silent_p.I804I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7904					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)		GCTCTGACTCGATGTGAGCGA	0.502000										HNSCC(10;0.0054)				85			7		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180030262	180030262	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:180030262G>A	uc003mlz.4	-	29	4101	c.4022C>T	c.(4021-4023)tCg>tTg	p.S1341L		NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	0					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTTGGCTCCGACAGCTCCCC	0.642000														28			3		0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61341149	61341149	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61341149C>T	uc002ydf.3	+	0	961	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	197						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CTCGCCTCGGCCCTGCTGGCG	0.667000														59			9		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705382	50705382	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:50705382G>A	uc002lfe.2	+	8	2085	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	DCC_uc010xdr.1_Missense_Mutation_p.G338E|DCC_uc010dpf.2_Missense_Mutation_p.G145E	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	490	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V489L(1)		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)		CTCACTGTGGGAAACCTGAAG	0.478000														36			7		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116277727	116277727	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:116277727C>T	uc003pwi.1	-	4	1293	c.846G>A	c.(844-846)aaG>aaA	p.K282K		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	282	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.M281T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GTCTTAGGTTCTTCATTATCT	0.388000														81			5		0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831042	86831042	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86831042A>T	uc002srn.3	-	3	2973	c.1982T>A	c.(1981-1983)gTt>gAt	p.V661D	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.V522D|RNF103_uc021vkg.1_Missense_Mutation_p.V657D|BC066991_uc002sro.3_5'Flank	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	661					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CCACCGGCAAACAGGGCAACA	0.438000														97			10		0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47918073	47918073	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:47918073C>T	uc002pgq.3	-	5	807	c.741G>A	c.(739-741)aaG>aaA	p.K247K	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Silent_p.K34K|MEIS3_uc002pgs.3_Silent_p.K166K|MEIS3_uc002pgt.3_Splice_Site_p.G150_splice|MEIS3_uc010eld.3_Silent_p.K166K	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	166	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GCATCTTTCCCTTGAGGCAGG	0.682000														46			8		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562268	142562268	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142562268G>A	uc011kst.2	+	6	1497	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	EPHB6_uc011ksu.2_Missense_Mutation_p.R237Q|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	237	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCGTGCTCCGATCCTTTGCT	0.667000														214			14		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35943078	35943078	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:35943078C>T	uc003anx.3	+	1	427	c.222C>T	c.(220-222)acC>acT	p.T74T	RASD2_uc003any.3_Silent_p.T74T	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	74					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	p.D73Y(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TCCTGGATACCTCTGGCAACC	0.632000														62			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434202	179434202	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179434202C>T	uc021vsy.1	-	274	69178	c.68953G>A	c.(68953-68955)Gat>Aat	p.D22985N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D16680N|TTN_uc021vta.1_Missense_Mutation_p.D16613N|TTN_uc021vtb.1_Missense_Mutation_p.D16488N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23912	Fibronectin type-III 67.						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)			ATAGCTGCATCTCGGATTTCA	0.393000														34			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070231	9070231	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9070231C>T	uc002mkp.3	-	2	17419	c.17215G>A	c.(17215-17217)Gat>Aat	p.D5739N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5741	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						GTGTGTGAATCAGCTGGGACA	0.483000														96			13		0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53039548	53039548	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:53039548C>T	uc001vgv.2	+	5	1624	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	CKAP2_uc001vgt.2_Missense_Mutation_p.P475L|CKAP2_uc001vgu.2_Missense_Mutation_p.P475L|CKAP2_uc010tha.1_Missense_Mutation_p.P427L	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	476					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATCACAAGTCCTATTGAAAAT	0.338000														66			6		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82432206	82432206	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82432206C>T	uc001dit.4	+	11	2392	c.2211C>T	c.(2209-2211)aaC>aaT	p.N737N	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.N737N|LPHN2_uc001div.3_Silent_p.N737N|LPHN2_uc009wcd.3_Silent_p.N737N|LPHN2_uc001diw.3_Silent_p.N321N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	750					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.N737N(2)		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)		TTGCAGTGAACTCTCACGTCA	0.413000														151			13		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125827	12125827	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:12125827C>T	uc003nac.3	+	3	5978	c.5799C>T	c.(5797-5799)ttC>ttT	p.F1933F	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.	1933					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)				AGCTGGCTTTCCCTAGCCTGA	0.423000														116			10		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46307613	46307613	+	Silent	SNP	G	A	A	rs149579519		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:46307613G>A	uc011bzc.1	-	5	922	c.510C>T	c.(508-510)atC>atT	p.I170I	GABRA2_uc003gxc.3_Silent_p.I225I|GABRA2_uc010igc.2_Silent_p.I225I|GABRA2_uc003gxe.3_Silent_p.I225I			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	225					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCCTTTCCGATTGATTGGC	0.383000														27			4		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33467231	33467231	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:33467231G>A	uc003zsz.3	-	13	1856	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Silent_p.S585S|NOL6_uc010mjv.3_Silent_p.S582S|NOL6_uc011lob.2_Silent_p.S533S|NOL6_uc003ztb.1_Silent_p.S585S	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	585					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GCTCCGAGCGGGATCCCCAGA	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			6		0	0	1	0	0
LY6G6C	80740	broad.mit.edu	37	6	31687068	31687068	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31687068G>A	uc003nwh.3	-	2	238	c.183C>T	c.(181-183)tcC>tcT	p.S61S	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	61	UPAR/Ly6.					anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						AGCGCAGATTGGAGAAAACCC	0.587000														93			4		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80631488	80631488	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:80631488A>T	uc003pja.4	-	3	714	c.395T>A	c.(394-396)tTt>tAt	p.F132Y	ELOVL4_uc011dyt.2_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	132					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TTTAGATACAAAGTACCACCA	0.358000														35			5		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854297	12854297	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12854297G>A	uc001auj.2	+	2	624	c.521G>A	c.(520-522)aGg>aAg	p.R174K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	174										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)		GTTTACCAAAGGAGAGGTTTA	0.413000														332			44		0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47759624	47759624	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:47759624G>A	uc003ozc.3	+	2	365	c.337G>A	c.(337-339)Gga>Aga	p.G113R	OPN5_uc003ozd.3_5'UTR	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	113					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGGATGGGCTGGATTTTTCTT	0.478000														45			6		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120876795	120876795	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:120876795G>A	uc003vjq.4	+	16	2530	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	C7orf58_uc003vjs.4_Missense_Mutation_p.E695K|C7orf58_uc003vjt.4_Missense_Mutation_p.E475K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	695						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TCATCCAGAGGAAACCTGTGG	0.333000														61			13		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50155897	50155897	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50155897C>T	uc002poq.3	+	6	2375	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	751	Ser-rich.				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)		CCAGAAGGATCGGCGCCGCTC	0.706000														5			3		0	0	1	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33095722	33095722	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33095722G>A	uc003ocw.1	+	2		c.492G>A								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		TGGACAGGAGGAAACAGCTGG	0.542000														68			4		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552537	1552537	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:1552537G>A	uc010gai.3	-	2	679	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	194	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACGTTGGTCTGGAAGTCTGAG	0.557000														85			14		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65113553	65113553	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:65113553G>A	uc001dbo.1	+	8	1178	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	CACHD1_uc001dbp.1_Missense_Mutation_p.G113D|CACHD1_uc001dbq.1_Missense_Mutation_p.G113D	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	409	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGAAGTACGGTGTGCCAGAC	0.512000														47			9		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102944	22102944	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22102944G>A	uc010tmc.2	-	0	55	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GACAAACCCAGAAGAATGAAA	0.463000														100			9		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963820	88963820	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:88963820G>A	uc011khi.2	+	3	2062	c.1524G>A	c.(1522-1524)ttG>ttA	p.L508L		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	508						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCTTGGAATTGAAGACTAAAA	0.378000										HNSCC(36;0.09)				65			7		0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15519731	15519731	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:15519731G>A	uc003wwt.3	+	4	978	c.634G>A	c.(634-636)Gga>Aga	p.G212R	TUSC3_uc003wwu.3_Missense_Mutation_p.G212R	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	212					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GTCGCTTGTTGGAGGTTTGCT	0.393000														68			8		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72037539	72037539	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:72037539G>A	uc002atb.1	+	10	2080	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	THSD4_uc002ate.2_Silent_p.E307E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	667						proteinaceous extracellular matrix	metalloendopeptidase activity	p.E667K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGACCCCCGAGGAGGAGCCCT	0.547000														201			21		0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107398974	107398974	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107398974C>T	uc003veq.3	+	5	1157	c.827C>T	c.(826-828)tCg>tTg	p.S276L	CBLL1_uc011kme.2_Missense_Mutation_p.S155L|CBLL1_uc011kmf.2_Missense_Mutation_p.S275L	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	276	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCACCTCGATCGGTCAGTCAG	0.463000														64			9		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43921606	43921606	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:43921606G>A	uc010yny.2	+	4	456	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PLEKHH2_uc002rte.3_Missense_Mutation_p.E125K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E125K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	125						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATAATAGAAGAGAAAGCAGC	0.274000														57			4		0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34317262	34317262	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:34317262G>A	uc002xeb.3	-	5	797	c.388C>T	c.(388-390)Cca>Tca	p.P130S	RBM39_uc002xdz.3_Missense_Mutation_p.P106S|RBM39_uc010gfn.3_5'UTR|RBM39_uc002xef.3_5'UTR|RBM39_uc010zvn.2_5'UTR|RBM39_uc002xec.3_Missense_Mutation_p.P130S|RBM39_uc010zvm.2_Missense_Mutation_p.P108S|RBM39_uc002xeg.3_Missense_Mutation_p.P108S|RBM39_uc002xed.3_5'UTR|RBM39_uc002xee.3_5'UTR	NM_184234	NP_909122	Q14498	RBM39_HUMAN	Homo sapiens RNA binding motif protein 39 (RBM39), transcript variant 1, mRNA.	130					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nuclear speck	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTTCTGAATGGACTTTTGCTT	0.353000														89			14		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349326	55349326	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55349326C>T	uc002qhm.1	+	2	412	c.366C>T	c.(364-366)atC>atT	p.I122I	KIR3DL2_uc010yfj.2_Silent_p.I115I|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.I122I|KIR3DL2_uc002qhn.1_Silent_p.I69I	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	217					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACATGGTGATCATAGGTGAGA	0.507000														273			48		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82876171	82876171	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:82876171C>T	uc003kii.3	+	14	10465	c.10109C>T	c.(10108-10110)tCc>tTc	p.S3370F	VCAN_uc003kij.3_Missense_Mutation_p.S2383F|VCAN_uc010jau.2_Missense_Mutation_p.S1616F|VCAN_uc003kik.3_Missense_Mutation_p.S629F|VCAN_uc003kil.3_Missense_Mutation_p.S2034F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3370					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)		TTTAAAAATTCCTCATCAGCA	0.388000														32			3		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14758679	14758679	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:14758679G>A	uc003jfm.4	-	2	673	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	114					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCAGTTTATTGATAATGTAGT	0.418000														59			5		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108182039	108182039	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108182039C>T	uc003dxa.1	-	16	1900	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	615	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						ACCACTGTTTCATTAAGGAGG	0.383000														155			32		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168634	50168634	+	Silent	SNP	G	A	A	rs150358448		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:50168634G>A	uc001zxu.3	-	24	3010	c.2868C>T	c.(2866-2868)ttC>ttT	p.F956F	ATP8B4_uc010ber.3_Silent_p.F829F|ATP8B4_uc010ufd.2_Silent_p.F766F|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	956					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F956F(2)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACGCAAATGAAAAATTTAC	0.458000														58			10		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657112	81657112	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81657112C>T	uc001szo.2	-	30	3771	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E1103K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E1099K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E1198K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E1183K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E1189K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E1204K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E740K|PPFIA2_uc021rbf.1_Missense_Mutation_p.E390K	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.	1104										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						CCATGTACTTCACGAGGAGGA	0.438000														25			3		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324144	72324144	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:72324144G>A	uc001jrd.4	+	18	2568	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	KIAA1274_uc001jre.4_Missense_Mutation_p.E54K	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	763										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AGAGGCGCAAGAAATGCGGAG	0.617000														78			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141079559	141079559	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141079559C>T	uc002tvj.1	-	81	13585	c.12613G>A	c.(12613-12615)Ggc>Agc	p.G4205S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4205					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)		TTGCAGGTGCCATTAATCAAA	0.378000										TSP Lung(27;0.18)				59			5		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78091445	78091445	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:78091445C>T	uc002jxp.3	+	16	2745	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	GAA_uc002jxo.3_Missense_Mutation_p.P793L|GAA_uc002jxq.3_Missense_Mutation_p.P793L	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	793					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCTGCAGCTCCCCGTGAGCCA	0.677000														52			4		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234055	8234055	+	Silent	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:8234055T>G	uc003wsh.4	-	1	1864	c.1864A>C	c.(1864-1866)Agg>Cgg	p.R622R		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	622							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTGGGCCGCCTCTGTTCCGAG	0.632000														58			4		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121454175	121454175	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:121454175C>T	uc001pxx.3	+	25	3718	c.3589C>T	c.(3589-3591)Cac>Tac	p.H1197Y	SORL1_uc010rzp.1_Missense_Mutation_p.H43Y	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1197					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)		AGCCATCTATCACACCTGTGA	0.582000														27			5		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143747	56143747	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56143747C>T	uc001nit.2	+	0	648	c.648C>T	c.(646-648)gtC>gtT	p.V216V		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TTGTCTTTGTCTCCTACATGT	0.493000														64			12		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172725267	172725267	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:172725267C>T	uc002uhh.2	-	2	222	c.133G>A	c.(133-135)Gga>Aga	p.G45R	SLC25A12_uc010fqh.2_5'UTR|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.	45					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			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)	TTATACAGTCCAAGATAGCGC	0.388000														51			6		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123985890	123985890	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123985890G>A	uc001lfv.3	+	12	7978	c.7618G>A	c.(7618-7620)Gat>Aat	p.D2540N	TACC2_uc001lfw.3_Missense_Mutation_p.D686N|TACC2_uc009xzx.3_Missense_Mutation_p.D2495N|TACC2_uc010qtv.2_Missense_Mutation_p.D2544N|TACC2_uc001lfx.3_Missense_Mutation_p.D244N|TACC2_uc001lfy.3_Missense_Mutation_p.D240N|TACC2_uc001lfz.3_Missense_Mutation_p.D618N|TACC2_uc001lga.3_Missense_Mutation_p.D618N|TACC2_uc009xzy.3_Missense_Mutation_p.D630N|TACC2_uc001lgb.3_Missense_Mutation_p.D575N|TACC2_uc010qtw.1_Missense_Mutation_p.D635N	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2540						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)				GCAGGACGACGATGCCCCGAA	0.532000														13			7		0	0	1	0	0
RAMP1	10267	broad.mit.edu	37	2	238820347	238820347	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:238820347C>T	uc002vxj.3	+	2	501	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_005855	NP_005846	O60894	RAMP1_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 1 (RAMP1), mRNA.	123					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	ACCCCTTCATCGTGGTCCCCA	0.672000														35			3		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94066933	94066933	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94066933G>A	uc001ybv.1	+	21	2943	c.2860G>A	c.(2860-2862)Gac>Aac	p.D954N	UNC79_uc001ybs.1_Missense_Mutation_p.D954N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1131						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						TCTTTGTCTTGACTTCCAGTT	0.383000														26			8		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47809029	47809029	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:47809029G>A	uc003gxm.3	-	1	192	c.99C>T	c.(97-99)ggC>ggT	p.G33G	CORIN_uc011bzg.2_Silent_p.G33G|CORIN_uc011bzh.1_Silent_p.G33G|CORIN_uc011bzi.1_Silent_p.G33G|CORIN_uc003gxn.4_Silent_p.G33G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	33					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						TCTGAGAGCAGCCATTGCCCA	0.433000														12			3		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9538848	9538848	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:9538848G>A	uc010coc.3	+	11	1706	c.1477G>A	c.(1477-1479)Ggg>Agg	p.G493R	WDR16_uc002gly.3_Missense_Mutation_p.G483R|WDR16_uc002glz.3_Missense_Mutation_p.G415R			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	483						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGCACCGATGGGACTTGTAT	0.502000														42			9		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39517881	39517881	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:39517881G>A	uc001wup.1	-	14	1935	c.1712C>T	c.(1711-1713)tCa>tTa	p.S571L	SEC23A_uc010tqa.1_Missense_Mutation_p.S433L|SEC23A_uc010tqb.1_Missense_Mutation_p.S542L	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	571					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GAAAGTTTCTGAAAATCTGAA	0.313000														32			5		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414613	17414613	+	Silent	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17414613A>C	uc001mnc.3	-	38	4797	c.4671T>G	c.(4669-4671)ctT>ctG	p.L1557L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1557	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TATCGAACTCAAGGATGGCAC	0.622000														53			14		0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41202555	41202555	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:41202555T>C	uc004dfe.3	+	6	1485	c.630T>C	c.(628-630)gcT>gcC	p.A210A	DDX3X_uc010nhf.1_Silent_p.A194A|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Silent_p.A210A|DDX3X_uc011mkq.2_Silent_p.A194A|DDX3X_uc011mkr.2_Silent_p.A210A|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	210					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AAAAGCATGCTATTCCTATTA	0.378000										HNSCC(61;0.18)				19			6		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72673353	72673353	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:72673353G>A	uc011mqk.2	+	2	503	c.503_splice	c.e2-1	p.G168_splice		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	168						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTCCTAACAGGGAAAACCAGG	0.368000														15			3		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126746118	126746118	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:126746118C>T	uc003kuh.4	+	9	1317	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	MEGF10_uc010jdc.1_Missense_Mutation_p.L319F|MEGF10_uc010jdd.1_Missense_Mutation_p.L319F|MEGF10_uc003kui.4_Missense_Mutation_p.L319F	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	319	EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.V318I(1)		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)		CTATGGCGTTCTCTGTGCTGA	0.537000														30			4		0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52797594	52797594	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52797594A>G	uc003dfq.4	-	4	916	c.713T>C	c.(712-714)aTa>aCa	p.I238T	NEK4_uc011bej.2_Missense_Mutation_p.I149T|NEK4_uc003dfr.3_Missense_Mutation_p.I238T	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	238	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CATTGTTCTTATCAGTTCTGC	0.428000														110			28		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47702402	47702402	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:47702402C>T	uc002rvy.1	+	11	2066	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	MSH2_uc010yoh.1_Silent_p.I600I|MSH2_uc002rvz.3_Silent_p.I666I|MSH2_uc010fbg.2_Silent_p.I476I|MSH2_uc010fbi.1_Non-coding_Transcript	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	666	Interaction with EXO1.				B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTTCCACATCATTACTGGTA	0.294000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					50			7		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415799	86415799	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:86415799G>A	uc003uid.3	+	2	1790	c.691G>A	c.(691-693)Gag>Aag	p.E231K	GRM3_uc010lef.3_Missense_Mutation_p.E229K|GRM3_uc010leg.3_Missense_Mutation_p.E103K|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	231					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGAGGCCTTCGAGCAGGAAGC	0.597000														58			6		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137642638	137642638	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:137642638C>T	uc004cfe.3	+	12	1954	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	524	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)		ACTTGCAGTTCCGGTTTGGAG	0.632000														29			3		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583685	10583685	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:10583685G>T	uc011kwz.2	-	5	919	c.886C>A	c.(886-888)Ccg>Acg	p.P296T	SOX7_uc003wtf.3_Missense_Mutation_p.P244T	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	244	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GCGTACTCCGGTGAGTACGGG	0.697000														49			9		0.000442599	0.000444589	1	1	0
ENPP4	22875	broad.mit.edu	37	6	46107323	46107323	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46107323G>A	uc003oxy.3	+	1	262	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	1						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGTTCATTATGAAGTTATTAG	0.318000														29			20		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114304421	114304421	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:114304421C>T	uc003vhb.3	+	15	2307	c.1933C>T	c.(1933-1935)Ctc>Ttc	p.L645F	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.L670F|FOXP2_uc003vha.3_Missense_Mutation_p.L553F|FOXP2_uc011kmv.2_Missense_Mutation_p.L644F|FOXP2_uc011kmu.2_Missense_Mutation_p.L662F|FOXP2_uc010ljz.2_Missense_Mutation_p.L460F	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	645					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CCACGAAGACCTCAATGGTTC	0.498000														57			4		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952122	22952122	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:22952122G>A	uc021urt.1	-	1	163	c.8C>T	c.(7-9)tCg>tTg	p.S3L		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.S24W(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)				AAATGTCAACGATCCCTGAAA	0.388000														60			19		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180721	142180721	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142180721C>T	uc011krz.2	-	1	187	c.138G>A	c.(136-138)atG>atA	p.M46I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.M46I|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATTCATGGTTCATATCCTGGG	0.517000														499			14		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21307661	21307661	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:21307661G>A	uc001bec.3	-	3	346	c.90C>T	c.(88-90)tcC>tcT	p.S30S	EIF4G3_uc010odj.2_Silent_p.S30S|EIF4G3_uc009vpz.3_Silent_p.S30S|EIF4G3_uc001bef.3_Silent_p.S30S|EIF4G3_uc001bee.3_Silent_p.S37S|EIF4G3_uc001beg.3_Silent_p.S30S|EIF4G3_uc010odk.2_Silent_p.S30S|EIF4G3_uc001beh.3_Silent_p.S41S	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	30					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGGACGAATGGAAGGACTGC	0.488000														68			4		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763924	92763924	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92763924C>T	uc003umh.1	-	4	2577	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	SAMD9L_uc003umj.1_Missense_Mutation_p.G454E|SAMD9L_uc003umi.1_Missense_Mutation_p.G454E|SAMD9L_uc010lfb.1_Missense_Mutation_p.G454E|SAMD9L_uc003umk.1_Missense_Mutation_p.G454E|SAMD9L_uc010lfc.1_Missense_Mutation_p.G454E|SAMD9L_uc010lfd.1_Missense_Mutation_p.G454E|SAMD9L_uc022ahh.1_Missense_Mutation_p.G454E	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	454										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)			TTTGACCACTCCATTGATCAT	0.348000														73			8		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124598641	124598641	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:124598641G>A	uc001lgs.3	-	4	1291	c.340C>T	c.(340-342)Cct>Tct	p.P114S	CUZD1_uc001lgp.3_5'Flank|CUZD1_uc009yad.3_5'Flank|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Missense_Mutation_p.P114S	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	114	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAAATACAGGAACATAGTCG	0.408000														186			12		0	0	1	0	0
RAPSN	5913	broad.mit.edu	37	11	47470502	47470502	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:47470502C>T	uc001nfi.2	-	0	229	c.15G>A	c.(13-15)caG>caA	p.Q5Q	RAPSN_uc001nfj.2_Silent_p.Q5Q|RAPSN_uc009yls.1_Silent_p.Q5Q	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 1, mRNA.	5					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCTGCTTGGTCTGGTCCTGCC	0.612000														109			15		0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160219966	160219966	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:160219966G>A	uc003fdn.3	-	16	1798	c.1492C>T	c.(1492-1494)Cca>Tca	p.P498S		NM_002268	NP_002259	O00629	IMA4_HUMAN	Homo sapiens karyopherin alpha 4 (importin alpha 3) (KPNA4), mRNA.	498					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATTGCCTCTGGAACAAGGCTA	0.338000														102			23		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833639	168833639	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:168833639C>T	uc011bpj.1	-	7	2424	c.2021G>A	c.(2020-2022)gGt>gAt	p.G674D	MECOM_uc010hwk.1_Missense_Mutation_p.G509D|MECOM_uc003ffj.3_Missense_Mutation_p.G551D|MECOM_uc003ffi.3_Missense_Mutation_p.G486D|MECOM_uc011bpi.1_Missense_Mutation_p.G487D|MECOM_uc003ffn.3_Missense_Mutation_p.G486D|MECOM_uc003ffk.2_Missense_Mutation_p.G486D|MECOM_uc003ffl.2_Missense_Mutation_p.G646D|MECOM_uc011bpk.1_Missense_Mutation_p.G486D|MECOM_uc010hwn.2_Missense_Mutation_p.G674D	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGTTGAACCAAAGTATTT	0.428000														94			19		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11186741	11186741	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:11186741G>A	uc001asd.3	-	45	6585	c.6464C>T	c.(6463-6465)tCc>tTc	p.S2155F	MTOR_uc001asc.3_Missense_Mutation_p.S360F	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2155					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.Q2154E(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CGGTGCTATGGACTGAATGCG	0.502000														70			14		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196621010	196621010	+	Splice_Site	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196621010C>A	uc002utj.4	-	62	11535	c.11434_splice	c.e62-1	p.G3812_splice	DNAH7_uc002uti.4_Splice_Site_p.G295_splice	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3812					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCAAGCCCCTGAAACACAT	0.348000														64			5		0.014758	0.0147863	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457472	110457472	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110457472G>A	uc003yne.3	+	37	5478	c.5374G>A	c.(5374-5376)Gag>Aag	p.E1792K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1792	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAGCAATAGAGGTTAATGA	0.418000										HNSCC(38;0.096)				64			10		0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73008283	73008283	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:73008283G>A	uc021qnb.1	+	0	720	c.720G>A	c.(718-720)atG>atA	p.M240I	P2RY6_uc001otm.3_Missense_Mutation_p.M240I|P2RY6_uc001otn.3_Missense_Mutation_p.M240I|P2RY6_uc001otq.3_Missense_Mutation_p.M240I|P2RY6_uc001otr.3_Missense_Mutation_p.M240I|P2RY6_uc001ots.3_Missense_Mutation_p.M240I	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	240					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CGGCCCGCATGGCCGTGGTGG	0.692000														114			11		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131666102	131666102	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:131666102C>T	uc021qav.1	-	8	888	c.787G>A	c.(787-789)Gac>Aac	p.D263N	EBF3_uc001lki.2_Missense_Mutation_p.D277N	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	286	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAGAAGTTGTCGCCAATTATG	0.567000														56			4		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458685	16458685	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16458685C>T	uc001aya.2	-	12	2354	c.2199G>A	c.(2197-2199)atG>atA	p.M733I		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	733	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCACATAGTTCATGTTGGCCA	0.622000														113			16		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35861076	35861076	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35861076C>T	uc003jjs.3	+	1	294	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	IL7R_uc011coo.2_Silent_p.L69L|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	69					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CATCACCAATCTGGAATTTGA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							87			10		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395784	54395784	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54395784G>A	uc002qcq.1	+	6	990	c.708G>A	c.(706-708)gtG>gtA	p.V236V	PRKCG_uc010eqz.1_Silent_p.V236V|PRKCG_uc010yef.1_Silent_p.V236V|PRKCG_uc010yeg.1_Silent_p.V236V|PRKCG_uc010yeh.1_Silent_p.V123V|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	236	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAGGGGATGTGGAGCGCCGGC	0.662000														23			5		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878037	44878037	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:44878037C>T	uc001clv.1	+	1	628	c.268C>T	c.(268-270)Cct>Tct	p.P90S	RNF220_uc001clw.1_Missense_Mutation_p.P90S	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	90					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGATTTCCCCCCTTCTCTACT	0.517000														328			40		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581784	7581784	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7581784C>T	uc003mxp.1	+	22	5640	c.5361C>T	c.(5359-5361)ttC>ttT	p.F1787F	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1787	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)		TTGAGAAATTCCAAAAGCAGG	0.408000														90			6		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378035	19378035	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:19378035C>T	uc010tkp.2	+	0	442	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCTCTATCCTAATATCAT	0.448000														299			11		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113293492	113293492	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:113293492G>A	uc003ynu.3	-	58	9578	c.9419C>T	c.(9418-9420)tCc>tTc	p.S3140F	CSMD3_uc003yns.3_Missense_Mutation_p.S2342F|CSMD3_uc003ynt.3_Missense_Mutation_p.S3100F|CSMD3_uc011lhx.2_Missense_Mutation_p.S2971F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3140	Sushi 23.					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						CTCCATGCAGGAATAAATGAC	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				38			3		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836052	14836052	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:14836052C>T	uc001rcd.3	-	3	672	c.535G>A	c.(535-537)Gat>Aat	p.D179N	GUCY2C_uc009zhz.2_Missense_Mutation_p.D179N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	179					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.D179N(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGGGCAGATCGTTGGTTTTC	0.378000														48			12		0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979436	92979436	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:92979436G>A	uc010otf.2	-	18	2253	c.2243C>T	c.(2242-2244)tCa>tTa	p.S748L	EVI5_uc001dox.3_Missense_Mutation_p.S737L	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	737	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GGAATGGAATGATTCATCATC	0.428000														47			5		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389793	158389793	+	Missense_Mutation	SNP	C	T	T	rs137874220	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158389793C>T	uc010pii.2	-	0	864	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M288I(2)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGCTATAAATCATTGGGTTGA	0.368000														59			7		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221668	118221668	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:118221668C>T	uc004era.4	-	10	3525	c.3525G>A	c.(3523-3525)gaG>gaA	p.E1175E		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1175										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						CAGCCATTTTCTCTAGTCGTG	0.458000														29			10		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330069	125330069	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125330069G>A	uc004bmp.1	-	0	688	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGTAGAGGGAATCTTGAGA	0.433000														18			9		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98974557	98974557	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:98974557C>T	uc011mrd.1	-	7		c.1786G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GGTAATTTTCCCTTCAGGATT	0.418000														10			5		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139572104	139572104	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139572104G>A	uc011kqv.2	+	1	398	c.163G>A	c.(163-165)Gga>Aga	p.G55R	TBXAS1_uc003vvh.3_Missense_Mutation_p.G55R|TBXAS1_uc010lne.3_5'UTR|TBXAS1_uc011kqu.2_Intron|TBXAS1_uc003vvi.3_Missense_Mutation_p.G55R|TBXAS1_uc011kqw.2_Nonsense_Mutation_p.W25*|TBXAS1_uc003vvj.3_Missense_Mutation_p.G55R|TBXAS1_uc011kqx.1_Missense_Mutation_p.G55R	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	54					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TCCTTTCATTGGAAACTTGAC	0.478000														62			8		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875762	51875762	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51875762G>A	uc002pwj.3	-	0	199	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	NKG7_uc002pwk.3_Silent_p.L10L	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	10						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGCCCCCCAGCAGGGCCAGG	0.602000														68			7		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72806823	72806823	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:72806823C>T	uc003pga.3	+	2	494	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	139	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCACTAAGTTCTGTGCGCGCT	0.493000														30			4		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870597	51870597	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51870597G>A	uc002xwo.3	+	1	1487	c.600G>A	c.(598-600)caG>caA	p.Q200Q	TSHZ2_uc021wex.1_Silent_p.Q197Q	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	200					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R199R(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTACCGACAGAGCAGCAAGA	0.582000														36			7		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412096	33412096	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:33412096C>T	uc021vft.1	+	5	1398	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	LTBP1_uc002rou.3_Missense_Mutation_p.H133Y|LTBP1_uc002rov.3_Missense_Mutation_p.H133Y|LTBP1_uc010ymz.2_Missense_Mutation_p.H133Y|LTBP1_uc010yna.2_Missense_Mutation_p.H133Y	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	459					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCATGTCATCCATTCAACACA	0.512000														41			9		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911614	107911614	+	Missense_Mutation	SNP	G	A	A	rs104886391		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107911614G>A	uc022ccg.1	+	40	3872	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	COL4A5_uc004enz.1_Missense_Mutation_p.E1224K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1224	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAAAGGGCGAACCAGGCTT	0.532000									Alport syndrome with Diffuse Leiomyomatosis					19			7		0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219362824	219362824	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219362824G>A	uc010fvs.1	-	11	1495	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	USP37_uc002vie.2_Missense_Mutation_p.S361L|USP37_uc010zkf.1_Missense_Mutation_p.S361L|USP37_uc002vif.2_Missense_Mutation_p.S361L|USP37_uc002vig.2_Missense_Mutation_p.S289L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	361					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGACTGGAGTGAAAATAGAGA	0.348000														41			16		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78794543	78794543	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:78794543C>T	uc004akc.2	+	14	2470	c.1932C>T	c.(1930-1932)ggC>ggT	p.G644G	PCSK5_uc004ajz.3_Silent_p.G644G|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_5'Flank	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	644	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTGAGGTTGGCTGTGACGGGC	0.463000														47			5		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209780	10209780	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10209780T>C	uc002gmk.1	-	36	5552	c.5462A>G	c.(5461-5463)aAc>aGc	p.N1821S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1821					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTACCCGGTTCTCCAGTTT	0.522000														142			35		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96953255	96953255	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96953255G>A	uc002svu.3	-	25	3538	c.3406C>T	c.(3406-3408)Cct>Tct	p.P1136S	SNRNP200_uc002svt.3_5'Flank|SNRNP200_uc010yuj.2_5'Flank|SNRNP200_uc002svv.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1136	SEC63 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACTTCCTCAGGGAGTTTCCGG	0.517000														70			8		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39503970	39503970	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:39503970C>T	uc003thb.2	+	10	1904	c.1761C>T	c.(1759-1761)gcC>gcT	p.A587A	POU6F2_uc022acb.1_Silent_p.A551A	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	587					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGCTGAGGCCCGCCATCGAG	0.567000														38			7		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772522	4772522	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:4772522C>T	uc001alm.1	+	1	973	c.592C>T	c.(592-594)Ccg>Tcg	p.P198S	AJAP1_uc001aln.3_Missense_Mutation_p.P198S	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	198	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAACACATTTCCGGGCGTTTA	0.652000														20			7		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657761	143657761	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143657761G>A	uc003wds.1	+	0	742	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCCAGAGAAGGAAGAAAGAAA	0.498000														81			10		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247151185	247151185	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247151185G>A	uc009xgu.3	-	3	817	c.632C>T	c.(631-633)cCg>cTg	p.P211L	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	211					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACATTGGTACGGGTTCTCTCC	0.373000														47			6		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175332955	175332955	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175332955G>A	uc001gkp.1	-	10	2677	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S	TNR_uc009wwu.1_Missense_Mutation_p.P866S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	866	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTTTTGGGGGATCAATTCCT	0.433000														48			6		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120369647	120369647	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:120369647G>A	uc003edw.3	-	5	868	c.408C>T	c.(406-408)ttC>ttT	p.F136F	HGD_uc003edv.3_5'UTR	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	136					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TATTGCAGAGGAAAATGTGGA	0.483000														145			20		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580519	53580519	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:53580519G>A	uc021onn.1	-	2	510	c.342C>T	c.(340-342)atC>atT	p.I114I	SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cuy.3_Silent_p.I114I|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Silent_p.I114I|AX748428_uc001cva.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	114						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	TGCCTGGGTGGATGATGGAGA	0.602000														28			11		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158571503	158571503	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:158571503C>G	uc003qrc.2	-	3	389	c.247G>C	c.(247-249)Gac>Cac	p.D83H	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	83					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCTCCTTTGTCTAAAGAAACT	0.328000														36			4		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130530648	130530648	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:130530648C>T	uc003qbw.3	-	4	703	c.375G>A	c.(373-375)ttG>ttA	p.L125L	SAMD3_uc003qbx.3_Silent_p.L125L|SAMD3_uc010kfg.1_Silent_p.L125L|SAMD3_uc003qby.3_Silent_p.L125L|SAMD3_uc003qbz.1_Silent_p.L84L	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	125										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACCTCTGTTTCAATACTCTTT	0.393000														23			7		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7551075	7551075	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7551075C>T	uc010sge.2	-	6	1570	c.1544G>A	c.(1543-1545)tGg>tAg	p.W515*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.W505*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	505	SRCR 5.					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						CCTTGTGCTCCATCTGTCATG	0.468000														71			8		0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19813439	19813439	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:19813439C>T	uc003wzk.4	+	5	1233	c.863C>T	c.(862-864)gCc>gTc	p.A288V		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	288			A -> T (associated with LPL deficiency; the LPL mass level is approximately 67% of the normal; the activity is 32% of the nornal; dbSNP:rs1800011).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCAAGTAAGGCCTACAGGTGC	0.463000														87			8		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38746198	38746198	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38746198G>A	uc021yzh.1	+	13	2106	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E	DNAH8_uc003ooe.2_Missense_Mutation_p.G449E	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						AGTAGTTTTGGGAAAATCTTA	0.299000														85			12		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	124028187	124028187	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:124028187G>A	uc010nqy.3	-	2	557	c.493C>T	c.(493-495)Cct>Tct	p.P165S	ODZ1_uc011muj.2_Missense_Mutation_p.P165S|ODZ1_uc004euj.3_Missense_Mutation_p.P165S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	165	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.P165L(1)		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						CAACAAACAGGAGAGAATTTG	0.408000														35			12		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940831	144940831	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144940831G>A	uc003zaa.1	-	0	6604	c.6591C>T	c.(6589-6591)ctC>ctT	p.L2197L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2197						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)			CCAGGTCCTGGAGCATTTCCT	0.577000														212			25		0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10239212	10239212	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:10239212G>A	uc003jeo.2	-	1	302	c.273C>T	c.(271-273)tcC>tcT	p.S91S	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Silent_p.S91S	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	91						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TGTCCACAAGGGATCCTCTTC	0.418000														64			22		0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44351606	44351606	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44351606C>T	uc002oxr.4	+	6	1121	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	ZNF283_uc002oxp.4_Missense_Mutation_p.H146Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAATTCACACTGGTGA	0.423000														41			5		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592428	38592428	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:38592428G>A	uc021wvo.1	-	26	5487	c.5435C>T	c.(5434-5436)tCg>tTg	p.S1812L	SCN5A_uc021wvk.1_Missense_Mutation_p.S1779L|SCN5A_uc021wvl.1_Missense_Mutation_p.S1758L|SCN5A_uc021wvm.1_Missense_Mutation_p.S1794L|SCN5A_uc021wvn.1_Missense_Mutation_p.S1811L|SCN5A_uc021wvp.1_Missense_Mutation_p.S1812L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.S1624L|SCN5A_uc021wvi.1_Missense_Mutation_p.S1678L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1812					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.S1812S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGACAGGACCGAATACTCAAT	0.537000														43			7		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299295	58299295	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:58299295C>T	uc001vhq.1	+	3	4239	c.3347C>T	c.(3346-3348)gCt>gTt	p.A1116V	PCDH17_uc010aec.1_Missense_Mutation_p.A1115V|PCDH17_uc001vhr.1_Missense_Mutation_p.A205V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1116					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G1115C(1)		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)		GAGATGGGTGCTGTTCTTGAG	0.522000														181			17		0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73999426	73999426	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:73999426G>A	uc002jqg.4	+	8	2575	c.823G>A	c.(823-825)Gga>Aga	p.G275R	CDK3_uc010dgt.3_Missense_Mutation_p.G247R	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	247	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						GACCAGGAAGGGACTGGAAGA	0.587000														80			10		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877286	45877286	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45877286C>T	uc021wjs.1	+	0	759	c.759C>T	c.(757-759)atC>atT	p.I253I	LRRC3_uc002zfa.3_Silent_p.I253I	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	253						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		AGGACCCCATCGGCCCGGGGC	0.642000														63			5		0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110149038	110149038	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:110149038C>T	uc001dya.3	-	4	695	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	161					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	p.R161Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GTCTGTAATTCGTTCTAATTG	0.433000														83			16		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064582	73064582	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73064582C>T	uc004ebm.1	-	0		c.8007G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TTATCAGCACCCCTGCTGTAC	0.493000														40			12		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123046501	123046501	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:123046501G>A	uc003egh.2	-	6	1911	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	ADCY5_uc021xdd.1_Silent_p.I287I|ADCY5_uc003egg.2_Silent_p.I270I|ADCY5_uc003egi.1_Silent_p.I196I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	637					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.I637F(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGAAGGTCTCGATACTGTGCT	0.622000														39			4		0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52220399	52220399	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:52220399G>A	uc002pxn.1	-	1	784	c.771C>T	c.(769-771)ctC>ctT	p.L257L	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Silent_p.L215L|HAS1_uc002pxo.1_Silent_p.L250L|HAS1_uc002pxp.1_Silent_p.L249L	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	250					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			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)		GTACCCGCACGAGCTCCAGCA	0.627000														72			8		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513407	78513407	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:78513407C>T	uc001syp.3	+	14	3604	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	NAV3_uc001syo.3_Missense_Mutation_p.S1144F|NAV3_uc010sub.2_Missense_Mutation_p.S644F|NAV3_uc009zsf.3_Missense_Mutation_p.S152F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1144	Ser-rich.					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						CCTTCAAAATCCAGCACCAGT	0.522000										HNSCC(70;0.22)				54			7		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483628	19483628	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:19483628C>T	uc003jgd.3	-	11	2198	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Missense_Mutation_p.R555K|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	555	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCGACTAAATCTCCTCCGCCT	0.443000														45			6		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892255	2892255	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:2892255G>A	uc002kln.3	+	3	2289	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	710					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)		CTCATATGGAGAAAACTTGCA	0.547000														83			16		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48173412	48173412	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:48173412C>G	uc003gxz.3	-	3	389	c.298G>C	c.(298-300)Gac>Cac	p.D100H		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	100	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACCCACAGGTCCCTGCTTTGT	0.323000														43			7		0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120918248	120918248	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:120918248C>T	uc001pxo.3	+	2	350	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	TBCEL_uc009zay.3_Missense_Mutation_p.L49F|TBCEL_uc001pxp.3_5'UTR|TBCEL_uc001pxq.3_Non-coding_Transcript	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	49						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCGCCTCAACCTCCCAAGTGT	0.418000														72			7		0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46518165	46518165	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46518165G>A	uc003oyf.1	-	11	1552	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	CYP39A1_uc011dwa.1_Missense_Mutation_p.H430Y|CYP39A1_uc010jzd.1_Missense_Mutation_p.H278Y	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	450					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CCCACCAAATGGAGATAACTC	0.413000														39			4		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712468	121712468	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712468G>A	uc003ees.3	-	6	1331	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	ILDR1_uc003eeq.3_Silent_p.F344F|ILDR1_uc003eer.3_Silent_p.F332F|ILDR1_uc010hrg.3_Silent_p.F287F	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	376						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTCCTGGTGGAAATCAGGGT	0.602000														57			5		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69053129	69053129	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:69053129G>A	uc010fdg.3	+	10	2163	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	ARHGAP25_uc010yql.2_Missense_Mutation_p.E542K|ARHGAP25_uc002sew.3_Missense_Mutation_p.E574K|ARHGAP25_uc002sex.3_Missense_Mutation_p.E575K	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	581					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTTGAGAAGGAAAATTATGA	0.453000														37			6		0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129047	40129048	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:40129047_40129048CC>TT	uc001cdq.1	-	3	492_493	c.492_493GG>AA	c.(490-495)aaggcc>aaAAcc	p.A165T		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	165					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGTGATAGGCCTTGAGGTAGC	0.530000														60			7		0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149244	119149244	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:119149244T>A	uc001pwe.3	+	8	1390	c.1252T>A	c.(1252-1254)Ttc>Atc	p.F418I		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	418	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.F418S(4)|p.P417L(2)|p.E366_K477del(2)|p.P417A(2)|p.F418L(2)|p.G397_I429del(2)|p.P417R(2)|p.P417H(1)|p.K322_D460del(1)|p.P417S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGGCTGTCCTTTCTGCCGATG	0.433000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					114			6		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976879	55976879	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:55976879C>T	uc003has.3	-	7	1335	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R	KDR_uc003hat.1_Missense_Mutation_p.G345R|KDR_uc011bzx.2_Missense_Mutation_p.G345R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	345	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACACGCTCCCCCACCGTGGCT	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				74			11		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94928715	94928715	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:94928715C>T	uc002btj.3	+	12	1814	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P	MCTP2_uc002bti.2_Silent_p.P583P|MCTP2_uc010boj.3_Silent_p.P312P|MCTP2_uc010bok.3_Silent_p.P583P|MCTP2_uc002btk.4_Silent_p.P171P|MCTP2_uc002btl.3_Silent_p.P171P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	583	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GAGATAAACCCCCAGATTTTC	0.338000														189			8		0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77812121	77812121	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:77812121G>A	uc001oza.1	-	12	1535	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	ALG8_uc001oyz.1_3'UTR	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	490					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GTAACAAAGGGATGAAGGGGT	0.443000														85			13		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93965670	93965670	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93965670C>T	uc003poe.3	-	12	2499	c.2258G>A	c.(2257-2259)gGa>gAa	p.G753E	EPHA7_uc003pof.3_Missense_Mutation_p.G748E|EPHA7_uc011eac.2_Missense_Mutation_p.G749E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	753	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTGAACATATCCCATATCAGC	0.423000														66			16		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217107	150217107	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150217107G>A	uc003whk.3	+	1	175	c.45G>A	c.(43-45)ggG>ggA	p.G15G	GIMAP7_uc022apu.1_Silent_p.G15G	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	15							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTGGTAGGGAAAACTGGAA	0.498000														46			11		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206820811	206820811	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:206820811C>T	uc001hej.3	+	2	436	c.268C>T	c.(268-270)Caa>Taa	p.Q90*	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Nonsense_Mutation_p.Q70*	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	90					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ACAGCTGTTTCAAGAATTTGG	0.388000														114			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063956	9063956	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9063956G>A	uc002mkp.3	-	2	23694	c.23490C>T	c.(23488-23490)acC>acT	p.T7830T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7832	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						TCAATCCAGGGGTCAGGGAGG	0.542000														74			12		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617782	31617782	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31617782A>G	uc011kae.2	+	7	994	c.982A>G	c.(982-984)Atc>Gtc	p.I328V	CCDC129_uc011kad.1_Missense_Mutation_p.I312V|CCDC129_uc003tcj.1_Missense_Mutation_p.I302V|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.I210V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	302										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCAACCTCAATCAACCACAA	0.438000														38			5		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115144187	115144187	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115144187C>T	uc001efd.1	-	12	2459	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R529Q	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	586	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCAGGGAGTCGCTTTCCTTT	0.358000														260			75		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454485	84454485	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:84454485C>T	uc001vlk.3	-	0	2044	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	386						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGCTGTGGATCTTGTTATCTC	0.448000														135			16		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487294	56487294	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56487294G>A	uc001sjh.3	+	11	1716	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Silent_p.E421E|ERBB3_uc009zok.3_5'Flank|ERBB3_uc001sjk.3_5'Flank|ERBB3_uc001sjj.1_Silent_p.E48E	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	480					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTACGGAAGAGCGACTAGACA	0.542000														68			9		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155319381	155319381	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155319381G>A	uc009wqq.3	-	17	7868	c.7388C>T	c.(7387-7389)tCc>tTc	p.S2463F	ASH1L_uc001fkt.3_Missense_Mutation_p.S2458F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2463	Bromo.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCTTGCCGGGAAGAATCTGC	0.413000														18			5		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378447	133378447	+	Missense_Mutation	SNP	G	A	A	rs149188843	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:133378447G>A	uc001ukz.1	-	7	2265	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S569L|GOLGA3_uc001ulb.3_Missense_Mutation_p.S569L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	569	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGCAGGGACGAGATCTCCGC	0.657000														87			29		0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94032908	94032909	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94032908_94032909GG>AA	uc001dpz.3	-	10	2501_2502	c.2226_2227CC>TT	c.(2224-2229)aaccat>aaTTat	p.H743Y	BCAR3_uc001dqa.3_Missense_Mutation_p.H743Y|BCAR3_uc001dqb.3_Missense_Mutation_p.H743Y|BCAR3_uc001dpx.4_Missense_Mutation_p.H419Y|BCAR3_uc001dpy.3_Missense_Mutation_p.H652Y	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	743	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	p.H743R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GTTGCCAAATGGTTCAGCATGA	0.510000														59			4		0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10927495	10927495	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:10927495G>A	uc002rau.3	-	10	1207	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	PDIA6_uc010yjg.2_Missense_Mutation_p.P354S|PDIA6_uc002rav.3_Missense_Mutation_p.P409S|PDIA6_uc010yjh.2_Missense_Mutation_p.P362S|PDIA6_uc002raw.3_Missense_Mutation_p.P405S	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	357					cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GCCATGGCGGGGTACCCAAAC	0.502000														71			8		0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004554	102004554	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:102004554C>T	uc022cbi.1	+	0	631	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	BHLHB9_uc010nog.3_Missense_Mutation_p.P211S|BHLHB9_uc011mrq.2_Missense_Mutation_p.P211S|BHLHB9_uc011mrr.2_Missense_Mutation_p.P211S|BHLHB9_uc011mrs.2_Missense_Mutation_p.P211S|BHLHB9_uc011mrt.2_Missense_Mutation_p.P211S|BHLHB9_uc004ejo.3_Missense_Mutation_p.P211S|BHLHB9_uc011mru.2_Missense_Mutation_p.P211S|BHLHB9_uc011mrv.2_Missense_Mutation_p.P211S	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	211						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAAAAATAGGCCCAAGGACTG	0.468000														161			46		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784574	30784574	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30784574A>G	uc002wxn.2	-	2	1389	c.1172T>C	c.(1171-1173)cTa>cCa	p.L391P		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	391						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCTTCATCTAGGAGGGCCGC	0.612000														32			5		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921426	46921426	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46921426C>T	uc001ndn.4	-	3	661	c.418G>A	c.(418-420)Gat>Aat	p.D140N	LRP4_uc009ylh.2_Missense_Mutation_p.D91N	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	140	LDL-receptor class A 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.D140N(2)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACTGCTCATCGCTGTTGTCG	0.617000														77			20		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954536	70954536	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:70954536C>T	uc002ezr.3	-	45	7891	c.7740G>A	c.(7738-7740)tgG>tgA	p.W2580*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2581										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)				GGGCCTGCTTCCAGCTCAAGC	0.587000														31			4		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881163	39881163	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:39881163G>A	uc001zkh.3	+	10	1828	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	THBS1_uc010bbi.3_Missense_Mutation_p.G22E	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	550	EGF-like 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.D549D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTCTCAGATGGATGCCTGTCC	0.502000														206			38		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934117	44934117	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44934117A>T	uc002oze.1	-	5	1273	c.839T>A	c.(838-840)cTt>cAt	p.L280H	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.L274H	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	280					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)				ATGCGGGGGAAGGTCTGCATC	0.433000														37			4		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20994180	20994180	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20994180C>T	uc010vbe.2	-	48	7722	c.7722G>A	c.(7720-7722)agG>agA	p.R2574R	DNAH3_uc010vbd.2_Silent_p.R9R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2574	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGGCGGTTCCTGAAGGCAT	0.507000														76			16		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000155	3000155	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:3000155G>A	uc022aqr.1	-	40	6463	c.6073C>T	c.(6073-6075)Cat>Tat	p.H2025Y	CSMD1_uc011kwj.2_Missense_Mutation_p.H1418Y|CSMD1_uc010lrg.3_Missense_Mutation_p.H94Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2026	CUB 12.					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)		AGGAAGTCATGATTAGCTTCG	0.413000														116			21		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:20683155C>T	uc010kuh.3	+	6	815	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	379					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	p.S193L(1)|p.S193*(1)		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						TCTACTTTTTCGATTGGCCTG	0.423000														81			7		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195518081	195518081	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:195518081G>A	uc021xjp.1	-	1	526	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.P6S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	129					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACACTGGAGGGAAATGATGTG	0.453000														55			5		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667021	157667021	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157667021C>T	uc001fqz.4	-	5	1045	c.753G>A	c.(751-753)tgG>tgA	p.W251*	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Nonsense_Mutation_p.W251*|FCRL3_uc001frc.1_Nonsense_Mutation_p.W251*	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	251	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGTCTTCAGTCCACATGGCAG	0.537000														67			9		0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106762982	106762982	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:106762982G>A	uc003kol.3	-	1	636	c.354C>T	c.(352-354)ttC>ttT	p.F118F	EFNA5_uc010jbr.1_Silent_p.F118F	NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	118					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TGAAGAGCTGGAATTTTTCAG	0.463000														68			5		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048115	180048115	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:180048115C>T	uc003mlz.4	-	13	2237	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	FLT4_uc003mma.4_Missense_Mutation_p.E720K|FLT4_uc003mmb.1_Missense_Mutation_p.E253K|FLT4_uc011dgy.2_Missense_Mutation_p.E720K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	720	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGACTTTTCCTCCAGCAGC	0.672000														39			5		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81902885	81902885	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:81902885C>T	uc002fgt.3	+	5	724	c.546C>T	c.(544-546)ttC>ttT	p.F182F	PLCG2_uc010chg.1_Silent_p.F182F	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	182					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTGCCAAGTTCCTTAAAGATA	0.473000														154			7		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161123349	161123349	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161123349G>A	uc003qtm.4	+	0	125	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	PLG_uc021zhr.1_Missense_Mutation_p.E5K	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	5					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAACATAAGGAAGTGGTTCT	0.368000														79			9		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215709	208215709	+	Silent	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:208215709T>A	uc001hgz.3	-	21	4778	c.4020A>T	c.(4018-4020)gtA>gtT	p.V1340V		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1340					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGTTTCCTTGTACCTGGGGTG	0.617000														60			5		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5744379	5744379	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:5744379G>A	uc001qnm.2	-	16	1827	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	590						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGATGACCACGAGGTTGATGA	0.532000														18			7		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465182	50465182	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:50465182A>G	uc001vdk.2	+	0	638	c.456A>G	c.(454-456)ttA>ttG	p.L152L						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		AAAAGGAGTTAAAAGAAGATA	0.388000														78			6		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794422	42794422	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42794422C>T	uc002otf.1	+	9	1542	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGATCCGTTCCTCCTTTACC	0.622000			"""Mis, F, S"""		oligodendroglioma									108			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444693	179444693	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179444693C>T	uc021vsy.1	-	266	59842	c.59617G>A	c.(59617-59619)Gaa>Aaa	p.E19873K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13568K|TTN_uc021vta.1_Missense_Mutation_p.E13501K|TTN_uc021vtb.1_Missense_Mutation_p.E13376K|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20800	Ig-like 110.						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)			TCACGAGTTTCACCGGGATCA	0.423000														83			10		0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27630176	27630176	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27630176C>T	uc009vst.2	+	13	2068	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	WDTC1_uc001bno.3_Silent_p.S510S|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_Silent_p.S189S	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	511							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GCAAGGACTCCATCTCAGAGG	0.592000														130			7		0	0	1	0	0
SYT14L	401135	broad.mit.edu	37	4	68928481	68928481	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:68928481C>G	uc021xou.1	-	0	507	c.346G>C	c.(346-348)Gta>Cta	p.V116L	LOC550112_uc003hdl.4_Non-coding_Transcript|TMPRSS11F_uc003hdt.1_Intron|BC041902_uc011cak.2_Non-coding_Transcript|SYT14L_uc010ihn.3_Non-coding_Transcript					RecName: Full=Putative synaptotagmin-14-like protein; AltName: Full=Synaptotagmin XIV-derived protein; AltName: Full=Synaptotagmin XIV-like protein;											endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(2)	11						TCCTTGTATACTGGATTTGGC	0.413000														49			9		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54853330	54853330	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:54853330C>T	uc002rxu.3	+	11	1852	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	SPTBN1_uc002rxv.1_Nonsense_Mutation_p.Q535*|SPTBN1_uc002rxx.3_Nonsense_Mutation_p.Q522*	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	535					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAGATATTCCAGGAAATGCT	0.517000														38			3		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40557098	40557098	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40557098C>T	uc010bbl.3	+	3	552	c.112C>T	c.(112-114)Cca>Tca	p.P38S	PAK6_uc010bbm.3_Missense_Mutation_p.P38S|PAK6_uc001zky.4_Missense_Mutation_p.P38S|PAK6_uc010bbn.3_Missense_Mutation_p.P38S|PAK6_uc001zlb.3_Missense_Mutation_p.P38S	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	38	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGGCCTCCCCCCACAATGGCA	0.592000														94			8		0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139302278	139302278	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:139302278C>T	uc004chi.3	-	4	607	c.402_splice	c.e4+1	p.K134_splice	SDCCAG3_uc004chj.3_Splice_Site_p.K111_splice|SDCCAG3_uc004chk.3_Splice_Site_p.K61_splice|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc011mdz.2_5'Flank|PMPCA_uc004chl.3_5'Flank|PMPCA_uc010nbl.3_5'Flank	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	134						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GTGGATTTACCTTTGCATAAA	0.522000														51			19		0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51064589	51064589	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:51064589G>A	uc003bna.4	-	4	976	c.714C>T	c.(712-714)atC>atT	p.I238I	ARSA_uc021wsd.1_Silent_p.I324I|ARSA_uc021wse.1_Silent_p.I324I|ARSA_uc021wsf.1_Silent_p.I324I|ARSA_uc003bmz.4_Silent_p.I322I	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	322						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GACCGGGAGCGATATGACCTG	0.662000														9			5		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134023092	134023092	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:134023092T>C	uc001qhd.1	-	33	4937	c.4331A>G	c.(4330-4332)aAa>aGa	p.K1444R	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	1444					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCCTTCAATTTTCTCTAAAAG	0.438000														126			26		0	0	1	0	0
MTCP1NB	100272147	broad.mit.edu	37	X	154290181	154290181	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:154290181G>A	uc004fmy.3	-	2	733	c.144C>T	c.(142-144)gtC>gtT	p.V48V		NM_001018024	NP_001018024	P56277	MTCNB_HUMAN	Homo sapiens mature T-cell proliferation 1 neighbor (MTCP1NB), nuclear gene encoding mitochondrial protein, mRNA.	48					cell proliferation	mitochondrion				lung(1)	1						CTGAACAGACGACAGATCTTC	0.428000														51			23		0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54011727	54011727	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:54011727G>A	uc003gzu.3	-	4	1468	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	SCFD2_uc010igm.3_Missense_Mutation_p.S445F	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	445					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAACACAACGGACATTGCTGA	0.373000														51			8		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110590218	110590218	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110590218C>T	uc010mcp.3	-	6	1125	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	SYBU_uc003yni.4_Missense_Mutation_p.E252K|SYBU_uc003ynk.4_Missense_Mutation_p.E136K|SYBU_uc003ynj.4_Missense_Mutation_p.E255K|SYBU_uc010mco.3_Missense_Mutation_p.E254K|SYBU_uc003ynl.4_Missense_Mutation_p.E254K|SYBU_uc010mcq.3_Missense_Mutation_p.E255K|SYBU_uc003yno.4_Missense_Mutation_p.E136K|SYBU_uc010mcr.3_Missense_Mutation_p.E255K|SYBU_uc003ynm.4_Missense_Mutation_p.E254K|SYBU_uc003ynn.4_Missense_Mutation_p.E254K|SYBU_uc010mcs.3_Missense_Mutation_p.E136K|SYBU_uc010mct.3_Missense_Mutation_p.E255K|SYBU_uc010mcu.3_Missense_Mutation_p.E254K|SYBU_uc003ynp.4_Missense_Mutation_p.E187K|SYBU_uc010mcv.3_Missense_Mutation_p.E255K|SYBU_uc003ynh.4_Missense_Mutation_p.E49K|SYBU_uc011lhw.2_Missense_Mutation_p.E125K	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	255	Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCATGATTTTCACCGCAAGAC	0.433000														161			11		0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056159	48056159	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:48056159C>T	uc010bek.3	+	9	1220	c.860C>T	c.(859-861)cCt>cTt	p.P287L	SEMA6D_uc001zvw.3_Missense_Mutation_p.P287L|SEMA6D_uc001zvx.1_Missense_Mutation_p.P287L|SEMA6D_uc001zvy.3_Missense_Mutation_p.P287L|SEMA6D_uc001zvz.3_Missense_Mutation_p.P287L|SEMA6D_uc001zwa.3_Missense_Mutation_p.P287L|SEMA6D_uc001zwb.3_Missense_Mutation_p.P287L|SEMA6D_uc001zwc.3_Missense_Mutation_p.P287L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	287	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTCTGTCCCTGGAGATTCG	0.493000														73			13		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871804	23871804	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:23871804C>T	uc003sws.4	+	23	2946	c.2879C>T	c.(2878-2880)tCa>tTa	p.S960L	STK31_uc003swt.4_Missense_Mutation_p.S937L|STK31_uc011jze.2_Missense_Mutation_p.S937L|STK31_uc010kuq.3_Missense_Mutation_p.S937L|STK31_uc003swv.1_Missense_Mutation_p.S126L	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	960	Protein kinase.						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						TATAGAAGTTCAATGACTGCT	0.358000														38			8		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906093	129906093	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:129906093C>T	uc001lke.3	-	12	4206	c.4011G>A	c.(4009-4011)aaG>aaA	p.K1337K	MKI67_uc001lkf.3_Silent_p.K977K|MKI67_uc009yav.1_Silent_p.K912K|MKI67_uc009yaw.1_Silent_p.K487K	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1337	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGCCTCTTCCTTAGGAGTTT	0.493000														131			29		0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265329	38265329	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:38265329C>T	uc001cby.2	+	3	909	c.828C>T	c.(826-828)tcC>tcT	p.S276S	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Silent_p.S54S	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	Homo sapiens mannosidase, endo-alpha-like (MANEAL), transcript variant 3, mRNA.	276						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTGACGTCCCCTGAGGCCT	0.572000														170			13		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825279	4825279	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4825279G>A	uc021qcs.1	-	0	332	c.332C>T	c.(331-333)tCt>tTt	p.S111F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A110V(1)		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)		CTCCACAGAAGAAAAGGCATG	0.527000														68			8		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838922	100838922	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:100838922G>A	uc003pqj.4	-	10	2083	c.1616C>T	c.(1615-1617)cCt>cTt	p.P539L	SIM1_uc021zdg.1_Missense_Mutation_p.P539L|SIM1_uc010kcu.3_Missense_Mutation_p.P539L	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	539	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCGACCCAGGGTCTGGAGA	0.433000														54			7		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204930	34204930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34204930G>A	uc001bxm.1	-	14	2356	c.2179C>T	c.(2179-2181)Cga>Tga	p.R727*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.R687*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	687	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGTTGTGTCGGAAGGCTGTG	0.512000														74			15		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398533	89398533	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:89398533C>T	uc010upo.1	+	11	3091	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	ACAN_uc010upp.1_Missense_Mutation_p.S906F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	906					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTTACTTCCACAGTGGGC	0.572000														43			4		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990302	63990302	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:63990302C>T	uc003peh.3	-	3	1188	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	385					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.W384S(1)|p.G385R(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTCATTGTATCCCCATGTTGT	0.463000														113			9		0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72291720	72291720	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:72291720C>T	uc001swu.3	+	11	1309	c.1234_splice	c.e11+1	p.E412_splice	TBC1D15_uc009zrv.2_Splice_Site|TBC1D15_uc001sww.3_Splice_Site_p.E166_splice|TBC1D15_uc010stt.2_Splice_Site_p.E403_splice|TBC1D15_uc001swv.3_Splice_Site_p.E395_splice	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	412	Rab-GAP TBC.						Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGTCTTATCGGTAATTTTT	0.353000														23			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088159	9088159	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9088159G>A	uc002mkp.3	-	0	3860	c.3656C>T	c.(3655-3657)cCc>cTc	p.P1219L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1219	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1219S(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						AGTGTCCAAGGGAACCAGGGT	0.507000														220			47		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799381	212799381	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:212799381G>A	uc010pth.1	-	0		c.733C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.D388N			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCAGACATGGATGCAGCAGC	0.612000														45			9		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242206224	242206224	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242206224G>A	uc002waz.3	-	2	234	c.61C>T	c.(61-63)Ccg>Tcg	p.P21S	HDLBP_uc002wba.3_Missense_Mutation_p.P21S|HDLBP_uc021vzg.1_Missense_Mutation_p.P57S|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	21					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATTTGTTGCGGAACCAGCCCA	0.468000														72			7		0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36091719	36091719	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36091719C>T	uc002hok.4	-	3	1133	c.912G>A	c.(910-912)agG>agA	p.R304R	HNF1B_uc021tvu.1_Silent_p.R74R|HNF1B_uc010wdi.2_Silent_p.R278R|HNF1B_uc021tvv.1_Silent_p.R304R|HNF1B_uc021tvw.1_Silent_p.R278R|HNF1B_uc010cve.1_Silent_p.R112R	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	304					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCTCCTCCTTCCTGCGGTTTG	0.607000														95			8		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51944770	51944770	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:51944770G>A	uc003pah.1	-	4	594	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PKHD1_uc003pai.3_Silent_p.F106F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	106	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)					ATGCTTCCAGGAAGTACAGAC	0.483000														172			11		0	0	1	0	0
MRPL35	51318	broad.mit.edu	37	2	86434390	86434390	+	Silent	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86434390C>G	uc002srg.4	+	2	376	c.318C>G	c.(316-318)acC>acG	p.T106T	MRPL35_uc002srf.4_Silent_p.T106T	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	Homo sapiens mitochondrial ribosomal protein L35 (MRPL35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	106					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGAGAAAGACCGTGAAAGCTG	0.423000														54			7		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407878	49407878	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:49407878G>A	uc002efr.3	+	0	71	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	10										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGACCTGAAGGATTTAATGCC	0.532000														99			4		0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818869	99818869	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99818869C>T	uc003uue.2	+	6	1348	c.976C>T	c.(976-978)Cga>Tga	p.R326*	GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|GATS_uc011kjl.2_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Nonsense_Mutation_p.R326*	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	Homo sapiens poliovirus receptor related immunoglobulin domain containing (PVRIG), mRNA.	326						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTAGGAGTTCGATGAGAGAG	0.607000														19			3		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175649825	175649825	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:175649825G>A	uc003ity.1	-	3	795	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	GLRA3_uc003itz.1_Missense_Mutation_p.R98C	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	98					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R98C(2)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CATTTCTGACGAAGAAAGATA	0.383000														26			7		0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847306	29847306	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:29847306G>A	uc002wvp.1	+	1	138	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	46					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGATGCAGGAAATCATGCA	0.328000														31			8		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361968	83361968	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:83361968C>T	uc004eej.2	-	13	1228	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	RPS6KA6_uc011mqt.2_Missense_Mutation_p.E398K|RPS6KA6_uc011mqu.2_Missense_Mutation_p.E295K	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	398	AGC-kinase C-terminal.				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						ATTTTATATTCTTCTGCAATA	0.353000														14			11		0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876588	148876588	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:148876588C>T	uc011kum.2	+	6	1780	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	ZNF398_uc011kul.2_Missense_Mutation_p.P371S|ZNF398_uc003wfl.3_Missense_Mutation_p.P542S	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	542					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTTCAGTTGTCCTCACTGTGG	0.617000														93			6		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121483	50121483	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50121483G>A	uc001jhd.3	-	0	798	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.L240L	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	240						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGTGAGATCAGATTGGGAAAG	0.537000														74			17		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614285	15614285	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:15614285G>A	uc001ioc.1	-	24	2562	c.2562C>T	c.(2560-2562)ctC>ctT	p.L854L	ITGA8_uc010qcb.1_Silent_p.L839L	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	854					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						GGAAAATATAGAGAAGAAATT	0.453000														71			12		0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136265574	136265574	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:136265574T>A	uc004cdk.3	+	11	1176	c.1115T>A	c.(1114-1116)gTg>gAg	p.V372E	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	372							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGGAGGTGGTGGTCACGACC	0.657000														36			14		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780767	94780767	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94780767G>A	uc001ycv.3	-	1	323	c.219C>T	c.(217-219)gcC>gcT	p.A73A	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	73					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCATAGCTAAGGCCATGGAGA	0.547000														52			4		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553446	140553446	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140553446C>T	uc003lit.3	+	0	1204	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACGATAATCGACCCGAGCT	0.458000														25			4		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183883995	183883995	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:183883995T>G	uc003fms.3	+	7	985	c.845T>G	c.(844-846)aTg>aGg	p.M282R	DVL3_uc011bqw.2_Missense_Mutation_p.M282R|DVL3_uc003fmt.3_5'UTR|DVL3_uc003fmu.3_Missense_Mutation_p.M114R	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	282	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.M282T(2)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGCTCTATCATGAAGGGTGGG	0.512000														80			19		0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374462	1374462	+	Splice_Site	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1374462C>G	uc001afs.3	+	3	858	c.632_splice	c.e3-1	p.D211_splice	VWA1_uc001afr.3_Splice_Site	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	211	Fibronectin type-III 1.|VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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;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)		CACCCACAGACGCGATGCGGC	0.677000														30			6		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45857994	45857994	+	Nonsense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:45857994A>C	uc002pbj.2	-	16	1706	c.1659T>G	c.(1657-1659)taT>taG	p.Y553*	ERCC2_uc002pbh.2_Nonsense_Mutation_p.Y116*|ERCC2_uc002pbi.2_Nonsense_Mutation_p.Y246*|ERCC2_uc010ejz.2_Nonsense_Mutation_p.Y475*|ERCC2_uc002pbk.2_Nonsense_Mutation_p.Y529*	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	553	Mediates interaction with MMS19.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTACCTGCTCATACCAGGAGG	0.597000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					90			17		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524804	10524804	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:10524804G>A	uc002czw.3	+	1	486	c.327G>A	c.(325-327)ttG>ttA	p.L109L	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Silent_p.L109L|ATF7IP2_uc002czv.3_Silent_p.L109L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAACAAAATTGGAACAAGTTG	0.348000														60			7		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55505754	55505754	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55505754G>A	uc021vbq.1	+	10	2937	c.2826G>A	c.(2824-2826)atG>atA	p.M942I	NLRP2_uc010yfp.2_Missense_Mutation_p.M919I|NLRP2_uc002qij.3_Missense_Mutation_p.M942I|NLRP2_uc010esp.3_Missense_Mutation_p.M920I|NLRP2_uc010esn.3_Missense_Mutation_p.M918I|NLRP2_uc010eso.3_Missense_Mutation_p.M939I	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	942					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTAAGGGAATGAAGTTCCTGT	0.428000														84			15		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36767898	36767898	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:36767898G>A	uc002xhr.3	-	8	1358	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	TGM2_uc010zvx.2_Silent_p.L339L|TGM2_uc010zvy.2_Silent_p.L360L|TGM2_uc002xhs.1_Silent_p.L396L|TGM2_uc002xht.3_Silent_p.L420L|DJ417906_uc021wdl.1_5'Flank	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	420					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCAACGATCAGGGAACGGTTG	0.557000														52			14		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23937629	23937629	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:23937629G>A	uc002nrk.4	-	2	364	c.222C>T	c.(220-222)ccC>ccT	p.P74P	ZNF681_uc002nrl.4_Silent_p.P5P|ZNF681_uc002nrj.4_Silent_p.P5P|ZNF681_uc002nrm.1_Non-coding_Transcript	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACCTACCTGGGGGTTCGGCCA	0.428000														57			9		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163011	72163011	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72163011C>T	uc002fcc.4	-	12	2091	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E	PMFBP1_uc002fcd.3_Missense_Mutation_p.G635E|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.G490E|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	640								p.A639T(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCAAGTTCTCCCTCCATCAG	0.488000														230			64		0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109859567	109859567	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:109859567G>A	uc001dxm.2	-	16	2204	c.2155C>T	c.(2155-2157)Cca>Tca	p.P719S	SORT1_uc010ovi.2_Missense_Mutation_p.P582S	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	719	Interactions with LRPAP1 and NGFB.				Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGTCCCCTGGAATTTTCCGG	0.413000														90			26		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62777950	62777950	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:62777950T>C	uc001src.2	+	10	1415	c.1340T>C	c.(1339-1341)gTt>gCt	p.V447A	USP15_uc001srb.2_Missense_Mutation_p.V418A	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	447					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L447L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAACTTTAGTTTGTCCTGAG	0.363000														45			3		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43023388	43023388	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43023388C>T	uc002otv.3	-	5	1094	c.959_splice	c.e5-1	p.E320_splice	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_Intron|CEACAM1_uc010eij.3_Splice_Site_p.E320_splice|CEACAM1_uc002otw.3_Splice_Site_p.E320_splice|CEACAM1_uc002otx.3_Intron|CEACAM1_uc002oty.3_Intron|CEACAM1_uc002otz.3_Intron|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Intron|CEACAM1_uc002oub.3_Intron	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	320					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGACTTAGCTCTGTGGACAAG	0.507000														105			9		0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756666	756666	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:756666G>A	uc002kky.3	-	1	383	c.162C>T	c.(160-162)ttC>ttT	p.F54F	YES1_uc002kkz.3_Silent_p.F54F	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	54					T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	AAAGACTGCTGAAATTAACTG	0.488000														138			38		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410681	23410681	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:23410681C>T	uc004dal.4	+	2	1054	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	349	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GAAATGTTATCCTCCTGGAGG	0.413000														16			11		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327786	67327786	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:67327786G>A	uc002esu.2	-	11	1930	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	KCTD19_uc002est.2_Missense_Mutation_p.P399S|KCTD19_uc010vjj.1_Missense_Mutation_p.P370S	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	627						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGGCGGGAGGGTCTTTGGTT	0.527000														127			12		0	0	1	0	0
C21orf58	54058	broad.mit.edu	37	21	47731394	47731394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:47731394G>A	uc002zjf.3	-	5	1830	c.697C>T	c.(697-699)Caa>Taa	p.Q233*	C21orf58_uc002ziz.3_Nonsense_Mutation_p.Q150*|C21orf58_uc002zja.3_Nonsense_Mutation_p.Q127*|C21orf58_uc002zjc.3_Nonsense_Mutation_p.Q127*|C21orf58_uc011afx.2_Nonsense_Mutation_p.Q127*|C21orf58_uc010gqj.2_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	Homo sapiens chromosome 21 open reading frame 58 (C21orf58), mRNA.	233										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CCTGACCGTTGAGTAGGGAAG	0.498000														13			3		0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1014276	1014276	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:1014276G>A	uc002lqr.1	-	1	568	c.422C>T	c.(421-423)gCc>gTc	p.A141V	C19orf6_uc002lqs.1_Missense_Mutation_p.A141V	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	141						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTTCCACGGCCAGGCCCGG	0.637000														70			8		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	422676	422676	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:422676G>A	uc002cgu.4	-	11	2083	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	MRPL28_uc002cgs.2_5'Flank|TMEM8A_uc002cgv.4_Missense_Mutation_p.R459C	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	652					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						ATGCCCCTGCGGTCCAGCTGC	0.617000														74			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516835	179516835	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179516835G>A	uc021vsy.1	-	157	32206	c.31981C>T	c.(31981-31983)Cct>Tct	p.P10661S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11588	Glu-rich.|Pro-rich.						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)			TCAGGGGGAGGACTTTCCGGT	0.343000														92			8		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154069	5154069	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:5154069C>T	uc001qni.3	+	0	985	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	252						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CGCGGGCCATCGCCATCGTCT	0.587000														158			13		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22433746	22433746	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22433746C>T	uc021rpm.1	+	0	49	c.11C>T	c.(10-12)tCc>tTc	p.S4F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		ATGATGAAATCCTTGAGAGTT	0.348000														51			4		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71543030	71543030	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:71543030C>T	uc001xmo.2	+	27	5677	c.5231C>T	c.(5230-5232)cCa>cTa	p.P1744L	PCNX_uc010are.1_Missense_Mutation_p.P1633L|PCNX_uc010arf.1_Missense_Mutation_p.P532L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1744						integral to membrane		p.P1744P(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACCTTTAATCCAAACATTGAT	0.468000														63			13		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830681	46830681	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46830681C>T	uc003oyo.3	-	14	2432	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	GPR116_uc011dwj.1_Missense_Mutation_p.E270K|GPR116_uc011dwk.1_Missense_Mutation_p.E144K|GPR116_uc003oyp.3_Missense_Mutation_p.E573K|GPR116_uc003oyq.3_Missense_Mutation_p.E715K|GPR116_uc010jzi.1_Missense_Mutation_p.E387K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	715					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTCTTCTCCTCCCACTGG	0.522000														210			9		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348300	155348300	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155348300G>A	uc009wqq.3	-	8	6712	c.6232C>T	c.(6232-6234)Cgt>Tgt	p.R2078C	ASH1L_uc001fkt.3_Missense_Mutation_p.R2073C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2078					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.Y2077Y(1)|p.R2073C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACTTGAACGAATTTTCTTA	0.343000														41			8		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355560	10355560	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10355560C>T	uc002gmn.3	-	26	3547	c.3436G>A	c.(3436-3438)Gag>Aag	p.E1146K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1146					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1145L(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						TCCTCCAGCTCCCGGGAGAGG	0.597000														102			12		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221186	63221186	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:63221186C>T	uc002jfe.3	+	17	1677	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	RGS9_uc010dem.3_Missense_Mutation_p.P489S|RGS9_uc002jfd.3_Missense_Mutation_p.P489S|RGS9_uc002jfg.3_Missense_Mutation_p.P263S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	492					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCCCCCGTCTCCTTCTAGCCC	0.652000														169			22		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119028227	119028227	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:119028227C>T	uc004bjn.3	+	7	3205	c.2824C>T	c.(2824-2826)Cat>Tat	p.H942Y	PAPPA_uc011lxp.1_Missense_Mutation_p.H637Y|PAPPA_uc011lxq.2_Missense_Mutation_p.H317Y	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	942					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						CACATACATCCATGGAAGTGG	0.428000														46			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083098	9083098	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9083098G>A	uc002mkp.3	-	0	8921	c.8717C>T	c.(8716-8718)tCt>tTt	p.S2906F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2907	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						AGTTGGTAAAGAAGCGGACTT	0.493000														46			5		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185020	130185020	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130185020G>A	uc009zyl.1	-	1	631	c.303C>T	c.(301-303)tcC>tcT	p.S101S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	101						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTGCTCGATGGAGAAAGGCC	0.488000														55			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250854	140250854	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140250854G>A	uc003lia.2	+	0	3024	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	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_Nonsense_Mutation_p.W722*	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	732					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)			CGCTGTGGTGGTCGGCAACGC	0.667000														62			12		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24114042	24114042	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:24114042G>A	uc001wkt.4	+	7	1140	c.693G>A	c.(691-693)atG>atA	p.M231I	DHRS2_uc001wku.4_Missense_Mutation_p.G228R|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCAGTTTCATGGGAATGAGTC	0.537000														47			8		0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485318	52485318	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52485318G>A	uc003deb.3	-	5	485	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	153	EF-hand 4.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	TGAACTCCAGGAACTCTGTGG	0.607000														40			6		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														29			12		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531855	50531855	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50531855C>T	uc021pqb.1	+	0	1265	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	C10orf71_uc021pqa.1_Missense_Mutation_p.S421L|C10orf71_uc021pqc.1_Missense_Mutation_p.S422L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	422										endometrium(1)	1						GAACAGTTTTCAGAAAACAAT	0.448000														105			6		0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349554	103349554	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:103349554G>A	uc022cbz.1	-	0	387	c.387C>T	c.(385-387)gcC>gcT	p.A129A	SLC25A53_uc004elu.3_Silent_p.A129A	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	129					transport	integral to membrane|mitochondrial inner membrane											TGAGTGCCACGGCCTCCACCA	0.572000														92			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9080501C>T	uc002mkp.3	-	1	9734	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(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						CGTGGAATTTCCTTGTGCTGC	0.498000														119			6		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519780	23519780	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:23519780G>A	uc001bgn.3	-	0	1443	c.933C>T	c.(931-933)atC>atT	p.I311I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	311					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCAGCAGATGATAAAGGCCC	0.552000														93			30		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414348	48414348	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48414348C>T	uc001jfa.1	-	1	680	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	174					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCAGAACATCATAAATGACC	0.517000														28			4		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809781	215809781	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:215809781C>T	uc002vew.3	-	48	7507	c.7287G>A	c.(7285-7287)tgG>tgA	p.W2429*	ABCA12_uc002vev.3_Nonsense_Mutation_p.W2111*|ABCA12_uc010zjn.2_Nonsense_Mutation_p.W1356*	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2429	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAATGATCTTCCAGAGGTGCC	0.388000														29			3		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179530429	179530429	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:179530429C>T	uc001gmq.4	-	2	531	c.446G>A	c.(445-447)gGc>gAc	p.G149D	NPHS2_uc009wxi.3_Missense_Mutation_p.G149D	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	149					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTTACCAGGGCCTTTGGCTCT	0.378000														201			15		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40062678	40062678	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40062678G>A	uc001zki.3	-	2	478	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	87										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATCTTCATCTGATCCCTCTTC	0.378000														92			6		0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662697	5662697	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:5662697G>A	uc003sox.2	-	16	2825	c.2566C>T	c.(2566-2568)Ccc>Tcc	p.P856S	RNF216_uc010ksz.2_Missense_Mutation_p.P421S|RNF216_uc010kta.2_Missense_Mutation_p.P421S|RNF216_uc003soy.2_Missense_Mutation_p.P799S|RNF216_uc011jwj.2_Missense_Mutation_p.P421S	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	799	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AAGGCATAGGGTGGCATCTGT	0.657000														97			11		0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33744963	33744963	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33744963A>G	uc011drm.2	-	6	1223	c.1210T>C	c.(1210-1212)Tta>Cta	p.L404L	LEMD2_uc010jvg.3_Silent_p.L113L|LEMD2_uc011drl.2_Silent_p.L102L	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	404						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TCCTCTTCTAACTTTCGCCAC	0.493000														232			17		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060228	16060228	+	Missense_Mutation	SNP	G	A	A	rs150172076		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:16060228G>A	uc010xov.2	+	0	411	c.411G>A	c.(409-411)atG>atA	p.M137I		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGTGCTCATGAGCCCCCGTG	0.537000														123			13		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205497216	205497216	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:205497216C>T	uc001hcr.3	+	9	1246	c.984C>T	c.(982-984)tcC>tcT	p.S328S	CDK18_uc001hcp.3_Silent_p.S298S|CDK18_uc001hcq.3_Silent_p.S298S|CDK18_uc010prj.2_Silent_p.S209S|CDK18_uc001hcs.3_Silent_p.S209S|CDK18_uc009xbm.1_Silent_p.S223S	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	296	Protein kinase.						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						AGACTTACTCCAATGAGGTGG	0.587000														44			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106552703	106552703	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:106552703G>A	uc021ser.1	-	1993		c.36555C>T								Parts of antibodies, mostly variable regions.																		TAGCCAAAAGGAAAATCCAGC	0.478000														57			15		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75434918	75434918	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:75434918C>T	uc009zry.3	-	3	1868	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	KCNC2_uc001sxe.3_3'UTR|KCNC2_uc001sxf.3_3'UTR	NM_139136	NP_631874	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 1, mRNA.	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCAGTATAGTCCTTGGTATGG	0.443000														42			5		0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118074365	118074365	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:118074365G>A	uc001psk.2	-	5	724	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	AMICA1_uc001psg.2_5'UTR|AMICA1_uc001psh.2_Missense_Mutation_p.R145C|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.R174C|AMICA1_uc010rxw.1_Missense_Mutation_p.R145C|AMICA1_uc010rxx.1_Missense_Mutation_p.R184C|AMICA1_uc001psl.1_Missense_Mutation_p.R140C	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	184	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.R174G(1)|p.V183A(1)|p.R174C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		TGGTAGTAACGAAATACAATC	0.502000														63			13		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128643239	128643239	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128643239C>T	uc003qbk.3	-	2	807	c.440G>A	c.(439-441)aGa>aAa	p.R147K	PTPRK_uc010kfc.3_Missense_Mutation_p.R147K|PTPRK_uc003qbj.3_Missense_Mutation_p.R147K|PTPRK_uc011ebu.2_Missense_Mutation_p.R147K|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.R147K|PTPRK_uc003qbm.4_Missense_Mutation_p.R76K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	147	MAM.				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)		AAGCCAATCTCTACCCGTGAA	0.433000														58			9		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22186564	22186564	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:22186564G>A	uc003svg.3	-	18	1812	c.1499C>T	c.(1498-1500)gCt>gTt	p.A500V	RAPGEF5_uc011jyl.1_Missense_Mutation_p.A181V	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	350	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TAATTCCAGAGCAAGATCCCA	0.358000														82			16		0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37163008	37163008	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:37163008G>A	uc003cgp.2	-	6	728	c.305C>T	c.(304-306)tCc>tTc	p.S102F	LRRFIP2_uc011ayf.1_Missense_Mutation_p.S85F|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	102	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTTCGAATGGACAATGCATC	0.358000														48			6		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103968	53103968	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:53103968G>A	uc003tpz.3	+	0	620	c.604G>A	c.(604-606)Gac>Aac	p.D202N		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	202										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGAGGTCTCAGACAGCAAGGG	0.672000														93			7		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117182136	117182136	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117182136G>A	uc003vjd.3	+	8	1315	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	395					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGTAGTGATGGAGAATGTAAC	0.308000									Cystic Fibrosis					25			11		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52862859	52862859	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:52862859C>T	uc001sal.4	-	8	1730	c.1682G>A	c.(1681-1683)aGc>aAc	p.S561N		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	561	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGCTTGTAGCTCTTCCTGCT	0.602000														84			6		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111215820	111215820	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:111215820T>C	uc001dzv.1	-	0	1836	c.1612A>G	c.(1612-1614)Aac>Gac	p.N538D		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	538						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGCTATGGTTCATACCCCCC	0.502000														75			18		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039470	55039470	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55039470T>A	uc003pcl.3	+	0	400	c.85T>A	c.(85-87)Tta>Ata	p.L29I	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	29					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGAGCCCTTTTTAAACCCCAC	0.547000														157			19		0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409822	30409822	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:30409822C>T	uc002dya.2	+	1	1627	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	ZNF48_uc021tgi.1_Silent_p.P417P|ZNF48_uc021tgj.1_Silent_p.P294P|ZNF48_uc021tgk.1_Silent_p.P417P	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	417	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CTCGAAGTCCCTCACACTCGG	0.697000														45			6		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391211	391211	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:391211C>T	uc003bot.3	+	9	1660	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	CHL1_uc003bou.3_Missense_Mutation_p.H324Y|CHL1_uc003bow.2_Missense_Mutation_p.H324Y|CHL1_uc011asi.2_Missense_Mutation_p.H340Y	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	324	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCACGATTTTCACGTTATAGT	0.393000														98			8		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746553	95746553	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:95746553G>A	uc003kls.2	-	7	1259	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Silent_p.S293S	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	340	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGTACCAGGGGGATAGGCCTT	0.537000														148			40		0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15770004	15770004	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:15770004C>T	uc001awi.1	+	4	470	c.447C>T	c.(445-447)ctC>ctT	p.L149L	CTRC_uc001awj.1_Silent_p.L149L	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	149	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCCTGCTCCCCAAGGACT	0.582000														208			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175015	140175015	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140175015G>A	uc003lhd.2	+	0	572	c.466G>A	c.(466-468)Gga>Aga	p.G156R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.G156R|PCDHAC2_uc011czy.2_Missense_Mutation_p.G156R	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	171	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G156*(2)		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)			TCCTCTAGAGGGAGCATCTGA	0.438000														82			4		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782383	62782383	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:62782383G>A	uc009yon.3	-	1	169	c.48C>T	c.(46-48)ttC>ttT	p.F16F	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Silent_p.F16F|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Silent_p.F16F	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	16					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCAGGAACTGGAAATGGCCCA	0.607000														116			16		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866047	139866047	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:139866047C>T	uc004fbg.1	-	0	677	c.485G>A	c.(484-486)aGa>aAa	p.R162K	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	162	6 X 6 AA approximate repeats.							p.R162I(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAATCCAAGTCTTCCGGATAA	0.448000														147			34		0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64708943	64708943	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:64708943C>T	uc010nko.3	+	0	329	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	77							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCTAGATCGTCCAAGTTT	0.502000														52			14		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011946	73011946	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:73011946G>A	uc003tyn.1	-	8	1217	c.1169C>T	c.(1168-1170)cCt>cTt	p.P390L	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.P390L|MLXIPL_uc003tym.1_Missense_Mutation_p.P390L|MLXIPL_uc003tyl.1_Missense_Mutation_p.P390L|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.P297L|MLXIPL_uc003tyq.1_Missense_Mutation_p.P132L	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	390	Poly-Pro.				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)				TGGGGGTACAGGAGGGGGTGG	0.667000														8			5		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076944	41076944	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:41076944G>A	uc002xkg.3	-	8	1660	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	PTPRT_uc010ggj.3_Silent_p.S492S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	492	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S492F(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCCTTGGATGGATTCTAGAG	0.507000														121			23		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34874019	34874019	+	Missense_Mutation	SNP	G	A	A	rs116249859	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:34874019G>A	uc003teh.1	+	5	832	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.R235Q|NPSR1_uc010kwt.1_Missense_Mutation_p.R82Q|NPSR1_uc010kwu.1_Missense_Mutation_p.R25Q|NPSR1_uc010kwv.1_Missense_Mutation_p.R169Q|NPSR1_uc003tei.1_Missense_Mutation_p.R235Q|NPSR1_uc010kww.1_Missense_Mutation_p.R224Q|NPSR1_uc011kar.1_Missense_Mutation_p.R169Q|NPSR1-AS1_uc010kwy.3_5'Flank|NPSR1-AS1_uc003tek.4_5'Flank	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	235						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.R235Q(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATTGTGATCCGAACTATTTGG	0.438000														64			6		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92623781	92623781	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:92623781C>T	uc001pdj.4	+	24	13193	c.13176C>T	c.(13174-13176)agC>agT	p.S4392S	FAT3_uc001pdi.4_Silent_p.S864S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4424					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)				AGCTGGAGAGCGATTACTACC	0.587000										TCGA Ovarian(4;0.039)				37			5		0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75773500	75773500	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:75773500G>A	uc004ajf.1	+	1	123	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	ANXA1_uc004ajg.1_Missense_Mutation_p.E17K	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	17					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TATTGAAAATGAAGAGCAGGA	0.289000														53			13		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141629991	141629991	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141629991G>A	uc003vwv.1	-	6	677	c.480C>T	c.(478-480)aaC>aaT	p.N160N	CLEC5A_uc011krm.1_Missense_Mutation_p.T136I|CLEC5A_uc003vww.1_Silent_p.N159N|CLEC5A_uc010lnq.1_Silent_p.N137N|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	160	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGGTCGCACAGTTGAAATTCT	0.393000														46			24		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109359	36109359	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36109359C>T	uc002oam.1	+	10	928	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	293					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CATGGTTCATCTCATCCAGGT	0.627000														64			6		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142119876	142119876	+	Silent	SNP	C	T	T	rs143496004	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142119876C>T	uc022anf.1	-	1	335	c.306G>A	c.(304-306)acG>acA	p.T102T	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCGCTGAATCGTCAGAGTGG	0.537000														78			4		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169454911	169454911	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:169454911G>A	uc003maf.3	+	33	3506	c.3426G>A	c.(3424-3426)ggG>ggA	p.G1142G	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.G634G|MIR378E_uc021yhn.1_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1142	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTAGAAGGGGGCCGAGGCG	0.512000														48			5		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488310	108488310	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:108488310C>T	uc010ywk.2	+	19	3932	c.3850C>T	c.(3850-3852)Cat>Tat	p.H1284Y	RGPD4_uc002tdu.3_Missense_Mutation_p.H471Y|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1284					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAATCTTTTCCATTTTGGTGA	0.408000														258			42		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102487583	102487583	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102487583G>A	uc001phc.3	-	1	347	c.334C>T	c.(334-336)Cct>Tct	p.P112S		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	112					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GGTTCACCAGGGAAGAGGCGA	0.443000														33			4		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60419758	60419758	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60419758G>A	uc002ybn.2	+	4	699	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDH4_uc002ybr.2_Missense_Mutation_p.R167Q|CDH4_uc002ybp.2_Missense_Mutation_p.R130Q	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	204	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			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)			ATCCCCATCCGGTACAGCATC	0.607000														88			6		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517797	158517797	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158517797G>A	uc010pil.2	-	0	99	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGAAAATGGAGAAAAAGAGAA	0.443000														35			12		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124413431C>T	uc010sam.2	-	0	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		AGCCCAGGTTCCCCACCACGG	0.502000														53			12		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137708471	137708471	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:137708471C>T	uc003lcy.1	+	1	501	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	101					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						ATGGGCGCCCCGTGAGGACCC	0.522000														36			6		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45216730	45216730	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:45216730G>A	uc002xsf.2	-	7	1129	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	SLC13A3_uc010ghn.2_Silent_p.F332F|SLC13A3_uc010zxx.2_Silent_p.F265F|SLC13A3_uc010zxw.2_Silent_p.F313F|SLC13A3_uc002xsg.2_Silent_p.F316F|SLC13A3_uc010gho.2_Intron	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	363						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGCCAGGGATGAACTTCGGGT	0.587000														44			10		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71026020	71026020	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:71026020G>A	uc002ezr.3	-	23	3889	c.3738C>T	c.(3736-3738)atC>atT	p.I1246I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1246										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)				CTGTAACTAGGATTGCTGGTG	0.458000														32			8		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778761	36778761	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:36778761C>T	uc003cgi.2	-	1	1881	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	464	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGACGAGGGCTTTGCATAAG	0.517000														38			6		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117692467	117692467	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:117692467G>A	uc004bji.2	-	0	409	c.117C>T	c.(115-117)ttC>ttT	p.F39F	TNFSF8_uc022bmi.1_Silent_p.F39F	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	39					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.F39V(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TGGTCAAATAGAAATAGCTGC	0.592000														77			35		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2959073	2959073	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2959073G>A	uc003smv.3	-	17	2777	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	815				L -> P (in Ref. 1; AAG53402).	T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCGCGCACAGCCACTCGTGC	0.607000			Mis		DLBCL									46			8		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124096241	124096241	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124096241G>A	uc010saf.2	+	0	844	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	282						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)		CAGCTCCATGGACCAGGGGAA	0.473000														35			4		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43281849	43281849	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43281849G>A	uc002yzq.1	-	6	825	c.714C>T	c.(712-714)ttC>ttT	p.F238F	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CACAGTCACTGAACTTGTGTG	0.493000														18			3		0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33796694	33796694	+	Missense_Mutation	SNP	G	A	A	rs3831310		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:33796694G>A	uc003ztj.4	+	1	316	c.265G>A	c.(265-267)Gag>Aag	p.E89K	PRSS3_uc003zti.4_Missense_Mutation_p.E46K|PRSS3_uc022bfu.1_Missense_Mutation_p.E25K|PRSS3_uc003ztl.4_Missense_Mutation_p.E32K	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	89	Peptidase S1.			Missing (in Ref. 1; CAA50484).	digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	p.N89H(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CACCTGTGAGGAGAATTCTCT	0.532000														116			29		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31424225	31424225	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:31424225G>A	uc010cap.1	+	14	1826	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	ITGAD_uc002ebv.1_Missense_Mutation_p.D592N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	592					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L593L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGGGGTCAGGACCTCACCCA	0.652000														79			8		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052803	193052803	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193052803C>T	uc011bsq.2	-	9	1029	c.1029G>A	c.(1027-1029)agG>agA	p.R343R		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	343					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGACGTGTTTCCTATAATCCT	0.463000														92			20		0	0	1	0	0
ALKBH8	91801	broad.mit.edu	37	11	107422621	107422621	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:107422621C>T	uc010rvr.2	-	5	688	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ALKBH8_uc001pjk.3_5'UTR|ALKBH8_uc010rvq.2_Missense_Mutation_p.E68K|ALKBH8_uc009yxp.3_Missense_Mutation_p.E205K|ALKBH8_uc001pjl.3_Non-coding_Transcript	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	Homo sapiens alkB, alkylation repair homolog 8 (E. coli) (ALKBH8), mRNA.	205					response to DNA damage stimulus	cytosol|nucleus	RNA binding|metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AAAAAGCTTTCACAAATGTCA	0.313000														25			4		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209779668	209779668	+	Missense_Mutation	SNP	G	A	A	rs147371769		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:209779668G>A	uc001hhd.3	+	5	541	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CAMK1G_uc001hhf.4_Missense_Mutation_p.E147K|CAMK1G_uc001hhe.3_Missense_Mutation_p.E147K	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	147	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.P146P(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCTACAGCCCGAAAACCTGCT	0.438000														140			25		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763353	31763353	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31763353C>T	uc002wyo.1	+	4	622	c.551C>T	c.(550-552)tCc>tTc	p.S184F		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	184						extracellular region	lipid binding										ATCTCACTTTCCTTGCTGGAC	0.532000														91			5		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212908	131212908	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:131212908C>T	uc004ewn.3	-	11	1315	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	FRMD7_uc022cdy.1_Silent_p.R259R|FRMD7_uc011muy.2_Silent_p.R364R	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	379					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					aattcctcctcctactctcca	0.493000														117			27		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335512	20335512	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20335512G>A	uc002dgv.3	-	2	244	c.161C>T	c.(160-162)cCa>cTa	p.P54L	GP2_uc002dgw.3_Missense_Mutation_p.P54L|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	54						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGAGCCTCTGGGGTGCCAGG	0.547000														55			11		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720109	179720109	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179720109C>T	uc002une.2	-	18	3143	c.3025G>A	c.(3025-3027)Gac>Aac	p.D1009N	CCDC141_uc002unf.1_Missense_Mutation_p.D488N	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	434							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)			TCAGTCAGGTCCAAATTCTTC	0.353000														42			16		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315892	50315892	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50315892G>A	uc001jhf.2	-	1	233	c.204C>T	c.(202-204)ttC>ttT	p.F68F	VSTM4_uc001jhh.2_Silent_p.F68F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	68	Ig-like.		F -> S (in dbSNP:rs13088).			integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CCTGGGAGTCGAAGGAGTGTG	0.607000														38			13		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15501380	15501380	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:15501380C>T	uc003nbj.3	+	7	2432	c.2188C>T	c.(2188-2190)Ctg>Ttg	p.L730L	JARID2_uc011div.2_Silent_p.L558L|JARID2_uc011diw.1_Silent_p.L692L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	730					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAAGGAGATCCTGGAGAAGCG	0.627000														162			38		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842555	123842555	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123842555G>A	uc001lfv.3	+	3	900	c.540G>A	c.(538-540)aaG>aaA	p.K180K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.K180K|TACC2_uc010qtv.2_Silent_p.K180K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	180						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.P179A(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACAGCCGAAGGAAGAAGGAC	0.577000														19			5		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670052	1670052	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:1670052C>T	uc002qxa.3	-	9	1289	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	PXDN_uc002qxb.1_Missense_Mutation_p.E409K|PXDN_uc002qxc.1_Missense_Mutation_p.E226K	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	409	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACGCATACTCTCCGCTGTCC	0.592000														46			5		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99270295	99270295	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99270295C>T	uc003urq.3	-	3	328	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Missense_Mutation_p.E66K|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.E76K	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	76					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGTTGACCTTCATACGTTCTG	0.473000														139			10		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023508	206023508	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:206023508C>T	uc002var.2	+	10	1704	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	PARD3B_uc010fub.2_Silent_p.I499I|PARD3B_uc002vao.2_Silent_p.I499I|PARD3B_uc002vap.2_Intron|PARD3B_uc002vaq.2_Silent_p.I499I	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	499	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCTTTGAGATCCCCCTGAATG	0.468000														98			20		0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36235043	36235043	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36235043G>A	uc002obg.3	-	4	367	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_5'UTR|U2AF1L4_uc002obe.3_Missense_Mutation_p.R79W|U2AF1L4_uc002obf.3_Missense_Mutation_p.R79W|U2AF1L4_uc002obh.1_5'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA.	118					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCCCTCCGGAACTGCAGG	0.572000														21			5		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956018	18956018	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:18956018G>A	uc001mpg.3	-	0	532	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	105					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAAAGTAGGAAAACATCAT	0.547000														112			18		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987731	61987731	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:61987731G>A	uc001vid.4	-	1	865	c.501C>T	c.(499-501)tcC>tcT	p.S167S	PCDH20_uc010thj.2_Silent_p.S167S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	140	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGAGGAGATGGAAACGCTGC	0.562000														29			7		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6377611	6377611	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:6377611C>T	uc003gja.3	-	3	406	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	PPP2R2C_uc003gjb.3_Missense_Mutation_p.E111K|PPP2R2C_uc003gjc.3_Missense_Mutation_p.E128K|PPP2R2C_uc011bwd.2_Missense_Mutation_p.E121K|PPP2R2C_uc011bwe.2_Missense_Mutation_p.E121K|PPP2R2C_uc003gjd.1_Missense_Mutation_p.E216K	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	128					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.E128K(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TTGTATCCTTCGGGCCTTTTA	0.463000														89			28		0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246584	80246584	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:80246584C>T	uc003hlt.4	-	0	588	c.448G>A	c.(448-450)Gat>Aat	p.D150N	NAA11_uc021xpl.1_Missense_Mutation_p.D150N	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	150	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.R149W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TGCGAGAGATCCCGCTTCATA	0.522000														44			10		0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48823245	48823245	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:48823245G>A	uc004dlx.1	-	2	2864	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	KCND1_uc004dlw.1_Missense_Mutation_p.R54C	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	431						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CTTGCCAAGCGCACCTTCTGC	0.572000														16			8		0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24302258	24302258	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:24302258G>A	uc003ndx.3	-	2	665	c.363C>T	c.(361-363)atC>atT	p.I121I	DCDC2_uc003ndy.3_Silent_p.I121I	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	121					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TCCTGCTATGGATTACTGGTT	0.358000														54			13		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359391	128359391	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:128359391C>T	uc003kuy.3	+	6	1639	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	SLC27A6_uc003kuz.3_Missense_Mutation_p.H415Y	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	415					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)		TTGGTGTATTCATGTGAAAAA	0.368000														40			5		0	0	1	0	0
DOHH	83475	broad.mit.edu	37	19	3496711	3496711	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3496711G>A	uc002lxs.3	-	1	265	c.102C>T	c.(100-102)ctC>ctT	p.L34L	DOHH_uc010xhl.2_Silent_p.L34L	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	Homo sapiens deoxyhypusine hydroxylase/monooxygenase (DOHH), transcript variant 2, mRNA.	34					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGCCGCCGAGCCCACGCA	0.677000														35			6		0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427866	134427866	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:134427866G>A	uc022ceq.1	-	1	591	c.201C>T	c.(199-201)atC>atT	p.I67I	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Silent_p.I67I	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAAGTTGGCTGATAGTCTCAA	0.478000														48			14		0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82353490	82353490	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:82353490C>T	uc003hmi.1	-	12	1504	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	RASGEF1B_uc003hmj.1_Missense_Mutation_p.E453K|RASGEF1B_uc010ijq.1_Missense_Mutation_p.E412K	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	454					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ATATGATTTTCAGGTCCTTCA	0.383000														27			8		0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20964372	20964372	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:20964372C>T	uc001bdm.3	+	1	519	c.425C>T	c.(424-426)cCg>cTg	p.P142L		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	142					cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGCCTGACCCGTTGGACACG	0.547000														81			11		0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32421568	32421568	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:32421568C>T	uc001mtn.2	-	5	1214	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	WT1_uc001mtl.2_Missense_Mutation_p.D130N|WT1_uc001mtm.2_Missense_Mutation_p.D113N|WT1_uc001mto.2_Missense_Mutation_p.D342N|WT1_uc001mtq.2_Missense_Mutation_p.D325N|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	274			M -> R (in DDS).		RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q341*(2)|p.M342fs*11(1)|p.Q341fs*13(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGTGGTTATCGCTCTCGTAC	0.542000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					19			4		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25262521	25262521	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:25262521C>T	uc010aaa.3	+	3	626	c.293C>T	c.(292-294)cCc>cTc	p.P98L	ATP12A_uc001upp.3_Missense_Mutation_p.P98L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	98					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTCACCCCTCCCAAGCAGACG	0.587000														265			31		0	0	1	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428773	142428773	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142428773G>A	uc011ksk.1	+	1	150	c.133G>A	c.(133-135)Gat>Aat	p.D45N	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_5'UTR					SubName: Full=V_segment translation product; Flags: Fragment;																		ATGTGTCCAGGATATGGACCA	0.428000														33			9		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317782	30317782	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:30317782C>T	uc009xle.2	-	2	1432	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	KIAA1462_uc001iux.3_Missense_Mutation_p.R432Q|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.R294Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	432										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTAAAATGTCGTAACCGTGG	0.522000														107			22		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302035	128302035	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:128302035C>T	uc003kuy.3	+	1	601	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC27A6_uc003kuz.3_Missense_Mutation_p.R69W	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	69					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)		AAGACAACCTCGGAAACCTTT	0.458000														75			8		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421075	105421075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:105421075G>A	uc003dwc.3	-	11	2144	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CBLB_uc011bhi.2_Nonsense_Mutation_p.R630*|CBLB_uc003dwd.2_Nonsense_Mutation_p.R608*|CBLB_uc003dwe.2_Nonsense_Mutation_p.R608*	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	608	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCTAGGAGTCGACATCCCACA	0.537000			Mis S		AML									99			8		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104149475	104149475	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:104149475C>T	uc001tjw.3	+	62	7152	c.6966C>T	c.(6964-6966)ccC>ccT	p.P2322P	STAB2_uc009zug.3_Intron	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2322	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCCTTCCCCTCACTCACAA	0.557000														93			5		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023827	25023827	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:25023827C>T	uc003aan.1	+	12	1704	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	GGT1_uc003aas.1_Missense_Mutation_p.S406F|GGT1_uc003aat.1_Missense_Mutation_p.S406F|GGT1_uc003aau.2_Missense_Mutation_p.S406F|GGT1_uc003aav.2_Missense_Mutation_p.S406F|GGT1_uc003aaw.2_Missense_Mutation_p.S406F|GGT1_uc003aax.2_Missense_Mutation_p.S406F|GGT1_uc003aay.1_Missense_Mutation_p.S62F	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	406					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGCTTTGGCTCCAAGGTCCGC	0.592000														59			5		0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91947859	91947859	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:91947859G>A	uc004aqj.1	+	5	918	c.838G>A	c.(838-840)Gta>Ata	p.V280I	SECISBP2_uc010mqn.1_Missense_Mutation_p.V280I|SECISBP2_uc004aqi.1_Missense_Mutation_p.V207I|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc004aqk.1_Missense_Mutation_p.V207I|SECISBP2_uc011ltk.1_Missense_Mutation_p.V279I|SECISBP2_uc011ltl.1_Missense_Mutation_p.V212I	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	280					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AAATGAATCTGTAACTGCTAA	0.318000														27			6		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232951	1232951	+	Silent	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:1232951C>A	uc003jby.2	+	2	510	c.387C>A	c.(385-387)tcC>tcA	p.S129S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	129					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCTCAACTCCTTCCAGCACC	0.647000														78			5		8.12818e-05	8.18048e-05	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152841599	152841599	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152841599T>A	uc021zhb.1	-	3	527	c.304A>T	c.(304-306)Aga>Tga	p.R102*	SYNE1_uc003qot.4_Nonsense_Mutation_p.R102*|SYNE1_uc003qou.4_Nonsense_Mutation_p.R102*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.R102*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.R102*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	102	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			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)		CTTACCTTTCTTCCTTCGAGG	0.443000										HNSCC(10;0.0054)				113			12		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163369185	163369185	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:163369185C>T	uc002uch.2	-	5	1122	c.893_splice	c.e5-1	p.D298_splice	KCNH7_uc002uci.3_Intron	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	298					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CGACCATTGTCTGTTTTGAGC	0.333000														59			5		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433933	37433933	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:37433933C>T	uc021ppc.1	+	7	1335	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	ANKRD30A_uc001iza.1_Silent_p.F412F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	468						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCAGAGGTTCCCATCAGAAT	0.254000														70			31		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700836	136700836	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:136700836C>T	uc003vtf.1	+	3	1847	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	CHRM2_uc003vtg.1_Silent_p.L408L|CHRM2_uc003vti.1_Silent_p.L408L|CHRM2_uc003vtm.1_Silent_p.L408L|CHRM2_uc003vtj.1_Silent_p.L408L|CHRM2_uc003vtk.1_Silent_p.L408L|CHRM2_uc003vtl.1_Silent_p.L408L|CHRM2_uc003vtn.1_Silent_p.L408L|CHRM2_uc003vto.1_Silent_p.L408L|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.L408L	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	408					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCATGGTGCTCATTAACACCT	0.478000														146			11		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43905598	43905598	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:43905598G>A	uc001cjk.2	+	49	7002	c.4392G>A	c.(4390-4392)ggG>ggA	p.G1464G		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2363						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGAAAAGGGGAACATTAGTA	0.567000														82			13		0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128114581	128114581	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:128114581G>A	uc010qum.2	-	8	2361	c.2331C>T	c.(2329-2331)ctC>ctT	p.L777L	C10orf90_uc001ljp.3_Silent_p.L536L|C10orf90_uc001ljq.3_Silent_p.L680L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	680										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTCGGCACGGAGTCTGTTAC	0.413000														72			16		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123540270	123540270	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:123540270G>T	uc010nqy.3	-	25	5116	c.5052C>A	c.(5050-5052)gaC>gaA	p.D1684E	ODZ1_uc011muj.2_Missense_Mutation_p.D1683E|ODZ1_uc004euj.3_Missense_Mutation_p.D1677E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1677					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						GCTTCTCCAGGTCACTGTGGA	0.468000														76			34		1.08052e-11	1.09286e-11	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803561	185803561	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:185803561C>T	uc002uph.3	+	3	4032	c.3438C>T	c.(3436-3438)ctC>ctT	p.L1146L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1146						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						TACCTCAGCTCTCAGTAGGAC	0.517000														101			15		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872633	51872633	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51872633C>T	uc002xwo.3	+	1	3523	c.2636C>T	c.(2635-2637)cCa>cTa	p.P879L	TSHZ2_uc021wex.1_Missense_Mutation_p.P876L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	879					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GATCTGGGCCCACAAGAGCGT	0.512000														84			8		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39734772	39734772	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:39734772T>C	uc001rly.3	-	14	2466	c.2046A>G	c.(2044-2046)ctA>ctG	p.L682L	KIF21A_uc001rlw.3_5'UTR|KIF21A_uc001rlx.3_Silent_p.L669L|KIF21A_uc001rlz.3_Silent_p.L669L|KIF21A_uc010skl.2_Silent_p.L669L	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	682					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCAGCATCATTAGCTTCTCTT	0.348000														23			9		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995324	36995324	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36995324C>T	uc010jwp.1	+	14	1896	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	FGD2_uc003ong.2_Silent_p.L297L|FGD2_uc011dtv.1_Silent_p.L203L|FGD2_uc003onj.1_Silent_p.L152L	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	575	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATGACCCCCTCGTGCTCTATG	0.667000														89			15		0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191366	11191366	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:11191366G>A	uc003mzv.2	-	4	903	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	NEDD9_uc010joz.2_Missense_Mutation_p.P246S|NEDD9_uc003mzw.3_Missense_Mutation_p.P100S	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	246					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTCTCATGGGAGGGGGGAAG	0.527000														50			11		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70416268	70416268	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:70416268C>T	uc002lkw.3	-	9	1881	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	NETO1_uc002lky.2_Missense_Mutation_p.V533I	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	533					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTTCTAGACCCTAGTTGTG	0.378000														55			10		0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044135	163044135	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:163044135G>A	uc001gcl.4	+	5	1023	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	RGS4_uc009wuy.3_Missense_Mutation_p.E135K|RGS4_uc009wuz.3_Missense_Mutation_p.G79E|RGS4_uc009wva.3_Missense_Mutation_p.E117K	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	135					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity	p.E135K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGCACCAGGGAAGAGACAAG	0.493000														188			33		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39880041	39880041	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39880041G>A	uc003opb.3	-	6	1086	c.948C>T	c.(946-948)aaC>aaT	p.N316N	MOCS1_uc003opa.3_Silent_p.N316N|MOCS1_uc003opd.3_Silent_p.N316N|MOCS1_uc003ope.3_Silent_p.N229N	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	316	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCGCAGGCGGTTGCAGGTCC	0.572000														146			11		0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49354562	49354562	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:49354562C>T	uc002xvo.3	+	1	478	c.235C>T	c.(235-237)Cac>Tac	p.H79Y		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	79	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGATAATTATCACAAAGCTGT	0.338000														43			8		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116068249	116068249	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:116068249C>T	uc001lbn.3	-	8	1211	c.910G>A	c.(910-912)Gct>Act	p.A304T	AFAP1L2_uc001lbo.3_Missense_Mutation_p.A304T|AFAP1L2_uc010qse.2_Missense_Mutation_p.A357T|AFAP1L2_uc001lbp.3_Missense_Mutation_p.A332T|AFAP1L2_uc001lbr.1_Missense_Mutation_p.A304T	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	304					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)		TACTCTGAAGCCGACAGGTAC	0.527000														45			6		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775309	52775309	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:52775309C>T	uc001sah.1	-	5	961	c.913_splice	c.e5-1	p.E305_splice		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	305	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACTGGATTTCCTGTGTTGGA	0.542000														97			6		0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64744106	64744106	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:64744106G>A	uc004dwa.2	-	9	1221	c.1130C>T	c.(1129-1131)cCg>cTg	p.P377L	LAS1L_uc004dwc.2_Missense_Mutation_p.P360L|LAS1L_uc004dwd.2_Missense_Mutation_p.P318L	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	377						MLL1 complex|nucleolus	protein binding	p.P377L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTGAGAGAACGGCTTTGGCAC	0.572000														12			3		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100568928	100568928	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:100568928C>T	uc003dun.3	-	14	1421	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	ABI3BP_uc003duo.2_Missense_Mutation_p.E488K	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	446	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTAAAGATTTCCAGTTTTTGA	0.378000														14			3		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10419994	10419994	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:10419994C>T	uc003bvt.3	-	9	1582	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	ATP2B2_uc003bvv.3_Silent_p.K336K|ATP2B2_uc003bvw.3_Silent_p.K336K|ATP2B2_uc010hdo.3_Silent_p.K86K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	381					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						CGGACTTCTCCTTCTTGTGCA	0.647000														67			7		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227471	38227471	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:38227471G>A	uc009vvi.3	-	2	542	c.456C>T	c.(454-456)atC>atT	p.I152I	EPHA10_uc001cbw.4_Silent_p.I152I	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	152						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGATCGTGTCGATTTTGCGGG	0.662000														53			15		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101714379	101714379	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:101714379C>T	uc001vox.1	-	40	4885	c.4696G>A	c.(4696-4698)Gag>Aag	p.E1566K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1566						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGGCCACCTCCTCCTCTATG	0.602000														62			7		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259197	89259197	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:89259197G>A	uc003dqy.3	+	2	566	c.341G>A	c.(340-342)gGa>gAa	p.G114E	EPHA3_uc003dqx.1_Missense_Mutation_p.G114E|EPHA3_uc021xbf.1_Missense_Mutation_p.G114E	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	114						extracellular region|integral to plasma membrane	ATP binding	p.G114E(2)		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)		TTGGTTTTAGGAACTTGCAAG	0.438000										TSP Lung(6;0.00050)				100			9		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108070694	108070694	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108070694A>C	uc003dwz.3	+	2	448	c.34A>C	c.(34-36)Att>Ctt	p.I12L	HHLA2_uc011bhl.2_Missense_Mutation_p.H35P|HHLA2_uc010hpu.3_Missense_Mutation_p.I12L|HHLA2_uc003dwy.4_Missense_Mutation_p.I12L	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	12						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTTCTTCCTCATTCTCATAAC	0.358000														20			4		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834966	61834966	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61834966C>T	uc002yeh.3	-	3	620	c.326G>A	c.(325-327)gGg>gAg	p.G109E	YTHDF1_uc011aaq.2_Missense_Mutation_p.G59E	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	109										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCCCAGGCCCCCAGGCTGCCC	0.532000														79			15		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225615	61225615	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61225615G>A	uc010xeo.2	+	1	199	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	SERPINB12_uc010xen.2_Missense_Mutation_p.E67K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	67					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTCCCAGAATGAAAGCAAAGA	0.438000														81			20		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354506	42354506	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42354506G>A	uc010xwe.2	+	6	965	c.882G>A	c.(880-882)agG>agA	p.R294R	DMRTC2_uc002orr.1_Silent_p.R171R|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						GAAAAAGCAGGAAACTGAAGG	0.597000														102			7		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35088238	35088238	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35088238G>A	uc003okd.2	-	6	1121	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	TCP11_uc003ojz.1_Missense_Mutation_p.L239F|TCP11_uc003oka.2_Missense_Mutation_p.L239F|TCP11_uc003okb.2_Missense_Mutation_p.L238F|TCP11_uc011dsu.1_Missense_Mutation_p.L296F|TCP11_uc003okc.2_Missense_Mutation_p.L238F|TCP11_uc011dsv.1_Missense_Mutation_p.L263F|TCP11_uc011dsw.1_Missense_Mutation_p.L268F	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	301					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGGTCCCAGAGAAGGAGGTTC	0.572000														154			26		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30926546	30926546	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:30926546G>A	uc009yjk.1	-	18	2683	c.2614C>T	c.(2614-2616)Cgt>Tgt	p.R872C	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.R531C|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	503					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TTCCCATTACGATACCCATCC	0.458000														66			5		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912754	150912754	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150912754G>A	uc004fey.1	+	6	2003	c.1779G>A	c.(1777-1779)atG>atA	p.M593I		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	593					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)					CAACCAGCATGGAGGTCGACG	0.577000														94			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745253	140745253	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140745253C>T	uc003lju.2	+	0	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	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_Silent_p.F452F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	454	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)			CACCCAATTTCCCTCAAGCCT	0.522000														130			13		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74884979	74884979	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74884979G>A	uc002sna.1	+	4	469	c.358_splice	c.e4-1	p.D120_splice	SEMA4F_uc010ysb.1_Intron|SEMA4F_uc021vjn.1_Splice_Site_p.D120_splice|SEMA4F_uc010ffq.1_Intron|SEMA4F_uc010ffr.1_Splice_Site|SEMA4F_uc002snb.1_Intron|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	120	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTGACCCCCAGGACGAATGTC	0.498000														98			8		0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76685	76685	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:76685G>A	uc002wcw.3	+	1	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	33					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			AATAATGTAGGACATTGCAGA	0.328000														77			15		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112785	59112785	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:59112785T>G	uc001xdw.3	+	3	1608	c.1444T>G	c.(1444-1446)Tca>Gca	p.S482A	DACT1_uc010trv.2_Missense_Mutation_p.S201A|DACT1_uc001xdx.3_Missense_Mutation_p.S445A|DACT1_uc010trw.2_Missense_Mutation_p.S201A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	482					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGCTCAGCTCTCAGGGGCCTC	0.567000														91			25		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7972128	7972128	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7972128C>T	uc010sgh.2	-	7	1156	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R	SLC2A14_uc001qtk.3_Missense_Mutation_p.G364R|SLC2A14_uc001qtl.3_Missense_Mutation_p.G341R|SLC2A14_uc001qtm.3_Missense_Mutation_p.G341R|SLC2A14_uc010sgg.2_Missense_Mutation_p.G255R|SLC2A14_uc001qtn.3_Missense_Mutation_p.G364R|SLC2A14_uc001qto.3_5'UTR	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	364					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCATCCCTCCAAGGCCTATC	0.418000														52			5		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72205040	72205040	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:72205040A>G	uc001xms.3	+	20	5630	c.5269A>G	c.(5269-5271)Aag>Gag	p.K1757E	SIPA1L1_uc001xmt.3_Missense_Mutation_p.K1736E|SIPA1L1_uc001xmu.3_Missense_Mutation_p.K1735E|SIPA1L1_uc001xmv.3_Missense_Mutation_p.K1756E|SIPA1L1_uc010ttm.2_Missense_Mutation_p.K1210E|DKFZp686G1344_uc021rvu.1_5'Flank	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1757					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)		AGATTTGAAGAAGGTAAACAT	0.433000														43			3		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25433255	25433255	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:25433255C>T	uc001upr.3	+	25	3768	c.3727C>T	c.(3727-3729)Ctg>Ttg	p.L1243L	RNF17_uc010tdd.1_Silent_p.L1102L|RNF17_uc010tde.2_Silent_p.L1239L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.L1182L|RNF17_uc010aac.3_Silent_p.L441L|RNF17_uc010aad.3_Silent_p.L295L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1243	Tudor 3.				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)		ATCCGATACTCTGTGGTATCG	0.388000														28			4		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924522	105924522	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:105924522G>A	uc001pja.3	-	3	1534	c.894C>T	c.(892-894)ttC>ttT	p.F298F	KBTBD3_uc001pjb.3_Silent_p.F298F|KBTBD3_uc009yxm.3_Silent_p.F219F	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	294										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTTGTGAATGAATATGTATT	0.363000														49			7		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566373	41566373	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:41566373G>A	uc003xok.3	-	16	2005	c.1921C>T	c.(1921-1923)Ctg>Ttg	p.L641L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Silent_p.L641L|ANK1_uc003xoj.3_Silent_p.L641L|ANK1_uc003xol.3_Silent_p.L641L|ANK1_uc003xom.3_Silent_p.L674L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	641	89 kDa domain.				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)			TGGGCGGCCAGGTGAAGGGGC	0.617000														92			18		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	907761	907761	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:907761G>A	uc001ace.3	+	8	1150	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	PLEKHN1_uc001acd.3_Missense_Mutation_p.G320E|PLEKHN1_uc001acf.3_Missense_Mutation_p.G332E	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	372										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CACAGGGAGGGGGCCCCGCCG	0.672000														14			4		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171154963	171154963	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:171154963T>C	uc001ghk.1	+	1	228	c.111T>C	c.(109-111)atT>atC	p.I37I	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	37					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGAAGATATTGGAGGAGTGT	0.453000														144			24		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58253007	58253007	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:58253007G>A	uc002aex.3	-	11	1718	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	ALDH1A2_uc010ugv.2_Missense_Mutation_p.P461L|ALDH1A2_uc002aey.3_Missense_Mutation_p.P444L|ALDH1A2_uc010ugw.2_Missense_Mutation_p.P453L|ALDH1A2_uc002aew.3_Missense_Mutation_p.P386L	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	482					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCCCCCAAAGGGGCTCTGGGC	0.428000														58			9		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220472776	220472776	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220472776C>T	uc002vml.3	+	13	1303	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	STK11IP_uc010zll.2_Silent_p.F377F|STK11IP_uc002vmm.1_Silent_p.F409F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	420					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGATGGTTCGTGCAGCAGC	0.627000														34			4		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121304943	121304943	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121304943C>T	uc003eef.3	+	4	539	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GAAACCAGATCCTTCCATCCA	0.502000														88			16		0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031971	26031971	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:26031971C>T	uc003nfs.1	-	0	318	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	106					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.F105L(1)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GGTTTGTGTCCTCAAAGAGCC	0.532000														69			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237229	140237229	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140237229C>T	uc003lhx.2	+	0	1596	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.F532F|PCDHAC2_uc011dad.2_Silent_p.F532F	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	547	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)			TGCTACAGTTCCAGGTGAGCG	0.682000														63			13		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814458	123814458	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123814458C>T	uc010sab.2	-	0	88	c.88G>A	c.(88-90)Ggg>Agg	p.G30R		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L29L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACCATTAACCCCAGGAACACC	0.483000														99			19		0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62518864	62518864	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:62518864G>A	uc002jem.3	+	7	818	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Missense_Mutation_p.G90R	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.	254						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TAGGAAGCTAGGGGAGCCTAT	0.443000														57			13		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724999	32724999	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:32724999G>A	uc010ezu.3	+	45	8988	c.8854G>A	c.(8854-8856)Gat>Aat	p.D2952N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2952					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAATACAACAGATAGTGTTTC	0.408000														87			9		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436605	10436605	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10436605C>T	uc010coi.3	-	20	2566	c.2438G>A	c.(2437-2439)aGa>aAa	p.R813K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R813K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	813	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTATACCTTCTCTCCACCAT	0.433000														65			10		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643171	111643171	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:111643171G>A	uc003kpv.1	-	1	390	c.116C>T	c.(115-117)tCc>tTc	p.S39F	EPB41L4A_uc003kpw.1_Missense_Mutation_p.S39F	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	39	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AAGGACAACGGAACCTTTCGT	0.388000														33			5		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58587679	58587679	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:58587679C>T	uc002ybe.3	+	17	2704	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_Missense_Mutation_p.S131F|CDH26_uc002ybi.3_Missense_Mutation_p.S90F	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	257					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCCCTCAGCTCTCTGGCCAGC	0.532000														83			28		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077663	19077663	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:19077663G>A	uc001mph.3	-	1	375	c.287C>T	c.(286-288)tCc>tTc	p.S96F	MRGPRX2_uc021qer.1_Missense_Mutation_p.S96F	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	96					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GATGGAGATGGAACAGAAGAA	0.547000														79			12		0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217323	98217323	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:98217323G>A	uc011bgx.2	+	0	799	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E267Q(2)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTGCTTGAAGAAGGAGGTAA	0.328000														32			7		0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43204144	43204144	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:43204144G>A	uc001cht.1	-	1	527	c.336C>T	c.(334-336)ccC>ccT	p.P112P	CLDN19_uc001chu.2_Silent_p.P112P|CLDN19_uc010ojv.1_Silent_p.P112P	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	112					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTGGCAATGGGGTTGCTGT	0.652000														55			7		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635664	39635664	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39635664C>T	uc002hws.3	-	2	689	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	216	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCCTCCAGGTCAGACTTGCAC	0.602000														71			13		0	0	1	0	0
CNPY1	285888	broad.mit.edu	37	7	155301590	155301590	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:155301590G>A	uc003wmc.1	-	2	289	c.144_splice	c.e2+1	p.A48_splice		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	Homo sapiens canopy 1 homolog (zebrafish) (CNPY1), mRNA.	48										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGAGCTTACCGCAAATTTCAA	0.343000														40			3		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927091	31927091	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31927091C>T	uc003nyn.1	+	1	429	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_5'UTR	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	14						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCCTCCAGATCCCCTGGACCT	0.592000														343			92		0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	112021360	112021360	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:112021360G>A	uc003pvj.3	-	7	1149	c.809C>T	c.(808-810)tCc>tTc	p.S270F	FYN_uc003pvi.3_Intron|FYN_uc003pvk.3_Missense_Mutation_p.S270F|FYN_uc003pvh.3_Intron|FYN_uc010kdy.1_Intron	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	270					T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CAACTGCAGGGATTCTCGAGG	0.493000														100			11		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20698181	20698181	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:20698181A>C	uc010kuh.3	+	13	1826	c.1589A>C	c.(1588-1590)aAa>aCa	p.K530T	ABCB5_uc003suw.4_Missense_Mutation_p.K85T|ABCB5_uc003suv.4_Missense_Mutation_p.K85T|ABCB5_uc011jyi.1_Missense_Mutation_p.K85T	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	85	ABC transmembrane type-1.				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						GGAGGGCAGAAACAGAGGATC	0.433000														50			4		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298729	125298729	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:125298729G>A	uc004euk.2	-	0	1352	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	393										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						GCCCCGGCATGGAGTCCAGGC	0.607000														117			12		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108723687	108723687	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108723687C>T	uc003dxl.3	-	19	2149	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	MORC1_uc011bhn.2_Missense_Mutation_p.E667K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	688					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.T687T(1)		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						AGGCACCCTTCAGTTGGTTGA	0.353000														253			46		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257841	18257841	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:18257841C>T	uc022asl.1	+	0	328	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	NAT2_uc003wyw.1_Silent_p.L110L	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	110					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TCACCTTCTCCTGCAGGTGAC	0.483000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					89			10		0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417318	54417318	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:54417318G>A	uc001xal.4	-	2	846	c.659C>T	c.(658-660)gCg>gTg	p.A220V	BMP4_uc010aoh.3_Missense_Mutation_p.A220V|BMP4_uc001xao.4_Missense_Mutation_p.A220V|BMP4_uc001xan.4_Missense_Mutation_p.A220V	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	220					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GCGAAGGACCGCAGGGCTCAC	0.587000														81			17		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9265989	9265989	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:9265989C>T	uc001qvk.1	-	1	350	c.237G>A	c.(235-237)gcG>gcA	p.A79A	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	79					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			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)	CGTCATTCTCCGCCTCCAGGT	0.493000														67			9		0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95838133	95838133	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:95838133C>T	uc004atb.3	+	1	192	c.156C>T	c.(154-156)tcC>tcT	p.S52S	SUSD3_uc004atc.3_Silent_p.S39S	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	52	Sushi.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						ATGGTGCTTCCGTGGGGACCG	0.637000														56			11		0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131515099	131515099	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:131515099G>A	uc004bwa.1	-	4	1209	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	259					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GTAGTAGCTGGAGAGGCGGTC	0.577000														52			10		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130287386	130287386	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:130287386G>A	uc004brh.3	-	3	574	c.372C>T	c.(370-372)atC>atT	p.I124I	FAM129B_uc004bri.3_Silent_p.I111I|FAM129B_uc004brj.4_Silent_p.I124I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	124	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGGACGTGAGGATTTTGTAGC	0.592000														56			13		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137674548	137674548	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:137674548G>A	uc004cfe.3	+	28	2848	c.2466G>A	c.(2464-2466)atG>atA	p.M822I		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	822	Triple-helical 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)		AAGGAGACATGGGCATCAAGG	0.597000														139			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21247841	21247841	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21247841C>T	uc002red.3	-	15	2528	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	800				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).	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)	GGGCACCCATCAGAAGCAGCT	0.582000														73			5		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607406	84607406	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:84607406C>T	uc004amn.3	+	3	2068	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	674						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TCCATCATTCCTGGAGATTTT	0.498000														101			7		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539735	62539735	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:62539735C>T	uc002ajj.1	-	2	243	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	FLJ38723_uc002ain.1_Intron|DQ590682_uc002ajw.3_Non-coding_Transcript|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank|DQ586930_uc021soh.1_5'Flank|DQ592483_uc021soi.1_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		AGGTGTGCTTCCAGCTGTGCC	0.552000														24			5		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033271	117033271	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117033271G>A	uc011mtp.2	-	7	1710	c.1577C>T	c.(1576-1578)aCt>aTt	p.T526I	KLHL13_uc004eqk.3_Missense_Mutation_p.T472I|KLHL13_uc004eql.3_Missense_Mutation_p.T523I|KLHL13_uc011mtn.2_Missense_Mutation_p.T363I|KLHL13_uc011mto.2_Missense_Mutation_p.T517I|KLHL13_uc011mtq.2_Missense_Mutation_p.T507I|KLHL13_uc004eqm.3_Missense_Mutation_p.T481I|KLHL13_uc022cde.1_Missense_Mutation_p.T507I	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	523					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						ACCTCTGACAGTGGTCATTGG	0.438000														173			57		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705399	189705399	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189705399C>T	uc011bsk.2	-	4	1403	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	LEPREL1_uc003fsg.3_Missense_Mutation_p.D158N	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	339					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACATCCTCATCATCTGGATGG	0.473000														90			5		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860193	113860193	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:113860193G>A	uc010rxb.2	+	7	1492	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E	HTR3A_uc010rxa.2_Missense_Mutation_p.G388E|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.G367E	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	382	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCAGCCATGGGAAACCACTGC	0.587000														77			18		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51828912	51828912	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51828912G>A	uc010ufy.2	-	11	1990	c.1765C>T	c.(1765-1767)Cct>Tct	p.P589S	DMXL2_uc002abf.3_Missense_Mutation_p.P589S|DMXL2_uc010bfa.3_Missense_Mutation_p.P589S	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	589						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)		GATCCGTGAGGACTGCCTACA	0.418000														69			11		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131471824	131471824	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:131471824C>T	uc010tbm.2	+	6	1330	c.771C>T	c.(769-771)ttC>ttT	p.F257F	GPR133_uc001uit.4_Silent_p.F225F	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	225					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)		ACGGTGCTTTCGATGAGTTCA	0.537000														86			5		0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262659	159262659	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:159262659G>A	uc003qrw.3	-	2		c.685C>T								Homo sapiens oligosaccharyltransferase complex subunit pseudogene 1 (OSTCP1), non-coding RNA.																		GGATTGGACAGCCTTTAAACT	0.403000														50			4		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869605	151869605	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151869605C>T	uc022chf.1	+	0	295	c.295C>T	c.(295-297)Cct>Tct	p.P99S	MAGEA6_uc004ffq.1_Missense_Mutation_p.P99S|MAGEA6_uc004ffr.1_Missense_Mutation_p.P99S	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	99							protein binding	p.P99S(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCACCTTCCCTGACCTGGA	0.557000														59			20		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593517	11593518	+	Missense_Mutation	DNP	CC	TT	TT	rs138872750		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11593517_11593518CC>TT	uc002gne.3	+	19	4446_4447	c.4378_4379CC>TT	c.(4378-4380)ccc>TTc	p.P1460F	DNAH9_uc010coo.3_Missense_Mutation_p.P754F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1460	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GACCAATGTCCCCCTCCTGTGC	0.495000														50			7		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474693	108474693	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108474693C>T	uc003dxh.2	-	2	366	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	90					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CAGGTGGTTTCCAGCTGAACA	0.572000														76			11		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156907966	156907966	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156907966C>T	uc003lwz.3	-	22	2827	c.2748G>A	c.(2746-2748)tcG>tcA	p.S916S	ADAM19_uc003lww.2_Intron|ADAM19_uc003lwy.3_Intron|ADAM19_uc021ygq.1_5'Flank	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	0					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTAGATTTTCGAGCTAATCA	0.517000														39			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048113	9048113	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9048113G>A	uc002mkp.3	-	4	33722	c.33518C>T	c.(33517-33519)tCt>tTt	p.S11173F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11175	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						TTCATCAGAAGAAATAGTCAG	0.453000														42			7		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236706463	236706463	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:236706463C>T	uc002vvs.3	+	6	1332	c.734C>T	c.(733-735)tCg>tTg	p.S245L	AGAP1_uc002vvt.3_Missense_Mutation_p.S245L|AGAP1_uc021vyp.1_Missense_Mutation_p.S245L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	245	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCCTGCAAGTCGCTACCTAAT	0.507000														142			31		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548734	158548734	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158548734C>T	uc010pin.2	-	0	956	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AACTGTGTTTCCCATCATTCT	0.428000														129			13		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720117	28720117	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:28720117C>T	uc002kwn.3	-	9	1670	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	DSC1_uc002kwm.3_Missense_Mutation_p.E470K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	470	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGGTGGCATTCAGGGCCCTCA	0.473000														84			9		0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92143197	92143197	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92143197G>A	uc003uly.3	-	5	1420	c.1324C>T	c.(1324-1326)Cca>Tca	p.P442S	PEX1_uc011khr.2_Missense_Mutation_p.P234S|PEX1_uc010ley.3_Missense_Mutation_p.P442S|PEX1_uc011khs.2_Missense_Mutation_p.P120S|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	442					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGAGATCTTGGAATTTTAGGG	0.323000														96			8		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810973	123810973	+	Missense_Mutation	SNP	C	T	T	rs138187932		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123810973C>T	uc001pzk.1	+	0	650	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		CTTCTGGGATCGTACACAGCA	0.517000														158			10		0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681073	19681073	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19681073G>A	uc002nmy.3	-	3	764	c.477C>T	c.(475-477)ctC>ctT	p.L159L	PBX4_uc010xra.2_5'UTR|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	159							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GCTCCTGGAGGAGGTTGGTGA	0.622000														20			3		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83356281	83356281	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:83356281C>T	uc003kio.1	-	8	1394	c.975G>A	c.(973-975)atG>atA	p.M325I	EDIL3_uc003kip.1_Missense_Mutation_p.M315I|EDIL3_uc011ctt.1_Missense_Mutation_p.M102I	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	325	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTCCTGATTTCATACCCAGAG	0.438000														43			4		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:78010772C>T	uc022bzj.1	+	0	406	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_uc010nme.3_Missense_Mutation_p.R136C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000														76			24		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341976	121341976	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121341976G>A	uc003eeg.2	+	2	1910	c.1700G>A	c.(1699-1701)gGa>gAa	p.G567E		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	567					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)		GGTCATGGAGGAAAAAGCCAG	0.517000														96			36		0	0	1	0	0
C20orf27	54976	broad.mit.edu	37	20	3736162	3736162	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:3736162G>A	uc002wjh.1	-	3	559	c.330C>T	c.(328-330)gtC>gtT	p.V110V	C20orf27_uc002wjf.1_Silent_p.V110V|C20orf27_uc002wji.1_Silent_p.V85V	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.	85										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GCAGGCTGGGGACAGGTGCCT	0.617000														40			8		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36080267	36080267	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:36080267G>A	uc010gmt.1	+	3	1564	c.1564G>A	c.(1564-1566)Gct>Act	p.A522T	CLIC6_uc002yuf.1_Missense_Mutation_p.A504T	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	522						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCAGAACCTGGCTCCCGGAAC	0.522000														67			7		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2578381	2578381	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2578381G>A	uc003smi.3	-	13	2076	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L	BRAT1_uc003smh.4_Silent_p.L28L	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	596					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGATGTGCAGGAGCTCCAGGA	0.672000														45			7		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956606	93956606	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93956606C>T	uc003poe.3	-	14	2871	c.2630G>A	c.(2629-2631)cGt>cAt	p.R877H	EPHA7_uc003pof.3_Missense_Mutation_p.R872H|EPHA7_uc011eac.2_Missense_Mutation_p.R873H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	877	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R877L(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTTCAGCACGCTCCTTTTG	0.423000														54			7		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919180	142919180	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142919180G>A	uc011ksx.2	+	0	9	c.9G>A	c.(7-9)acG>acA	p.T3T		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	3					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GAATGGCAACGGTGAACACAG	0.468000														89			5		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4159774	4159774	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4159774G>A	uc002lzl.3	+	3	687	c.571G>A	c.(571-573)Gac>Aac	p.D191N	CREB3L3_uc002lzm.3_Missense_Mutation_p.D181N|CREB3L3_uc010xib.2_Missense_Mutation_p.D182N|CREB3L3_uc010xic.2_Missense_Mutation_p.D182N	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	191					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAGTGGGGACCTGGTGAG	0.607000														63			12		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503713	76503713	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:76503713C>T	uc010dhp.2	-	27	4536	c.4411G>A	c.(4411-4413)Gag>Aag	p.E1471K		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)			CTTGTCACCTCCTTCAGGAAG	0.582000														30			4		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:137872796G>A	uc002tva.1	+	3	1209	c.1209G>A	c.(1207-1209)ggG>ggA	p.G403G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G293G	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGCGGTGGGATCCAGACCC	0.602000														21			6		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722328	196722328	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196722328C>T	uc002utj.4	-	43	8288	c.8187G>A	c.(8185-8187)ggG>ggA	p.G2729G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2729	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAATTTTTTTCCCTGAACCTG	0.443000														50			4		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527047	132527047	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:132527047G>A	uc010sck.2	-	1	385	c.335C>T	c.(334-336)cCg>cTg	p.P112L	OPCML_uc001qgu.3_Missense_Mutation_p.P105L|OPCML_uc001qgs.3_Missense_Mutation_p.P112L|OPCML_uc001qgt.3_Missense_Mutation_p.P112L|OPCML_uc010scl.2_Missense_Mutation_p.P71L	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.P112L(2)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCAGGTGTACGGACCTTCGTC	0.502000														71			4		0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14840739	14840739	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:14840739C>T	uc001mln.3	+	6	2144	c.1791C>T	c.(1789-1791)tgC>tgT	p.C597C	PDE3B_uc010rcr.2_Silent_p.C546C	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	597					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTACAGATTGCTGCAGTGGAA	0.299000														46			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063570	9063570	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9063570C>T	uc002mkp.3	-	2	24080	c.23876G>A	c.(23875-23877)tGg>tAg	p.W7959*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7961	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						AGGGCTCATCCATGATACATC	0.458000														34			11		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475892	32475892	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:32475892G>A	uc002roi.3	-	3	1302	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	NLRC4_uc021vfq.1_Silent_p.I347I|NLRC4_uc002roj.2_Silent_p.I347I|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	347	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CACCCATCTGGATTGCACAAG	0.433000														26			4		0	0	1	0	0
CD3EAP	10849	broad.mit.edu	37	19	45912178	45912178	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:45912178C>T	uc002pbr.1	+	2	964	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Silent_p.L318L|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	318					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GGTGGAGCCACTGGAGGAAGC	0.572000														103			18		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87053293	87053293	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87053293C>T	uc003uiv.1	-	16	2216	c.2140G>A	c.(2140-2142)Gga>Aga	p.G714R	ABCB4_uc003uiw.1_Missense_Mutation_p.G714R|ABCB4_uc003uix.1_Missense_Mutation_p.G714R	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	714	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.G714R(2)|p.V713M(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CATACTGTTCCCACGACAAAG	0.453000														115			15		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753850	123753850	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123753850G>A	uc001pzi.3	-	3	881	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	225						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CCAAATCACAGAGCCCAGGTT	0.428000														75			11		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76715024	76715024	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76715024C>T	uc003pik.1	-	9	1245	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	372					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.V371V(1)		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)				CTGAATTGTCCCCACATCCAA	0.418000														73			9		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56081814	56081814	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56081814G>A	uc001shh.3	-	23	3356	c.3136C>T	c.(3136-3138)Ctc>Ttc	p.L1046F	ITGA7_uc001shg.3_Missense_Mutation_p.L1042F|ITGA7_uc010sps.2_Missense_Mutation_p.L949F|ITGA7_uc001shf.3_Missense_Mutation_p.L20F|ITGA7_uc009znw.3_Missense_Mutation_p.L289F|ITGA7_uc009znx.3_Missense_Mutation_p.L923F	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1086					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCCAGGAGGATGACCCAC	0.612000														119			14		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47317690	47317690	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:47317690G>A	uc003tnw.3	-	30	4680	c.4322C>T	c.(4321-4323)tCc>tTc	p.S1441F	TNS3_uc022acn.1_Intron|TNS3_uc022aco.1_5'Flank	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1441						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTCTTTGGGGAACCAATCAT	0.577000														33			8		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894384	151894384	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:151894384G>A	uc003qol.3	+	5	939	c.850G>A	c.(850-852)Ggc>Agc	p.G284S		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	284																	GCTGCTTGCTGGCCAGCAGGT	0.473000														37			15		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931460	62931460	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:62931460G>A	uc001nwr.1	-	8	1480	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	494					transmembrane transport	integral to membrane		p.R494Q(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GGCAGGGGTCGAGAATATATG	0.493000														146			10		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132939660	132939660	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:132939660G>A	uc003kyn.1	-	1	233	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	5						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCAAAAGCCTCCTGGTT	0.498000														41			6		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42441990	42441990	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42441990A>T	uc001zoz.3	-	10	1072	c.980T>A	c.(979-981)tTt>tAt	p.F327Y	PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Missense_Mutation_p.F78Y|PLA2G4F_uc010bcr.3_Missense_Mutation_p.F78Y|PLA2G4F_uc010bcs.3_Missense_Mutation_p.F114Y	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	327	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTGTCCAGAAACTCCTGCTC	0.617000														71			7		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70098769	70098769	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70098769C>T	uc010kak.3	+	30	4831	c.4555C>T	c.(4555-4557)Caa>Taa	p.Q1519*	BAI3_uc003pev.4_Nonsense_Mutation_p.Q1519*|BAI3_uc011dxx.2_Nonsense_Mutation_p.Q725*	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1519					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F1518F(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGTGACTTTCAAACAGAAGT	0.423000														34			6		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21437843	21437843	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:21437843G>A	uc002kuq.3	+	32	4258	c.4172G>A	c.(4171-4173)cGa>cAa	p.R1391Q	LAMA3_uc002kur.3_Missense_Mutation_p.R1391Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1391	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTGTGACCGATGTGCTTCC	0.498000														79			14		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114293187	114293187	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:114293187G>A	uc004bff.2	+	2	669	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ZNF483_uc011lwq.2_Missense_Mutation_p.E149K|ZNF483_uc004bfg.2_Missense_Mutation_p.E149K	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	149					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TGTTTCCCAAGAGGAGAACTC	0.368000														57			4		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221852	118221852	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:118221852G>A	uc004era.4	-	10	3341	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1114										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						CTGCTCCTTAGAAATGTCCTC	0.483000														124			33		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63257786	63257786	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63257786T>C	uc001nwy.2	-	1	372	c.198A>G	c.(196-198)gcA>gcG	p.A66A	HRASLS5_uc001nwz.2_Silent_p.A56A|HRASLS5_uc010rmq.1_Silent_p.A66A|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	66								p.A66T(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GGACCAACGCTGCGAATCCCA	0.537000														228			58		0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50822772	50822772	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:50822772C>T	uc001rwp.2	+	2	423	c.221C>T	c.(220-222)tCa>tTa	p.S74L	LARP4_uc001rwq.2_Missense_Mutation_p.S74L|LARP4_uc001rwt.2_Missense_Mutation_p.S74L|LARP4_uc001rws.2_Missense_Mutation_p.S73L|LARP4_uc001rwr.2_Missense_Mutation_p.S74L|LARP4_uc021qxv.1_Missense_Mutation_p.S4L|LARP4_uc001rwm.3_Missense_Mutation_p.S74L|LARP4_uc001rwn.3_Missense_Mutation_p.S4L	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	74							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATGTATTCTTCATCTTGTGAA	0.323000														44			14		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87726037	87726037	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:87726037C>T	uc003pli.3	+	1	1688	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	HTR1E_uc021zcg.1_Silent_p.L329L	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	329					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.L329L(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGCCGACTTTCTGACGTGGCT	0.443000														135			25		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023412	76023412	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76023412C>T	uc010kbe.3	-	5	2675	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	FILIP1_uc003phy.1_Silent_p.L712L|FILIP1_uc003phz.3_Silent_p.L613L|FILIP1_uc003pia.3_Silent_p.L712L|FILIP1_uc003pib.1_Silent_p.L464L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	712										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGCTTCTTCCAACCGAAATC	0.418000														145			22		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642411	19642411	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:19642411C>T	uc002ykw.3	-	24	2966	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	979	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.E979*(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTGTTGTTTTCTTGGCACATT	0.428000														106			8		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236733	42236733	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42236733G>A	uc003ose.2	-	4	1159	c.596C>T	c.(595-597)tCc>tTc	p.S199F	TRERF1_uc011duq.1_Missense_Mutation_p.S199F|TRERF1_uc003osb.2_Missense_Mutation_p.S38F|TRERF1_uc003osc.2_Missense_Mutation_p.S38F|TRERF1_uc003osd.2_Missense_Mutation_p.S199F	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	199					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGTAGCGGGAAGGGATAGC	0.637000														75			19		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71872432	71872432	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:71872432C>T	uc004eax.4	-	11	1508	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	PHKA1_uc004eay.4_Missense_Mutation_p.G403S|PHKA1_uc011mqi.2_Missense_Mutation_p.G403S	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	403					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGAGACTGACCCCACATGTGA	0.443000														12			11		0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4929269	4929269	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4929269C>T	uc002mbp.3	+	1	521	c.228C>T	c.(226-228)gtC>gtT	p.V76V	UHRF1_uc002mbo.3_Silent_p.V63V|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	63	Ubiquitin-like.				DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACTACGAGGTCCGCCTGAATG	0.632000														56			7		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117067420	117067420	+	Missense_Mutation	SNP	C	T	T	rs145791114		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117067420C>T	uc003vjb.2	-	0	158	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	ASZ1_uc011kno.1_Missense_Mutation_p.R32Q|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	32					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTGAGACGTCCGGTCGAGATA	0.657000														104			32		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116307445	116307445	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:116307445G>A	uc021pyx.1	-	4	863	c.764C>T	c.(763-765)tCc>tTc	p.S255F	ABLIM1_uc021pyw.1_Missense_Mutation_p.S255F|ABLIM1_uc021pyy.1_Missense_Mutation_p.S195F|ABLIM1_uc021pyz.1_Missense_Mutation_p.S189F|ABLIM1_uc021pza.1_Missense_Mutation_p.S195F|ABLIM1_uc021pze.1_Missense_Mutation_p.S179F|ABLIM1_uc021pzf.1_Missense_Mutation_p.S189F|ABLIM1_uc021pzd.1_Missense_Mutation_p.S103F	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	255	LIM zinc-binding 3.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCCCGCAGGACTTGCATTT	0.582000														32			6		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468343	35468343	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:35468343C>T	uc021wir.1	+	0	846	c.846C>T	c.(844-846)atC>atT	p.I282I	SLC5A3_uc002yto.3_Silent_p.I282I|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	282						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACCAAGTCATCGTGCAGAGGG	0.483000														75			15		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120382598	120382598	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:120382598C>T	uc003vjj.1	+	3	2374	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	470					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTTAGCAAATCCGGCTCCAGC	0.478000														151			16		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516851	157516851	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157516851C>T	uc009wsm.3	-	2	347	c.189G>A	c.(187-189)ggG>ggA	p.G63G	FCRL5_uc001fqu.3_Silent_p.G63G|FCRL5_uc010phv.1_Silent_p.G63G|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Silent_p.G63G|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	63	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTATTTCTTTCCCAAGGTACC	0.502000														75			8		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203356	155203356	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:155203356C>T	uc021xge.1	-	21	3064	c.2787G>A	c.(2785-2787)agG>agA	p.R929R	PLCH1_uc021xgd.1_Silent_p.R929R|PLCH1_uc021xgf.1_Silent_p.R891R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	929					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)			TGCTCTTTTTCCTGCCTTTGG	0.498000														69			19		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77918628	77918628	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:77918628G>A	uc002ffg.1	+	6	1103	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	336							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						GGGAGTGGTGGAAAAACTCAT	0.502000														13			3		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925585	53925585	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:53925585G>A	uc001cvq.1	+	0	514	c.459G>A	c.(457-459)gcG>gcA	p.A153A		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	153	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCGCCGTGGCGATGCCCAGCC	0.771000														10			3		0	0	1	0	0
CHMP1A	5119	broad.mit.edu	37	16	89715851	89715852	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89715851_89715852GG>AA	uc002fnu.3	-	3	292_293	c.159_160CC>TT	c.(157-162)atccgc>atTTgc	p.R54C	CHMP1A_uc002fnt.3_5'Flank|CHMP1A_uc002fnv.3_Missense_Mutation_p.P47L	NM_002768	NP_002759	Q9HD42	CHM1A_HUMAN	Homo sapiens charged multivesicular body protein 1A (CHMP1A), transcript variant 2, mRNA.	54					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		TTCTTCTTGCGGATGGCGTTCT	0.579000														62			8		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916712	150916712	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:150916712G>A	uc003eyq.4	-	2	702	c.462C>T	c.(460-462)atC>atT	p.I154I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Silent_p.I154I	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	154						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATGTCTTTGATGGGAATCA	0.363000														50			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047124	9047124	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9047124G>A	uc002mkp.3	-	4	34711	c.34507C>T	c.(34507-34509)Ccc>Tcc	p.P11503S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11505	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						GTTGTCCTGGGAACCATTGTG	0.507000														79			14		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34087804	34087804	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34087804G>A	uc001bxm.1	-	36	5967	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	CSMD2_uc001bxn.1_Silent_p.I1890I|CSMD2_uc001bxo.1_Silent_p.I803I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1890	Sushi 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)				CAGATACGCTGATATCTGAGT	0.517000														173			34		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16411695	16411695	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:16411695C>A	uc003cay.3	-	5	1200	c.918G>T	c.(916-918)aaG>aaT	p.K306N	RFTN1_uc010hes.3_Missense_Mutation_p.K270N	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	306						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						TCTGGCCATTCTTGGAGACAT	0.517000														126			32		1.62565e-12	1.64493e-12	1	1	0
CLEC4D	338339	broad.mit.edu	37	12	8670788	8670788	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:8670788G>A	uc001qun.3	+	2	343	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	50					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CACGCTGTAAGAGAGGCACAG	0.398000														16			3		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781738	128781738	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:128781738C>T	uc001qet.3	+	1	884	c.570C>T	c.(568-570)atC>atT	p.I190I	KCNJ5_uc009zck.3_Silent_p.I190I|KCNJ5_uc001qew.3_Silent_p.I190I	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	190					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTGTCAAGATCAGCCAGCCCA	0.557000														102			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453651	82453651	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82453651C>T	uc003uhx.2	-	18	14786	c.14497G>A	c.(14497-14499)Gat>Aat	p.D4833N	PCLO_uc003uhv.2_Missense_Mutation_p.D4833N|PCLO_uc003uht.1_Missense_Mutation_p.D275N|PCLO_uc003uhu.1_Missense_Mutation_p.D254N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4695					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCCATGATCAATGCTTTCA	0.438000														37			4		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50731657	50731657	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:50731657G>A	uc002lfe.2	+	9	2261	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	DCC_uc010xdr.1_Missense_Mutation_p.E397K|DCC_uc010dpf.2_Missense_Mutation_p.E204K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	549	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATTACCTGGGAACCCCCTGC	0.448000														199			23		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4907323	4907323	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4907323C>T	uc002gan.2	+	10	1252	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	299					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						GGATTTTATCCCCTACAGGGA	0.517000														101			22		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948600	82948600	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:82948600C>T	uc003kim.3	-	1	215	c.144G>A	c.(142-144)aaG>aaA	p.K48K	HAPLN1_uc003kin.3_Silent_p.K48K	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	48	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GTGAAAACACCTTGGCTTGCT	0.363000														46			6		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41166046	41166046	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:41166046C>T	uc010jxm.1	-	1	356	c.177G>A	c.(175-177)agG>agA	p.R59R		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	59	Ig-like V-type.			R -> K (in Ref. 3; BAB14668).	T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTTCTTCTTCCTGATTTTGC	0.552000														173			9		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341729	39341729	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:39341729C>T	uc003jlv.4	-	2	346	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	86	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CACACACTGTCGTCTGTCTCC	0.453000														48			17		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192778	34192778	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:34192778G>A	uc011kap.2	+	15	2325	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	651	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAACTGGAATGAAATTGGTCC	0.517000														118			12		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086083	92086083	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:92086083G>T	uc001pdj.4	+	0	822	c.805G>T	c.(805-807)Gtc>Ttc	p.V269F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	269	Cadherin 3.				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)				AATCCATGTAGTCACTCATGT	0.438000										TCGA Ovarian(4;0.039)				110			13		0.00010058	0.000101184	1	1	0
UNC5B	219699	broad.mit.edu	37	10	73039766	73039766	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:73039766G>A	uc001jro.3	+	1	719	c.268G>A	c.(268-270)Gac>Aac	p.D90N	UNC5B_uc001jrp.3_Missense_Mutation_p.D90N	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	90	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAGCCAGAACGACCACGTCAC	0.647000														79			7		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107493	168107493	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:168107493C>T	uc002udx.3	+	8	9680	c.9591C>T	c.(9589-9591)atC>atT	p.I3197I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.I3022I|XIRP2_uc010fpq.3_Silent_p.I2975I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3022					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						AAGGGGCCATCCCATGTCCAG	0.473000														73			11		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183326	118183326	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:118183326G>A	uc003yoh.3	+	6	1113	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SLC30A8_uc010mcz.3_Missense_Mutation_p.D246N|SLC30A8_uc003yog.3_Missense_Mutation_p.D246N|SLC30A8_uc011lia.2_Missense_Mutation_p.D246N|SLC30A8_uc022bab.1_Missense_Mutation_p.D246N	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	295					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.V294V(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTTAGCAGTCGACGGGGTGCT	0.443000														76			5		0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69639974	69639974	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69639974C>T	uc004dyg.3	+	30	3701	c.3558C>T	c.(3556-3558)tcC>tcT	p.S1186S	KIF4A_uc010nkw.3_Silent_p.S1186S|GDPD2_uc010nkx.2_5'Flank|GDPD2_uc010nky.2_5'Flank|GDPD2_uc011mpk.2_5'Flank|GDPD2_uc004dyh.3_5'Flank|GDPD2_uc011mpl.2_5'Flank|GDPD2_uc011mpm.2_5'Flank	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1186	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGCTCCCTCCCCTTTTGACC	0.493000														37			3		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40013305	40013305	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:40013305G>A	uc001rmb.2	-	0	539	c.113C>T	c.(112-114)cCc>cTc	p.P38L		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	38	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GCCAATGATGGGATAGAGGGT	0.517000														76			9		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987921	123987921	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:123987921G>A	uc003ehg.3	+	4	909	c.782G>A	c.(781-783)gGc>gAc	p.G261D	KALRN_uc010hrv.1_Missense_Mutation_p.G261D|KALRN_uc003ehf.1_Missense_Mutation_p.G261D|KALRN_uc011bjy.1_Missense_Mutation_p.G261D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	261					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						TGCAGCGACGGCTTCTCAGGA	0.632000														22			6		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714533	138714533	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:138714533G>A	uc004cgr.4	-	10	1974	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	CAMSAP1_uc004cgq.4_Silent_p.F548F|CAMSAP1_uc010nbg.3_Silent_p.F380F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	658						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCCCATGGGGAATTCTGAGC	0.592000														20			5		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925727	55925727	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55925727G>A	uc003pcs.3	-	25	2546	c.2314C>T	c.(2314-2316)Cca>Tca	p.P772S	COL21A1_uc010jzz.3_Missense_Mutation_p.P157S|COL21A1_uc011dxg.2_Missense_Mutation_p.P145S|COL21A1_uc011dxh.2_Missense_Mutation_p.P157S|COL21A1_uc003pcr.3_Missense_Mutation_p.P129S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	772	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGAGGACCTGGATCCCCAGGT	0.502000														37			7		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155026977	155026977	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155026977C>T	uc001fgr.1	+	5	708	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.R187C|ADAM15_uc010peu.1_Missense_Mutation_p.R220C|ADAM15_uc001fgx.1_Missense_Mutation_p.R203C|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.R203C|ADAM15_uc001fgs.1_Missense_Mutation_p.R203C|ADAM15_uc010pev.1_Missense_Mutation_p.R213C|ADAM15_uc001fgu.1_Missense_Mutation_p.R203C|ADAM15_uc001fgv.1_Missense_Mutation_p.R203C|ADAM15_uc001fgw.1_Missense_Mutation_p.R203C	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	203					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			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)			GCGCCACATTCGCCGGGTGAG	0.597000														49			9		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166973433	166973433	+	Silent	SNP	G	A	A	rs142019908		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:166973433G>A	uc001gdy.1	+	5	611	c.540G>A	c.(538-540)aaG>aaA	p.K180K	MAEL_uc021peh.1_Silent_p.K124K|MAEL_uc001gdz.1_Silent_p.K149K|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	180					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTAGTCACAAGATTCCTATTT	0.388000														72			10		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:92251698G>A	uc001xzu.4	-	10	1361	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	390	C2.					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)		CCACCTTCACGAAAAAACCTA	0.323000														158			12		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62125254	62125254	+	Silent	SNP	G	A	A	rs61745997		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:62125254G>A	uc002jdz.2	-	18	2606	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	831	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	p.P830L(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCTCCAGAAGAACGGGTGTT	0.433000														48			12		0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12059233	12059233	+	Silent	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:12059233T>C	uc002dbv.3	+	0	270	c.52T>C	c.(52-54)Ttg>Ctg	p.L18L	TNFRSF17_uc010buy.3_Silent_p.L18L|TNFRSF17_uc010buz.3_Silent_p.L18L	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	18					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TGACAGTTTGTTGCATGCTTG	0.403000			T	IL2	intestinal T-cell lymphoma									119			35		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74637392	74637392	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:74637392G>A	uc002axt.2	-	2	773	c.618C>T	c.(616-618)gcC>gcT	p.A206A	CYP11A1_uc002axs.2_Silent_p.A48A|CYP11A1_uc010bjm.1_Silent_p.A48A|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.3_Silent_p.A206A	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	206					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TACACTCAAAGGCAAAGCGGA	0.577000														48			3		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129905216	129905216	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:129905216A>C	uc003qbr.3	-	12	1844	c.1755T>G	c.(1753-1755)caT>caG	p.H585Q	ARHGAP18_uc011ebw.2_Intron	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	585					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTTTCGAAAGATGGGGAGCTT	0.473000														41			7		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169993919	169993919	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169993919C>T	uc002ues.3	-	75	13816	c.13603G>A	c.(13603-13605)Gtg>Atg	p.V4535M		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4535					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTGAACCACTTTGACAGCA	0.428000														98			5		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058278	43058278	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43058278G>A	uc002xma.3	+	9	1487	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	HNF4A_uc002xlu.3_Silent_p.P434P|HNF4A_uc002xlv.3_Silent_p.P444P|HNF4A_uc010ggq.3_Silent_p.P459P|HNF4A_uc002xlz.3_Silent_p.P456P	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	466					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCAGCCGACCATCACCA	0.647000														94			14		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579440	55579440	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55579440C>T	uc001nhw.1	+	0	498	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCTTAGGATCCCCTTCTATA	0.453000														152			8		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83360865	83360865	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:83360865C>T	uc004eej.2	-	15	1421	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	RPS6KA6_uc011mqt.2_Missense_Mutation_p.R462Q|RPS6KA6_uc011mqu.2_Missense_Mutation_p.R359Q	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	462	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						TGAAGGGTCTCGCTTACTTTT	0.308000														21			3		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003387	50003387	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:50003387C>T	uc010ria.2	-	0	685	c.651G>A	c.(649-651)gtG>gtA	p.V217V		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAAGATGATCACATAGGATA	0.398000														46			6		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382280	41382280	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:41382280G>A	uc003jmm.1	-	1	562	c.460C>T	c.(460-462)Cac>Tac	p.H154Y		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	154	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.Y153C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTTTCATGGTGATATTTCTGC	0.413000														154			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277829	152277829	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152277829G>A	uc001ezu.1	-	2	9569	c.9533C>T	c.(9532-9534)tCa>tTa	p.S3178L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3178	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)			ACGTGACACTGAGTGCCTGGA	0.562000									Ichthyosis					336			36		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582715	158582715	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158582715G>A	uc001fst.1	-	50	7225	c.7026C>T	c.(7024-7026)ttC>ttT	p.F2342F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2342	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTCAATCAGGAAAGCAGTAT	0.458000														36			8		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115947744	115947744	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:115947744A>G	uc001lbg.1	+	1	307	c.154A>G	c.(154-156)Aat>Gat	p.N52D	TDRD1_uc001lbf.3_Missense_Mutation_p.N43D|TDRD1_uc001lbh.1_Missense_Mutation_p.N43D|TDRD1_uc001lbi.1_Missense_Mutation_p.N43D	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	52					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TAACCACCCTAATTTCAGGCT	0.363000														95			6		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825570	26825570	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:26825570C>T	uc001zbb.3	-	6	849	c.746G>A	c.(745-747)tGg>tAg	p.W249*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.W122*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.W108*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.W193*|GABRB3_uc001zba.3_Nonsense_Mutation_p.W193*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	193					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCCGCCTCGCCAGTAAAACTC	0.517000														85			5		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20541109	20541109	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:20541109C>T	uc003gpr.1	+	18	2082	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	SLIT2_uc003gps.1_Silent_p.F618F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	626					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGACAGTTTCATAGGACTCA	0.393000														37			10		0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866065	140866065	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140866065C>T	uc003ett.3	+	2	1021	c.776C>T	c.(775-777)tCc>tTc	p.S259F	SPSB4_uc010hum.3_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	259	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GACATCAGCTCCCTGCCCCTG	0.637000														32			14		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040562	103040562	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103040562C>T	uc002tbx.3	+	3	846	c.362C>T	c.(361-363)tCt>tTt	p.S121F	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	121					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTGAATAATTCTGGGTCATAT	0.358000														62			7		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28270426	28270426	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	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														48			15		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567264	136567264	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:136567264C>T	uc002tuu.1	-	7	2664	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	885	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAACTTTTCCCAAACGACT	0.493000														139			15		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457547	45457547	+	RNA	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:45457547G>A	uc001rol.3	-	0		c.1648C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CAGGGGCAAGGAAGGCAGGCG	0.498000														20			7		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55148452	55148452	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55148452C>T	uc010ooe.1	+	13	2829	c.2505C>T	c.(2503-2505)tcC>tcT	p.S835S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.S403S|HEATR8_uc010ood.1_Silent_p.S353S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.S835S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.S37S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	835						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCGGGCTTCCATCGTGCCCC	0.632000														37			8		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572332	142572332	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142572332G>A	uc003wbx.2	-	10	1593	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	TRPV6_uc003wbw.1_Missense_Mutation_p.S241F|TRPV6_uc010lou.1_Missense_Mutation_p.S326F	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	455					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGTGCAAAGGACATGGGTAC	0.592000														52			24		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45360902	45360902	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:45360902C>T	uc002ilj.3	+	2	368	c.348C>T	c.(346-348)ctC>ctT	p.L116L	ITGB3_uc002ili.1_Silent_p.L116L|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	116					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGATTGCACTCCGGCTCCGGC	0.612000														43			4		0	0	1	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133769225	133769225	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:133769225A>T	uc001lks.3	+	6	1022	c.1021A>T	c.(1021-1023)Atg>Ttg	p.M341L	PPP2R2D_uc001lkr.3_Missense_Mutation_p.M147L|PPP2R2D_uc001lkt.3_Missense_Mutation_p.M147L|PPP2R2D_uc009yay.3_Missense_Mutation_p.M209L	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, delta (PPP2R2D), transcript variant 1, mRNA.	374					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CTTCTTCAGGATGTTTGATAG	0.587000														33			6		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117703	46117703	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	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														155			9		0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717689	72717689	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:72717689G>A	uc003txw.3	-	8	1271	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.F398F|NSUN5_uc003txv.3_Silent_p.F398F|NSUN5_uc003txx.3_Silent_p.F360F	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	398							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CGGCACCCGGGAACGTGCTCA	0.647000														30			5		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122263	141122263	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141122263C>T	uc002tvj.1	-	71	12070	c.11098G>A	c.(11098-11100)Gga>Aga	p.G3700R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3700	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3700*(2)|p.G3700V(1)		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)		GAGTTGTCTCCACAGTCGTCC	0.408000										TSP Lung(27;0.18)				76			13		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51007790	51007791	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:51007790_51007791GG>AA	uc003bmm.3	-	18	2394_2395	c.2295_2296CC>TT	c.(2293-2298)ttccaa>ttTTaa	p.Q766*	CPT1B_uc003bmk.4_Nonsense_Mutation_p.Q766*|CPT1B_uc003bml.3_Nonsense_Mutation_p.Q766*|CPT1B_uc003bmo.3_Nonsense_Mutation_p.Q766*|CPT1B_uc011asa.2_Nonsense_Mutation_p.Q732*|CPT1B_uc003bmn.3_Nonsense_Mutation_p.Q766*|CPT1B_uc011asb.2_Nonsense_Mutation_p.Q685*|CPT1B_uc003bmp.3_Nonsense_Mutation_p.Q561*|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_5'Flank	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	766					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TTGGGAACTTGGAAAAGATCAG	0.550000														114			7		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38925311	38925311	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:38925311C>T	uc002hvf.3	-	5	1053	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	336	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GCAGTAATTTCCTTCAGTCTC	0.413000														31			6		0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636366	44636366	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44636366C>T	uc002oyj.1	+	4	1842	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	ZNF225_uc010ejf.1_Silent_p.V533V	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	533					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)				ATCGCAGAGTCCACACTGGAG	0.438000														81			16		0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029430	68029431	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68029430_68029431CC>TT	uc001onr.4	-	3	1474_1475	c.1032_1033GG>AA	c.(1030-1035)ccggag>ccAAag	p.E345K		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	345						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TCTACCTGCTCCGGTGCCTGGG	0.639000														53			5		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327067	16327067	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:16327067A>T	uc003nbt.3	-	7	2446	c.1475T>A	c.(1474-1476)aTc>aAc	p.I492N	ATXN1_uc010jpi.3_Missense_Mutation_p.I492N|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	492					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCGACCGGGATGAGCAGGGG	0.667000														214			37		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228128547	228128547	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228128547G>A	uc002vom.2	+	20	1364	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	401	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCTGAAAGGAAGTAAAGGG	0.522000														36			7		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71056364	71056364	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71056364C>T	uc001swi.2	-	10	1933	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.E262K|PTPRR_uc009zrs.3_Missense_Mutation_p.E301K|PTPRR_uc010stq.2_Missense_Mutation_p.E395K|PTPRR_uc010str.1_Missense_Mutation_p.E356K	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	507	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)		CCTCTCTTTTCCGGCCAGTAT	0.368000														29			5		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312891	10312891	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10312891G>A	uc002gmm.2	-	15	1697	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	534	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGGATGGAGAAGATGCCCA	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					47			14		0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056617	26056617	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:26056617G>A	uc003nfw.3	-	0	83	c.40C>T	c.(40-42)Cct>Tct	p.P14S		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	14					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTCTCCGCAGGAGGCGCGGCA	0.622000														82			10		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833756	101833756	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:101833756C>T	uc001pgm.3	+	5	2260	c.1990C>T	c.(1990-1992)Cac>Tac	p.H664Y	KIAA1377_uc001pgn.3_Missense_Mutation_p.H620Y|KIAA1377_uc010run.2_Missense_Mutation_p.H465Y|KIAA1377_uc009yxa.1_Missense_Mutation_p.H465Y	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	664							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCAACAATTCCACATTCAAAG	0.368000														69			6		0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041190	56041190	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56041190G>A	uc010ygc.2	-	3	972	c.957C>T	c.(955-957)atC>atT	p.I319I		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	319	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCTGATGGCGATCACAGCGC	0.756000														34			9		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70916954	70916954	+	Silent	SNP	C	T	T	rs139638138	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70916954C>T	uc003pfc.1	+	50	3522	c.3405C>T	c.(3403-3405)gcC>gcT	p.A1135A		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1135					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGTCTCATGCCCATCAGCGCA	0.547000														169			21		0	0	1	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453526	143453526	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143453526C>T	uc003wdk.4	-	0	1318	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	409						integral to membrane											TTCCTCTATTCGGTAATTTTC	0.373000														147			13		0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105563561	105563561	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:105563561G>A	uc003pqw.3	-	7	1115	c.958_splice	c.e7+1	p.H320_splice	BVES_uc003pqx.3_Splice_Site_p.H320_splice|BVES_uc003pqy.3_Splice_Site_p.H320_splice	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	320					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GATAACTTACGAAGAGAGGAC	0.443000														66			16		0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54671847	54671848	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:54671847_54671848CC>AT	uc002iup.2	+	0	788_789	c.263_264CC>AT	c.(262-264)ccc>cAT	p.P88H		NM_005450	NP_005441	Q13253	NOGG_HUMAN	Homo sapiens noggin (NOG), mRNA.	88					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of BMP signaling pathway|negative regulation of astrocyte differentiation|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					GAGGAccggcccggcgggggcg	0.728000														21			4		0	0	1	0	0
C16orf57	79650	broad.mit.edu	37	16	58036399	58036399	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:58036399C>T	uc002emz.3	+	1	226	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	ZNF319_uc002emx.1_5'Flank|C16orf57_uc002emy.3_Non-coding_Transcript|C16orf57_uc010via.2_Missense_Mutation_p.P39S|C16orf57_uc010vib.2_Missense_Mutation_p.P39S|C16orf57_uc010vic.1_5'UTR	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	Homo sapiens chromosome 16 open reading frame 57 (C16orf57), transcript variant 1, mRNA.	39										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	8						GAGCCCCCTTCCCAGGCAGAG	0.493000														93			12		0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100492726	100492726	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:100492726G>A	uc004egz.2	+	4	769	c.400G>A	c.(400-402)Gat>Aat	p.D134N	DRP2_uc011mrh.1_Missense_Mutation_p.D56N	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	134					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCTACAGGGGGATGTGGCCCT	0.542000														80			20		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68688093	68688093	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:68688093C>T	uc003hdq.3	-	9	1284	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.A188T|TMPRSS11D_uc011caj.2_Missense_Mutation_p.A290T	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	407	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCAAGGTAGGCTGTCACTCGA	0.493000														93			18		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141113970	141113970	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141113970G>A	uc002tvj.1	-	74	12443	c.11471C>T	c.(11470-11472)tCt>tTt	p.S3824F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3824	EGF-like 8.				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)		ACAGAAAACAGATGTTTTTAT	0.338000										TSP Lung(27;0.18)				46			11		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30982479	30982479	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:30982479A>G	uc003xio.4	+	22	3576	c.2788A>G	c.(2788-2790)Atg>Gtg	p.M930V	WRN_uc010lvk.3_Missense_Mutation_p.M397V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	930					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTGGGAATTATGGGAACTGA	0.318000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					92			27		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1260663	1260663	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:1260663C>T	uc003jcb.1	-	11	2954	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	TERT_uc003jbz.1_Missense_Mutation_p.A162T|TERT_uc003jcc.1_Missense_Mutation_p.A903T|TERT_uc003jca.1_Missense_Mutation_p.A954T|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.A118T	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	966	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCTCCCAGCCTTGAAGCCG	0.582000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					55			6		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934106	10934106	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:10934106C>T	uc002yip.1	-	15	1239	c.871G>A	c.(871-873)Gat>Aat	p.D291N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D273N|TPTE_uc002yir.1_Missense_Mutation_p.D253N|TPTE_uc010gkv.1_Missense_Mutation_p.D153N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	291	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D291Y(2)|p.D273Y(2)|p.V291I(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)		TGCTTAGGATCGTAAGCTCTT	0.308000														98			8		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176984009	176984009	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176984009C>T	uc001glc.3	-	7	1653	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ASTN1_uc001glb.1_Missense_Mutation_p.E481K|ASTN1_uc001gld.1_Missense_Mutation_p.E481K|ASTN1_uc009wwx.1_Missense_Mutation_p.E481K|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	489	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGAGGCATTCCCCTTAGAAG	0.433000														209			35		0	0	1	0	0
LOC643486	643486	broad.mit.edu	37	X	95592479	95592479	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:95592479C>T	uc010nmx.3	-	0		c.423G>A								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		TTCCCAGATCCCTCTGATTTT	0.393000														23			5		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520036	23520036	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:23520036T>C	uc001bgn.3	-	0	1187	c.677A>G	c.(676-678)aAc>aGc	p.N226S		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	226					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGGATGCGGTTCCGGGCAGC	0.592000														49			9		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708303	152708303	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152708303G>A	uc021zhb.1	-	51	8614	c.8391C>T	c.(8389-8391)tcC>tcT	p.S2797S	SYNE1_uc003qot.4_Silent_p.S2804S|SYNE1_uc003qou.4_Silent_p.S2797S|SYNE1_uc010kjb.1_Silent_p.S2780S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2797					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)		AGAGCTCCCTGGACTTCGCAA	0.478000										HNSCC(10;0.0054)				102			9		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110968173	110968173	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:110968173C>T	uc011msy.2	+	14	1714	c.1613C>T	c.(1612-1614)cCa>cTa	p.P538L	ALG13_uc011msx.2_Missense_Mutation_p.P434L|ALG13_uc011msz.2_Missense_Mutation_p.P460L|ALG13_uc011mta.2_Missense_Mutation_p.P434L|ALG13_uc011mtb.2_Missense_Mutation_p.P434L	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	538	Tudor.				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						CATGTTGTTCCACTGGCTAAC	0.433000														48			22		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071149	70071149	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70071149G>A	uc010kak.3	+	27	4260	c.3984G>A	c.(3982-3984)atG>atA	p.M1328I	BAI3_uc003pev.4_Missense_Mutation_p.M1328I|BAI3_uc011dxx.2_Missense_Mutation_p.M534I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1328					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAGCAAAATGAATATTGGCA	0.383000														63			11		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039574	55039574	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55039574C>T	uc003pcl.3	+	0	504	c.189C>T	c.(187-189)atC>atT	p.I63I	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	63					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTACATCATCGTGTTCGTCG	0.612000														72			10		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626125	140626125	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140626125C>T	uc003lje.3	+	0	979	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	327	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGGGGACTTTCTGGAAA	0.413000														130			12		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:135649738G>A	uc003yup.3	-	2	600	c.414C>T	c.(412-414)atC>atT	p.I138I	ZFAT_uc003yun.3_Silent_p.I126I|ZFAT_uc003yuo.3_Silent_p.I126I|ZFAT_uc010meh.3_Silent_p.I126I|ZFAT_uc010mej.3_Silent_p.I138I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.I126I|ZFAT_uc003yur.3_Silent_p.I126I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000														91			7		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54327202	54327202	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54327202G>A	uc002qcj.4	-	0	447	c.227C>T	c.(226-228)aCc>aTc	p.T76I	NLRP12_uc002qch.4_Missense_Mutation_p.T76I|NLRP12_uc002qci.4_Missense_Mutation_p.T76I|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.T76I	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	76	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCGCTCAAAGGTGCTGAGAGC	0.612000														137			9		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156101	68156101	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:68156101C>T	uc002evo.2	+	1	631	c.315C>T	c.(313-315)ccC>ccT	p.P105P	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Silent_p.P105P|NFATC3_uc002evm.2_Silent_p.P105P|NFATC3_uc002evn.2_Silent_p.P105P|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	105					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTCCCAAACCCTTTGAGTGCC	0.403000														73			4		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676956	56676956	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56676956G>A	uc010dcz.2	-	13	1886	c.1768C>T	c.(1768-1770)Cca>Tca	p.P590S	TEX14_uc002iwr.2_Missense_Mutation_p.P584S|TEX14_uc002iws.2_Missense_Mutation_p.P584S|TEX14_uc010dda.2_Missense_Mutation_p.P364S	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	590						cytoplasm	ATP binding|protein kinase activity	p.E590D(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCAGACATGGATCTGGGGCC	0.512000														61			9		0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669600	99669600	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99669600C>T	uc003uss.3	-	2	846	c.528G>A	c.(526-528)gaG>gaA	p.E176E	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Silent_p.E169E|ZNF3_uc010lgj.3_Silent_p.E133E|ZNF3_uc003usr.3_Silent_p.E169E|ZNF3_uc003ust.4_Silent_p.E169E			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	169					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TCTCGCTTCTCTCTCCCCTGG	0.488000														121			11		0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150939604	150939604	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:150939604G>A	uc001evy.3	-	7	1113	c.687C>T	c.(685-687)atC>atT	p.I229I	CERS2_uc001evz.3_Silent_p.I229I|CERS2_uc009wmh.3_Silent_p.I79I	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	229	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCCCAGCTCGGATGTAATTGG	0.512000														65			7		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:128341887G>A	uc002top.3	+	12	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	512	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000														33			3		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96706854	96706854	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:96706854C>T	uc010avm.1	+	2	385	c.189C>T	c.(187-189)ttC>ttT	p.F63F	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.F36F|BDKRB2_uc001yfg.2_Silent_p.F63F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	63					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGCCCCCCTTCCTCTGGGTGC	0.592000														131			12		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51378066	51378066	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51378066G>T	uc002ptv.3	+	1	177	c.136G>T	c.(136-138)Gga>Tga	p.G46*	KLK2_uc010eog.3_Intron|KLK2_uc010yck.2_Nonsense_Mutation_p.G46*|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_5'UTR|KLK2_uc010ycm.2_Intron|KLK2_uc002ptu.3_Nonsense_Mutation_p.G46*	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	46	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GTACAGTCATGGATGGGCACA	0.617000			T	ETV4	prostate									41			9		1.04858e-14	1.06124e-14	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54805802	54805802	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54805802G>A	uc003pck.3	+	4	2149	c.2033G>A	c.(2032-2034)gGa>gAa	p.G678E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	678										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTAGATCCTGGAAATAGTAAG	0.358000														46			5		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469862	72469862	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72469862C>T	uc002jkv.3	+	1	549	c.228C>T	c.(226-228)tcC>tcT	p.S76S	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	76	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCCGAGTGTCCATCAGGGACA	0.532000														70			14		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050806	238050806	+	Silent	SNP	C	T	T	rs113242065		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:238050806C>T	uc001hym.3	-	4	896	c.609G>A	c.(607-609)gtG>gtA	p.V203V	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	203	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGGCGAGGTCACGTTCCGAG	0.522000														58			9		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273956	10273956	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:10273956C>T	uc010uym.2	-	2	623	c.313G>A	c.(313-315)Gac>Aac	p.D105N	GRIN2A_uc002czo.4_Missense_Mutation_p.D105N|GRIN2A_uc002czr.4_Missense_Mutation_p.D105N|GRIN2A_uc010buk.3_Missense_Mutation_p.D105N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	105					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)	GCCTCCTGGTCCGTGTCGTCC	0.597000														101			16		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670755	134670755	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:134670755G>A	uc003eqt.3	+	2	1041	c.666G>A	c.(664-666)cgG>cgA	p.R222R	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	222	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R222Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGATTGCTCGGGGCACATGCA	0.527000														184			11		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583576	7583576	+	Silent	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7583576A>G	uc003mxp.1	+	23	6360	c.6081A>G	c.(6079-6081)gaA>gaG	p.E2027E	DSP_uc003mxq.1_Silent_p.E1428E|DSP_uc021yle.1_Silent_p.E1584E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2027	Globular 2.				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)		CTCCTAAGGAAAAATACTCTT	0.468000														62			8		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	308073	308073	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:308073G>A	uc001qhz.3	-	8	1400	c.736C>T	c.(736-738)Ccg>Tcg	p.P246S	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.P246S|SLC6A12_uc001qib.3_Missense_Mutation_p.P246S|SLC6A12_uc009zdh.2_Missense_Mutation_p.P246S	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	246					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATCAGGTACGGAAACGTGGCT	0.577000														56			14		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021659	51021659	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51021659C>T	uc002pss.3	-	2	1448	c.1311G>A	c.(1309-1311)atG>atA	p.M437I		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	437	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGTTCGTCACCATGCACGTGT	0.701000														56			18		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122755703	122755703	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:122755703C>T	uc003vkm.3	-	14	1682	c.1657G>A	c.(1657-1659)Gct>Act	p.A553T	SLC13A1_uc010lks.3_Missense_Mutation_p.A429T	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	553						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCAAGTCCAGCTTTAACCTTG	0.423000														42			17		0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29552283	29552283	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:29552283C>T	uc003szz.3	+	12	1776	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	CHN2_uc011jzs.2_Silent_p.L522L|CHN2_uc010kva.3_3'UTR|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Silent_p.L412L|CHN2_uc011jzt.2_Silent_p.L460L|CHN2_uc010kvd.3_Silent_p.L303L|CHN2_uc011jzu.2_Silent_p.L432L|CHN2_uc010kvh.3_Silent_p.L207L|CHN2_uc010kvi.3_Silent_p.L239L|CHN2_uc010kve.3_3'UTR|CHN2_uc003taa.3_Silent_p.L311L|CHN2_uc010kvf.3_Silent_p.L253L|CHN2_uc010kvg.3_Silent_p.L265L|CHN2_uc010kvj.3_Silent_p.L220L|CHN2_uc010kvk.3_Silent_p.L122L|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Silent_p.L266L|CHN2_uc011jzv.2_Silent_p.L240L	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	447	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CCTGACCACCCTGCATGATAT	0.453000														63			9		0	0	1	0	0
ZNF444	55311	broad.mit.edu	37	19	56669966	56669966	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56669966C>T	uc002qmm.3	+	3	789	c.401C>T	c.(400-402)cCc>cTc	p.P134L	ZNF444_uc002qmn.2_Missense_Mutation_p.P134L	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN	Homo sapiens zinc finger protein 444 (ZNF444), transcript variant 1, mRNA.	134					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGGATGATTCCCTTAGGTGAG	0.657000														33			4		0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3832621	3832621	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:3832621C>T	uc010qxw.2	+	2	328	c.303C>T	c.(301-303)ttC>ttT	p.F101F	PGAP2_uc001lyl.3_Missense_Mutation_p.S34F|PGAP2_uc010qxy.2_Silent_p.F101F|PGAP2_uc001lyn.4_Intron|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_Intron|PGAP2_uc001lys.3_Silent_p.F44F|PGAP2_uc001lyt.3_Intron|PGAP2_uc021qcm.1_Silent_p.F44F	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	44					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCCTGCTCTTCCACTTCAAGG	0.552000														38			4		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525066	9525066	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9525066G>A	uc002wnl.2	-	8	2364	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	PAK7_uc002wnk.2_Missense_Mutation_p.P607S|PAK7_uc002wnj.2_Missense_Mutation_p.P607S|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	607	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCCAGTAGGGAGTGCCAACC	0.498000														106			22		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151869543	151869543	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:151869543G>A	uc003qol.3	+	4	782	c.693G>A	c.(691-693)acG>acA	p.T231T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	231																	GCAGAGAAACGATCATGAGGC	0.408000														32			3		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956392	128956392	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:128956392G>A	uc003kvb.1	+	8	1542	c.1542G>A	c.(1540-1542)caG>caA	p.Q514Q	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.	514	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)		TTAAAGGACAGAATCTTGGTG	0.393000														102			13		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470635	4470636	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4470635_4470636GG>AA	uc001lyz.2	+	0	111_112	c.66_67GG>AA	c.(64-69)ctggaa>ctAAaa	p.E23K		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCAGGCCTGGAACACCTGCA	0.510000														70			8		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546159	11546159	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:11546159C>T	uc010shk.1	-	2	888	c.853G>A	c.(853-855)Gga>Aga	p.G285R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.617000														332			25		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053605	50053605	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:50053605G>A	uc004dox.4	+	5	2734	c.2436G>A	c.(2434-2436)aaG>aaA	p.K812K	CCNB3_uc004doy.3_Silent_p.K812K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	812					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCATTGAGAAGGAAGCTGTCC	0.557000														19			5		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483077	32483077	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:32483077G>A	uc002hhu.3	-	0	749	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	159					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGCCCACACGGTGCAGGAAC	0.567000														102			9		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658818	72658818	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:72658818G>A	uc003txs.1	-	12	1094	c.166C>T	c.(166-168)Cca>Tca	p.P56S	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		agacatgttggaatattctgt	0.413000														103			18		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028656	37028656	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:37028656C>T	uc004ddl.2	+	0	2225	c.2173C>T	c.(2173-2175)Cat>Tat	p.H725Y		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	725										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						TCGCGTATCTCATCTCTGCCC	0.642000														32			17		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276555	108276555	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:108276555C>T	uc003ymn.3	-	7	1698	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ANGPT1_uc011lhv.2_Silent_p.G210G|ANGPT1_uc003ymo.3_Silent_p.G409G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	410	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCCTGCTGTCCCAGTGTGAC	0.398000														54			6		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76388580	76388580	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:76388580C>T	uc002jvm.3	+	1	179	c.167C>T	c.(166-168)cCc>cTc	p.P56L	PGS1_uc010wtt.2_Intron	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	56					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTATTGGCTCCCTTGCTGTCC	0.537000														54			4		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863845	55863845	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55863845G>A	uc010spn.2	-	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GTAGAAATAAGAAAATTACAA	0.358000														35			3		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795638	96795638	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96795638G>A	uc010yui.2	-	7	799	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	267					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GAGGCACTCAGGTTCCATCGC	0.667000														54			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063387	9063387	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9063387G>A	uc002mkp.3	-	2	24263	c.24059C>T	c.(24058-24060)tCa>tTa	p.S8020L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8022	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						TACAGGTTCTGAGCTTTTGTG	0.463000														70			5		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75086533	75086533	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75086533C>T	uc001dgg.3	-	7	1104	c.885G>A	c.(883-885)ggG>ggA	p.G295G	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.G89G	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	295								p.G295G(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						GCACATTTTTCCCCAAATAGA	0.363000														57			10		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75505560	75505560	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:75505560G>A	uc003kei.1	+	4	896	c.762_splice	c.e4-1	p.G254_splice		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	254					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCTCTTGGCAGGATTGGAGGA	0.517000														73			8		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809256	31809256	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:31809256G>A	uc001ivs.4	+	6	1056	c.993G>A	c.(991-993)aaG>aaA	p.K331K	ZEB1_uc001ivr.4_Silent_p.K113K|ZEB1_uc010qef.2_Silent_p.K113K|ZEB1_uc009xlj.1_Silent_p.K257K|ZEB1_uc010qeg.1_Silent_p.K190K|ZEB1_uc009xlk.1_Silent_p.K113K|ZEB1_uc001ivu.4_Silent_p.K332K|ZEB1_uc010qeh.2_Silent_p.K264K|ZEB1_uc001ivv.4_Silent_p.K311K|ZEB1_uc001ivt.4_Silent_p.K113K|ZEB1_uc009xlo.2_Silent_p.K314K|ZEB1_uc009xlp.3_Silent_p.K315K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	331					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACGGCAAAAGATAGAGAATA	0.433000														46			5		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680810	128680810	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:128680810G>A	uc010sbu.2	+	8	1629	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	FLI1_uc010sbt.2_Missense_Mutation_p.G236E|FLI1_uc010sbv.2_Missense_Mutation_p.G396E|FLI1_uc009zci.3_Missense_Mutation_p.G363E	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	429					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G429R(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCCACGGGGGGAATCTACCCC	0.562000			T	EWSR1	Ewing sarcoma									59			13		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110499029	110499029	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110499029G>A	uc003yne.3	+	58	9963	c.9859G>A	c.(9859-9861)Gaa>Aaa	p.E3287K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3287					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCATTCACTGAAAATATGAT	0.368000										HNSCC(38;0.096)				162			19		0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47542697	47542697	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:47542697C>G	uc002pfw.3	+	7	1033	c.837C>G	c.(835-837)caC>caG	p.H279Q	NPAS1_uc002pfy.3_Missense_Mutation_p.H279Q|NPAS1_uc010xyj.2_Missense_Mutation_p.H103Q	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	279					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TTCGGGCCCACGCCCTGGGCC	0.682000														70			17		0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85816137	85816137	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:85816137G>A	uc001dlb.3	-	3	719	c.558C>T	c.(556-558)atC>atT	p.I186I	DDAH1_uc001dlc.3_Silent_p.I83I|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Silent_p.I86I|DDAH1_uc009wco.3_Silent_p.I83I	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	186					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ACCCAATTGCGATCAGGTTAG	0.483000														143			34		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120385357	120385357	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:120385357G>A	uc002tmb.3	+	16	1899	c.787G>A	c.(787-789)Gag>Aag	p.E263K	PCDP1_uc010yyq.2_Missense_Mutation_p.E393K	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	549						cilium	calmodulin binding					Colorectal(110;0.196)					GGACTCCAACGAGTTGGTAGG	0.587000														76			12		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486289	8486289	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:8486289C>T	uc001mgi.1	-	2	1339	c.420G>A	c.(418-420)acG>acA	p.T140T	STK33_uc001mgj.1_Silent_p.T140T|STK33_uc001mgk.1_Silent_p.T140T|STK33_uc010rbn.1_Silent_p.T99T|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	140	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T140M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGCCCACTTCGTTTCTGTTT	0.413000														69			6		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112958883	112958883	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112958883A>T	uc001ebx.3	+	2	324	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	32						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)		TAGAAGCCTTAAAGGTATGTT	0.328000														63			14		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169835	113169835	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:113169835G>A	uc010mtz.3	-	37	8382	c.8045C>T	c.(8044-8046)tCa>tTa	p.S2682L	SVEP1_uc010mty.3_Missense_Mutation_p.S608L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2682	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACAGGTGTATGAAACCATGGT	0.453000														144			40		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659747	179659747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179659747G>A	uc021vsy.1	-	6	1372	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	TTN_uc021vsz.1_Nonsense_Mutation_p.Q383*|TTN_uc021vta.1_Nonsense_Mutation_p.Q383*|TTN_uc021vtb.1_Nonsense_Mutation_p.Q383*|TTN_uc002unb.2_Nonsense_Mutation_p.Q383*|TTN_uc010frg.1_Nonsense_Mutation_p.Q57*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	383							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q383L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTGCTCCTGGACACCGTAT	0.572000														58			6		0	0	1	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22617070	22617070	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:22617070C>T	uc009xkg.3	+	10	897	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.R145W	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	145	Pro/Ser-rich.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										TAGATTGGATCGGAAAGTAAA	0.284000														43			4		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426691	10426691	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10426691C>T	uc010coi.3	-	37	5639	c.5511G>A	c.(5509-5511)aaG>aaA	p.K1837K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K1837K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1837					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGCATTACGCTTTTGCTCAC	0.473000														76			22		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473506	56473506	+	Missense_Mutation	SNP	G	A	A	rs148438060		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56473506G>A	uc002qmh.3	+	3	2187	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	NLRP8_uc010etg.3_Missense_Mutation_p.E706K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	706						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGATAAGCTGGAAGTCCTGAC	0.512000														99			12		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027678	161027678	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161027678C>T	uc003qtl.3	-	17	2736	c.2616G>A	c.(2614-2616)atG>atA	p.M872I		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3380	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTAGTTCATGATCAAGC	0.517000														154			20		0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63959575	63959575	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:63959575A>T	uc001jlw.3	-	10	1329	c.1232T>A	c.(1231-1233)aTg>aAg	p.M411K	RTKN2_uc009xpf.1_Missense_Mutation_p.M213K|RTKN2_uc001jlv.3_Missense_Mutation_p.M65K	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	411					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CCGTGGTGACATAATCTCAAT	0.373000														60			5		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035008	201035008	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:201035008G>A	uc001gvv.3	-	21	3038	c.2811C>T	c.(2809-2811)ctC>ctT	p.L937L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	937					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)	TGAACTGTAGGAGGGTAGTGA	0.647000														27			5		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57966424	57966424	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57966424G>A	uc001sor.1	+	14	1839	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	KIF5A_uc010srr.1_Missense_Mutation_p.R455Q	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	544					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACACCAGCGAAAACGAATT	0.567000														69			7		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33587611	33587611	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:33587611G>A	uc002xbi.2	+	37	5126	c.4809G>A	c.(4807-4809)gaG>gaA	p.E1603E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1561						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGCTGGAGGAGACCAAGA	0.642000														37			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2836196	2836196	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:2836196C>T	uc022aqr.1	-	54	8894	c.8504G>A	c.(8503-8505)gGa>gAa	p.G2835E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2165E|CSMD1_uc010lrg.3_Missense_Mutation_p.G846E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2836	Sushi 20.					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)		GGCTGAAGATCCCAGCAAGTA	0.478000														16			4		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846749	55846749	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55846749G>A	uc001sgz.1	+	0	752	c.752G>A	c.(751-753)gGa>gAa	p.G251E		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATTGCCTATGGAAGCTGCATC	0.418000														63			7		0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31975337	31975337	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31975337A>C	uc010gek.3	-	5	671	c.547T>G	c.(547-549)Tgc>Ggc	p.C183G	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.C93G|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.C183G|CDK5RAP1_uc002wza.3_Missense_Mutation_p.C183G|CDK5RAP1_uc010gel.3_Missense_Mutation_p.C93G|CDK5RAP1_uc010gem.3_Missense_Mutation_p.C183G|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.C183G|CDK5RAP1_uc010gen.3_Missense_Mutation_p.C183G	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	183	MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCAGCCATGCAGCCTGGAAGG	0.488000														80			13		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94526105	94526105	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94526105C>T	uc001dqh.3	-	13	2252	c.2148G>A	c.(2146-2148)acG>acA	p.T716T	ABCA4_uc010otn.1_Silent_p.T716T	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	716			T -> M (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGATGAATATCGTCAGGAGGA	0.458000														67			17		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42266899	42266899	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42266899G>T	uc003bbi.3	+	3	896	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	243	Gln-rich.|Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCAGGTCCTGGTCCAGCCTCA	0.473000														109			16		1.5739e-10	1.59153e-10	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629440	9629440	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:9629440G>A	uc003jem.1	-	0	1024	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	235					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAAGTAGAGGATCAGGAAGG	0.488000														62			6		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70650417	70650417	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:70650417C>T	uc003xyl.3	-	4	1988	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	SLCO5A1_uc010lzb.3_Intron|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.R427R|SLCO5A1_uc010lzc.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	427						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCTTAAGATCCTGACAGCTG	0.348000														58			11		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013041	142013041	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142013041C>T	uc003vxg.3	+	0	35	c.6C>T	c.(4-6)ggC>ggT	p.G2G	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTAGCATGGGCTGCAGGCTGC	0.582000														49			7		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55340899	55340899	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55340899C>T	uc021vbm.1	+	6	1117	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010esf.3_Missense_Mutation_p.L267F|KIR3DL2_uc021vbo.1_Missense_Mutation_p.L345F|KIR3DL2_uc002qhk.4_Missense_Mutation_p.L362F|KIR3DL2_uc002qhl.4_Intron	NM_013289	NP_037421	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	362					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.L362I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tctccttcatctcTGGTGCTC	0.532000														67			6		0	0	1	0	0
MGARP	84709	broad.mit.edu	37	4	140187969	140187969	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:140187969C>T	uc003ihr.1	-	3	687	c.507G>A	c.(505-507)acG>acA	p.T169T		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	Homo sapiens chromosome 4 open reading frame 49 (C4orf49), mRNA.	169						integral to membrane											GGTTTACTTCCGTGGTTTCCC	0.532000														110			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399091	179399091	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179399091A>G	uc021vsy.1	-	306	94772	c.94547T>C	c.(94546-94548)gTt>gCt	p.V31516A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V25211A|TTN_uc021vta.1_Missense_Mutation_p.V25144A|TTN_uc021vtb.1_Missense_Mutation_p.V25019A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32443	Ig-like 140.						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)			TGTTCTGATAACTTTAGTACT	0.473000														65			7		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234337	21234337	+	Silent	SNP	C	T	T	rs149787297		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21234337C>T	uc002red.3	-	25	5531	c.5403G>A	c.(5401-5403)ctG>ctA	p.L1801L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1801					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L1801L(2)		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)	CATTGTATTTCAGGTCACTGT	0.403000														110			8		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685015	75685015	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75685015G>A	uc010oqz.1	-	14	1376	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	SLC44A5_uc001dgt.2_Missense_Mutation_p.S398L|SLC44A5_uc001dgs.2_Missense_Mutation_p.S356L|SLC44A5_uc001dgr.2_Missense_Mutation_p.S356L|SLC44A5_uc001dgu.3_Missense_Mutation_p.S398L|SLC44A5_uc010ora.2_Missense_Mutation_p.S392L|SLC44A5_uc010orb.2_Missense_Mutation_p.S268L	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	398						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.S398*(2)|p.A436V(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGTACCCCCGATGTCGCCAA	0.388000														50			17		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502663	20502663	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20502663G>A	uc010tkz.2	-	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTTCTCGGAGGAAATCTACAA	0.458000														49			13		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45972932	45972932	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:45972932G>A	uc003bgj.1	+	15	2063	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E		NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	639					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCACGGAAGGGAACCTGCGG	0.572000														61			9		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426678	212426678	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:212426678C>T	uc002veg.1	-	19	2535	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N	ERBB4_uc002veh.1_Missense_Mutation_p.D813N|ERBB4_uc010zji.1_Missense_Mutation_p.D803N|ERBB4_uc010zjj.1_Missense_Mutation_p.D803N|ERBB4_uc010fut.1_Missense_Mutation_p.D813N	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	813	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCAATGTTATCCTTGTGCTCG	0.458000										TSP Lung(8;0.080)				100			11		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196395070	196395070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196395070G>A	uc001gtd.1	-	10	1093	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Nonsense_Mutation_p.R345*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.R345*|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Nonsense_Mutation_p.R345*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.R320*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	345						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						AGTACCCTTCGAACCTGTACA	0.383000														61			16		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55923972	55923972	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55923972C>T	uc003pcs.3	-	28	2909	c.2677G>A	c.(2677-2679)Ggt>Agt	p.G893S	COL21A1_uc010jzz.3_Missense_Mutation_p.G278S|COL21A1_uc011dxg.2_Missense_Mutation_p.G266S|COL21A1_uc011dxh.2_Missense_Mutation_p.G244S|COL21A1_uc003pcr.3_Missense_Mutation_p.G250S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	893					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTGGGGGACCAGGAGGACCT	0.438000														27			7		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	1986935	1986935	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1986935G>A	uc001aiq.3	+	1	288	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	43	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GCTCTGTGAGGAAGTGAGAGA	0.592000														38			12		0	0	1	0	0
C8orf22	492307	broad.mit.edu	37	8	49986695	49986695	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:49986695G>A	uc003xqq.4	+	3	316	c.133_splice	c.e3+1	p.G45_splice		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	Homo sapiens chromosome 8 open reading frame 22 (C8orf22), mRNA.	45										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)				ACCACAGCAAGGTACTTAGTT	0.299000														44			7		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43609989	43609989	+	Silent	SNP	C	T	T	rs75225191		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:43609989C>T	uc001jal.3	+	10	2131	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	RET_uc001jak.1_Silent_p.I647I|RET_uc010qez.1_Silent_p.I393I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	647				I -> V (in Ref. 6; AAA36786).	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCTCCTTCATCGTCTCGGTGC	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					36			7		0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595347	167595347	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:167595347G>A	uc010kkp.3	+	7	1136	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	335										endometrium(1)|kidney(2)|lung(3)	6						CCGGTTTCCCGAGTGAATTTC	0.537000														37			8		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56345044	56345044	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56345044T>C	uc001niz.1	-	0	154	c.154A>G	c.(154-156)Aat>Gat	p.N52D	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGTTGGGAATTGGTCCTGATC	0.463000														69			18		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510835	119510835	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:119510835G>A	uc003pym.1	-	9	1982	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	514					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R514*(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCACATGTTCGATTATATGAT	0.453000														93			14		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125143694	125143694	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125143694C>T	uc004bmg.1	+	5	676	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	PTGS1_uc011lys.1_Silent_p.L156L|PTGS1_uc010mwb.1_Silent_p.L72L|PTGS1_uc004bmf.1_Silent_p.L181L|PTGS1_uc004bmh.1_Silent_p.L72L|PTGS1_uc011lyt.1_Silent_p.L72L	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	181					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CCGCCGCTTCCTGCTCAGGAG	0.547000														27			4		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138417781	138417781	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138417781G>A	uc003vuf.3	-	15	1987	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	ATP6V0A4_uc003vug.3_Silent_p.I583I|ATP6V0A4_uc003vuh.3_Silent_p.I583I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	583					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAGACACAGGATAAAAATCA	0.428000														46			30		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46712996	46712996	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:46712996G>A	uc003cqa.2	-	24	2956	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	ALS2CL_uc003cpx.2_Silent_p.F268F|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.F436F|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.F921F	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	921	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGTGAGCAGGAAGTCATACA	0.592000														29			9		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823557	38823557	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:38823557G>A	uc003avs.1	-	1	678	c.581C>T	c.(580-582)tCg>tTg	p.S194L	KCNJ4_uc003avt.1_Missense_Mutation_p.S194L|KCNJ4_uc021wpp.1_Missense_Mutation_p.S194L	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	194					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)					GTCGCGCACCGAAATGACCGC	0.632000														38			3		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211898	72211898	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:72211898G>A	uc003xyu.3	-	7	1254	c.614C>T	c.(613-615)tCc>tTc	p.S205F	EYA1_uc003xyt.4_Missense_Mutation_p.S172F|EYA1_uc003xyr.4_Missense_Mutation_p.S200F|EYA1_uc010lzf.3_Missense_Mutation_p.S132F|EYA1_uc003xys.4_Missense_Mutation_p.S205F|EYA1_uc011lfe.2_Missense_Mutation_p.S199F|EYA1_uc003xyv.3_Missense_Mutation_p.S83F	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	205					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAATCCAGAGGAATTTGTGAG	0.299000														79			8		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281957	125281957	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125281957G>A	uc011lyw.2	+	0	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179S(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTCTTCTGTGATCTTGTTGC	0.502000														28			11		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141636	114141636	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:114141636C>T	uc004epu.1	+	5	1763	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	HTR2C_uc010nqc.1_Silent_p.L345L|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	345					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCAAAAGCTCATGGAAAAGC	0.383000														86			29		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133844294	133844294	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:133844294A>T	uc011ecs.2	+	17	2051	c.1735A>T	c.(1735-1737)Att>Ttt	p.I579F	EYA4_uc011ecq.2_Missense_Mutation_p.I519F|EYA4_uc011ecr.2_Missense_Mutation_p.I525F|EYA4_uc003qec.4_Missense_Mutation_p.I573F|EYA4_uc003qed.4_Missense_Mutation_p.I573F|EYA4_uc003qee.4_Missense_Mutation_p.I550F|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	573					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATTGAGAATATTTACAGTGC	0.388000														70			13		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118530	4118530	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:4118530G>A	uc003zhx.1	-	3	1661	c.948C>T	c.(946-948)ttC>ttT	p.F316F	GLIS3_uc003zic.1_Silent_p.F316F|GLIS3_uc003zie.1_Silent_p.F316F|GLIS3_uc010mhh.1_Silent_p.F191F|GLIS3_uc003zid.1_Silent_p.F94F|GLIS3_uc010mhi.1_Silent_p.F123F|GLIS3_uc003zif.1_Silent_p.F94F|GLIS3_uc003zih.1_Silent_p.F94F|GLIS3_uc003zig.1_Silent_p.F160F|GLIS3_uc003zhw.1_Silent_p.F161F|GLIS3_uc003zhy.1_Silent_p.F94F|GLIS3_uc003zhz.1_Silent_p.F94F|GLIS3_uc003zib.1_Silent_p.F160F|GLIS3_uc010mhg.1_Silent_p.F94F	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	161					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)		TGATGGTATTGAAATCTATCC	0.637000														58			8		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114262971	114262971	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:114262971G>A	uc003ibe.4	+	32	4121	c.4021G>A	c.(4021-4023)Gaa>Aaa	p.E1341K	ANK2_uc003ibd.4_Missense_Mutation_p.E1332K|ANK2_uc003ibf.4_Missense_Mutation_p.E1341K|ANK2_uc011cgc.2_Missense_Mutation_p.E517K|ANK2_uc003ibg.4_Missense_Mutation_p.E336K|ANK2_uc003ibh.4_Missense_Mutation_p.E15K|ANK2_uc011cgb.1_Missense_Mutation_p.E1356K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1308					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)		TGACCCCATTGAAGCCAGGTT	0.423000														85			19		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738706	138738706	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:138738706C>T	uc003esy.1	-	0	1063	c.798G>A	c.(796-798)taG>taA	p.*266*		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	0										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGTGGGGGTCTATGCCTGGA	0.632000														51			5		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724071	7724071	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7724071C>T	uc001aoi.3	+	8	1671	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGACTGTTTCCTTAATAACC	0.607000			T	WWTR1	epitheliod hemangioendothelioma									139			10		0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220936323	220936323	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:220936323G>A	uc001hmq.3	+	3	879	c.681G>A	c.(679-681)atG>atA	p.M227I	MARC2_uc001hmr.3_Missense_Mutation_p.M227I|MARC2_uc009xdx.3_Missense_Mutation_p.M227I	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	227	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										ATACCAGGATGGAGAAGAAAA	0.498000														52			10		0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86697493	86697494	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86697493_86697494GG>AA	uc002sri.4	+	10	2013_2014	c.1686_1687GG>AA	c.(1684-1689)aaggac>aaAAac	p.D563N	KDM3A_uc010ytj.2_Missense_Mutation_p.D563N|KDM3A_uc010ytk.2_Missense_Mutation_p.D511N	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	563					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AGCAACAGAAGGACTCACCTGT	0.475000														40			10		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180916	142180916	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142180916G>A	uc011krz.2	-	0	84	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCACAGGAGAGACAAGGCTGC	0.577000														57			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225764	21225764	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21225764C>T	uc002red.3	-	28	12658	c.12530G>A	c.(12529-12531)cGa>cAa	p.R4177Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4177					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)	TTGAGTAACTCGTACCAAGCC	0.463000														52			14		0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452884	6452884	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6452884G>A	uc001mdg.2	-	8	1177	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	372					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCATGATATGGAGCCGAGAAG	0.582000														56			11		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420299	69420299	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69420299G>A	uc004dxx.1	+	3	559	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	154					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GAGAATATGTGATGTCAATGG	0.413000														35			4		0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2503215	2503215	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2503215C>T	uc002cqd.1	+	13	1580	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y	CCNF_uc002cqe.1_Missense_Mutation_p.H190Y	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	498					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TTCCAGCTTCCATGATGACGC	0.532000														59			12		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328315	48328315	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48328315C>T	uc010rhu.2	+	0	541	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181T(2)|p.P181L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGATGTTCATCCCCTGCTCAA	0.488000														51			13		0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4365621	4365621	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4365621G>A	uc002maj.3	-	4	388	c.188_splice	c.e4-1	p.A63_splice	SH3GL1_uc002mak.3_Splice_Site_p.A63_splice|SH3GL1_uc010xig.2_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	63	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TAGCCCGCGAGGCTGGGATAG	0.657000			T	MLL	AL									107			8		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414942	21414942	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:21414942C>T	uc001iqm.3	-	1	329	c.278G>A	c.(277-279)aGa>aAa	p.R93K	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	93										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GAAGCTGACTCTCCGCAGCCA	0.622000														55			12		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465062	5465062	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:5465062C>T	uc003jdm.4	+	12	5837	c.5615C>T	c.(5614-5616)cCa>cTa	p.P1872L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1872										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAAACCTCCCAGGGAACCTC	0.502000														18			8		0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137680718	137680718	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:137680718C>T	uc003lcv.3	+	3	811	c.341C>T	c.(340-342)tCc>tTc	p.S114F	FAM53C_uc003lcw.3_Missense_Mutation_p.S114F|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	114										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCCTCCATCCAAGAGGCAC	0.652000														74			10		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149041	242149041	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242149041C>T	uc002wax.2	+	12	1615	c.1512C>T	c.(1510-1512)atC>atT	p.I504I		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	504						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGTGGTGATCGTGGTGATGG	0.672000														49			5		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483635	59483636	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:59483635_59483636GG>AA	uc002lih.1	-	1	473_474	c.61_62CC>TT	c.(61-63)ccc>TTc	p.P21F	RNF152_uc021ula.1_Missense_Mutation_p.P21F	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	21					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)				CCTGCGCCGGGGGCTGTAGTAA	0.599000														83			18		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111361	55111361	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55111361G>A	uc010rie.2	+	0	685	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTACAGTCAGGAAGAGAGGCA	0.428000														70			5		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579641	58579641	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:58579641G>A	uc002qrg.3	+	3	1864	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	ZNF135_uc002qre.3_Missense_Mutation_p.E597K|ZNF135_uc002qrf.3_Missense_Mutation_p.E555K|ZNF135_uc010yhq.2_Missense_Mutation_p.E609K|ZNF135_uc010yhr.2_Missense_Mutation_p.E418K|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	609					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCCAGCACGAAAGGACGCA	0.552000														90			5		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5227087	5227087	+	RNA	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:5227087C>T	uc009xhz.2	-	0		c.64G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						ACCTGTCTTTCCTCCTTTTCC	0.512000														35			9		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944962	144944963	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144944962_144944963GG>AA	uc003zaa.1	-	0	2472_2473	c.2459_2460CC>TT	c.(2458-2460)tcc>tTT	p.S820F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	820						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)			CATACTTCACGGAGAGCAGCAG	0.649000														26			3		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71158482	71158482	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71158482C>T	uc001swi.2	-	2	848	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PTPRR_uc010stq.2_Missense_Mutation_p.G33E	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	145					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)		GGGTAAGAGTCCTAAAGCTGC	0.413000														53			5		0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74828607	74828607	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74828607G>A	uc021ptk.1	-	3	492	c.460C>T	c.(460-462)Cca>Tca	p.P154S	P4HA1_uc010qka.2_Missense_Mutation_p.P154S|P4HA1_uc001jth.3_Missense_Mutation_p.P154S|P4HA1_uc001jtg.3_Missense_Mutation_p.P154S|P4HA1_uc010qkb.2_Missense_Mutation_p.P154S|P4HA1_uc021ptj.1_Missense_Mutation_p.P154S	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	154						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATCTTACCTGGAAGATTACCC	0.378000														75			8		0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691205	31691205	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31691205C>T	uc011doc.2	+	0	85	c.45C>T	c.(43-45)gcC>gcT	p.A15A	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Silent_p.A15A|C6orf25_uc003nwk.3_Silent_p.A15A|C6orf25_uc011dod.2_Silent_p.A15A|C6orf25_uc003nwn.3_Silent_p.A15A|C6orf25_uc011doe.2_Silent_p.A15A|C6orf25_uc003nwo.3_Silent_p.A15A	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	15						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCTCGAGGGCCCAAGGGAACC	0.612000														23			6		0	0	1	0	0
IAPP	3375	broad.mit.edu	37	12	21531332	21531332	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21531332G>A	uc001rev.3	+	2	394	c.242G>A	c.(241-243)aGa>aAa	p.R81K	SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc001res.3_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	Homo sapiens islet amyloid polypeptide (IAPP), mRNA.	81					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	GTTTTAAAGAGAGAGCCACTG	0.378000														75			6		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121966960	121966960	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:121966960G>A	uc003idq.1	-	1	560	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	11								p.W10L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTGGAAACAGGAGCCACAGCA	0.502000														34			3		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190596	153190596	+	Silent	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:153190596G>A	uc011dcy.2	+	15	2589	c.2562G>A	c.(2560-2562)ttG>ttA	p.L854L	GRIA1_uc003lva.4_Silent_p.L844L|GRIA1_uc003luy.4_Silent_p.L844L|GRIA1_uc003luz.4_Silent_p.L749L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L764L|GRIA1_uc011dcx.2_Silent_p.L775L|GRIA1_uc011dcz.2_Silent_p.L854L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	844					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.L844L(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTTTTGTTTGATCCCACAGC	0.567000														53			12		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52535658	52535658	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52535658G>A	uc003dej.3	+	2	294	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	STAB1_uc003dei.1_Missense_Mutation_p.E74K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	74					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCCAGCTACGAAGTACAGCT	0.652000														4			3		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320567	69320567	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:69320567G>C	uc002ars.2	+	2	228	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.E45Q|NOX5_uc002arp.2_Missense_Mutation_p.E45Q|NOX5_uc010bid.2_Missense_Mutation_p.E56Q|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Missense_Mutation_p.E63Q	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	63	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.E63K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTTCTTTGCAGAGCGATTCTT	0.572000														176			5		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84269855	84269855	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84269855G>A	uc021zcf.1	-	26	2629	c.2599C>T	c.(2599-2601)Ccc>Tcc	p.P867S	SNAP91_uc011dzd.2_Missense_Mutation_p.P365S|SNAP91_uc003pka.3_Missense_Mutation_p.P865S|SNAP91_uc011dze.2_Missense_Mutation_p.P865S|SNAP91_uc003pkc.3_Missense_Mutation_p.P837S|SNAP91_uc003pkd.3_Missense_Mutation_p.P560S|SNAP91_uc003pkb.3_Missense_Mutation_p.P776S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	867	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCTCCAAAGGGGGGCCTCATC	0.517000														69			13		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54219310	54219310	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54219310G>A	uc003pcj.2	+	9	1273	c.1127_splice	c.e9-1	p.A376_splice	TINAG_uc010jzt.2_Splice_Site	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	376					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTATTTTAGCCATAATGCA	0.333000														52			16		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675517	176675517	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176675517G>A	uc001gkz.3	+	9	4552	c.3388G>A	c.(3388-3390)Gat>Aat	p.D1130N	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1130					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						AGAGTGTGATGATGGAGACCT	0.398000														40			7		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1414074	1414074	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:1414074C>T	uc003boz.3	+	12	1851	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	CNTN6_uc011asj.2_Silent_p.S456S|CNTN6_uc003bpa.3_Silent_p.S528S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	528	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATGACCCCTCCATTGAAGTGG	0.418000														41			8		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049357	70049357	+	Silent	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70049357C>T	uc010kak.3	+	24	3696	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	BAI3_uc003pev.4_Silent_p.G1140G|BAI3_uc011dxx.2_Silent_p.G346G	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1140					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATTGCAAGGCTTTGTTATAG	0.423000														115			23		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79611396	79611396	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:79611396G>A	uc001sys.3	+	4	768	c.97G>A	c.(97-99)Gga>Aga	p.G33R	SYT1_uc001syt.3_Missense_Mutation_p.G33R|SYT1_uc001syu.3_Missense_Mutation_p.G33R|SYT1_uc001syv.3_Missense_Mutation_p.G33R	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	33					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGCCAGTCCTGGAGAAGGAAA	0.468000														46			13		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545686	81545686	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81545686G>A	uc001szl.1	+	5	1076	c.985G>A	c.(985-987)Gga>Aga	p.G329R	ACSS3_uc001szm.1_Missense_Mutation_p.G328R|ACSS3_uc001szn.1_Missense_Mutation_p.G11R	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	329						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTCCATATACGGACTTCAACC	0.353000														63			6		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918095	26918095	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:26918095C>T	uc001wqa.3	-	5	1014	c.228G>A	c.(226-228)atG>atA	p.M76I	NOVA1_uc001wpy.3_Missense_Mutation_p.M198I|NOVA1_uc001wpz.3_Missense_Mutation_p.M174I	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	201	KH 1.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding	p.Q76L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTGACTGCTCCATTACAGCCT	0.448000														85			7		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848461	92848461	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92848461C>T	uc011khy.2	-	2	475	c.452G>A	c.(451-453)gGa>gAa	p.G151E	HEPACAM2_uc003uml.3_Missense_Mutation_p.G116E|HEPACAM2_uc010lff.3_Missense_Mutation_p.G116E|HEPACAM2_uc003umm.3_Missense_Mutation_p.G128E	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	128	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGTTCCATTTCCCTGAATGTT	0.478000														56			6		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:8716284_8716285delTC	uc001ape.3	-	2	882_883	c.72_73delGA	c.(70-75)gagaaafs	p.E24fs	RERE_uc001apf.3_Frame_Shift_Del_p.E24fs|RERE_uc001aph.1_Frame_Shift_Del_p.E24fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	24					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)		TTGTCTCTTTTCtctctctctc	0.505													---	272	---	---	8	---					
GBP3	2635	broad.mit.edu	37	1	89478895	89478895	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:89478895delA	uc001dmt.3	-	5	1046	c.841delT	c.(841-843)tcafs	p.S281fs	GBP3_uc010oss.2_Frame_Shift_Del_p.S202fs|GBP3_uc001dmu.3_Frame_Shift_Del_p.S147fs|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Frame_Shift_Del_p.S281fs	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	281						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATGCCTCCTGAAAGAGTTTTA	0.438													---	129	---	---	26	---					
FAM212B	55924	broad.mit.edu	37	1	112270123	112270123	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112270123delT	uc001ebo.2	-	1	543	c.361delA	c.(361-363)aggfs	p.R121fs	FAM212B_uc001ebp.2_Frame_Shift_Del_p.R106fs	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	Homo sapiens family with sequence similarity 212, member B (FAM212B), transcript variant 1, mRNA.	121										cervix(1)|endometrium(1)	2						GGCTGTGTCCTGGGCAAGGGG	0.597													---	74	---	---	22	---					
SEMA4C	54910	broad.mit.edu	37	2	97531235	97531235	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:97531235delC	uc002sxg.4	-	3	850	c.619delG	c.(619-621)gatfs	p.D207fs	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Frame_Shift_Del_p.D154fs	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	154	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CCCTTCCCATCTTCAAACTCT	0.572													---	58	---	---	13	---					
CDV3	55573	broad.mit.edu	37	3	133292940	133292942	+	In_Frame_Del	DEL	AAG	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:133292940_133292942delAAG	uc003epq.3	+	0	507_509	c.52_54delAAG	c.(52-54)aagdel	p.K22del	CDV3_uc003epp.4_In_Frame_Del_p.K22del|CDV3_uc003epr.3_5'Flank	NM_017548	NP_060018	Q9UKY7	CDV3_HUMAN	Homo sapiens CDV3 homolog (mouse) (CDV3), transcript variant 2, mRNA.	22	Poly-Lys.				cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						CAAGAGGGACAAGAAGAAGAAGA	0.744													---	4	---	---	3	---					
TFAP2A	7020	broad.mit.edu	37	6	10400698	10400699	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:10400698_10400699insT	uc003myr.3	-	5	1259_1260	c.1007_1008insA	c.(1006-1008)aacfs	p.N336fs	TFAP2A_uc003myq.3_Frame_Shift_Ins_p.N330fs|TFAP2A_uc003mys.3_Non-coding_Transcript|TFAP2A_uc011dih.2_Intron|TFAP2A_uc003myt.3_Frame_Shift_Ins_p.N332fs	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	336	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CCAGGAGCATGTTTTTTCTTGT	0.441													---	106	---	---	20	---					
HIBADH	11112	broad.mit.edu	37	7	27672031	27672032	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:27672031_27672032insT	uc003szf.3	-	2	498_499	c.285_286insA	c.(283-288)aaagctfs	p.K95fs	HIBADH_uc003szg.3_Frame_Shift_Ins_p.K46fs|HIBADH_uc003szi.3_Frame_Shift_Ins_p.K46fs	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	95					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ATTCTGTCAGCTTTTTCAGCAA	0.361													---	98	---	---	21	---					
ANLN	54443	broad.mit.edu	37	7	36436028	36436028	+	Splice_Site	DEL	G	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:36436028delG	uc003tff.3	+	2	376	c.172_splice	c.e2+1	p.E58_splice	ANLN_uc011kaz.2_Intron|ANLN_uc003tfg.3_Splice_Site_p.E58_splice|ANLN_uc010kxe.3_Splice_Site_p.E58_splice	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	58	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGGTGGTGAAGGTAAAAGACT	0.433													---	69	---	---	7	---					
OR8H3	390152	broad.mit.edu	37	11	55890533	55890533	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55890533delA	uc001nii.1	+	0	685	c.685delA	c.(685-687)aatfs	p.N229fs		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CCTGAAAATTAATTCCACTTC	0.403													---	68	---	---	11	---					
B3GAT1	27087	broad.mit.edu	37	11	134257463	134257464	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:134257463_134257464insT	uc001qhq.3	-	2	351_352	c.90_91insA	c.(88-93)gcacccfs	p.A30fs	B3GAT1_uc001qhr.3_Frame_Shift_Ins_p.A30fs|B3GAT1_uc010scv.1_Frame_Shift_Ins_p.A43fs	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	30					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCGAGCAGGGGTGCGAGGGTGC	0.619													---	42	---	---	10	---					
MYCBP2	23077	broad.mit.edu	37	13	77672094	77672094	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:77672094delA	uc021rks.1	-	55	9462	c.9195delT	c.(9193-9195)catfs	p.H3065fs	MYCBP2_uc010aev.3_Frame_Shift_Del_p.H2431fs|MYCBP2_uc001vkg.1_Frame_Shift_Del_p.H550fs|MYCBP2_uc010aew.3_Frame_Shift_Del_p.H413fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3027					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTATAGGAGCATGTTCTTTGG	0.368													---	65	---	---	12	---					
BRD7	29117	broad.mit.edu	37	16	50367574	50367574	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:50367574delT	uc021thx.1	-	7	1082	c.922delA	c.(922-924)agcfs	p.S308fs	BRD7_uc002ege.2_Frame_Shift_Del_p.S308fs	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	308					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AAATTATTGCTTTTAAACTTA	0.363													---	184	---	---	38	---					
ZNF276	92822	broad.mit.edu	37	16	89799752	89799752	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89799752delT	uc002fos.4	+	6	1309	c.1212delT	c.(1210-1212)tctfs	p.S404fs	ZNF276_uc010ciq.3_Frame_Shift_Del_p.S190fs|ZNF276_uc002foq.4_Frame_Shift_Del_p.S329fs|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Frame_Shift_Del_p.S190fs|ZNF276_uc010cis.3_Frame_Shift_Del_p.S163fs|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Frame_Shift_Del_p.S242fs|ZNF276_uc010cit.2_Frame_Shift_Del_p.S163fs	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCAAGAAGTCTGAAGAACCAA	0.473													---	137	---	---	12	---					
SPIRE2	84501	broad.mit.edu	37	16	89895030	89895030	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89895030delG	uc002foz.1	+	0	124	c.72delG	c.(70-72)ctgfs	p.L24fs	SPIRE2_uc010civ.1_5'UTR|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.L24fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	24	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGCTGTCCCTGGAGGAGGTGC	0.801											OREG0006581|OREG0006582	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=SPIRE2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	---	4	---	---	2	---					
PTPRS	5802	broad.mit.edu	37	19	5244193	5244193	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:5244193delG	uc002mbv.3	-	10	1523	c.1289delC	c.(1288-1290)ccgfs	p.P430fs	PTPRS_uc002mbu.1_Frame_Shift_Del_p.P417fs|PTPRS_uc010xin.2_Frame_Shift_Del_p.P417fs|PTPRS_uc002mbw.3_Frame_Shift_Del_p.P417fs|PTPRS_uc002mbx.3_Frame_Shift_Del_p.P421fs|PTPRS_uc002mby.3_Frame_Shift_Del_p.P417fs	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	430	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CACGTTCCGCGGCGCGCTGGC	0.701													---	82	---	---	14	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	-	-	rs62639328	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46299165_46299167delCCT	uc002pdm.3	-	5	2285_2287	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E441del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													---	178	---	---	8	---					
ESX1	80712	broad.mit.edu	37	X	103494988	103494988	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:103494988delA	uc004ely.3	-	3	1211	c.1142delT	c.(1141-1143)gtgfs	p.V381fs		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	381					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AGTGTGAGGCACATGTGACCT	0.612													---	39	---	---	13	---					
