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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DCN	1634	broad.mit.edu	37	12	91546948	91546948	+	Missense_Mutation	SNP	G	G	A	rs144174426		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:91546948G>A	uc001tbt.3	-	5	925	c.671C>T	c.(670-672)aCg>aTg	p.T224M	DCN_uc001tbo.3_Missense_Mutation_p.T115M|DCN_uc001tbp.3_Missense_Mutation_p.T77M|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.T224M	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	224					organ morphogenesis	extracellular space		p.T224M(2)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATGTAATTCCGTAAGGGAAGG	0.348000													7	122					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	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													3	67					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111416	55111416	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:55111416T>C	uc010rie.2	+	0	740	c.740T>C	c.(739-741)cTc>cCc	p.L247P		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	247					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						GTGGTTGCCCTCGTTTTTGTT	0.398000													16	41					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6670062	6670062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:6670062G>A	uc002mfk.2	-	1	401	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	TNFSF14_uc002mfj.2_Missense_Mutation_p.R7W	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	7					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						ACTGAGGGCCGTACGACACTC	0.602000													4	89					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197707307	197707307	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:197707307C>T	uc010iar.3	+	5	682	c.660C>T	c.(658-660)acC>acT	p.T220T	LMLN_uc003fyt.3_Silent_p.T168T|LMLN_uc011buo.2_Silent_p.T220T|LMLN_uc010ias.3_Silent_p.T168T|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	220					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	p.T220T(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTCTGGCCACCGAGAGATGCA	0.502000													5	203					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795580	17795580	+	Missense_Mutation	SNP	G	G	A	rs139383722		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:17795580G>A	uc003zna.3	+	8	1186	c.898G>A	c.(898-900)Gac>Aac	p.D300N	SH3GL2_uc011lmy.2_Missense_Mutation_p.D253N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	300	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding	p.D300N(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGCTCTGTACGACTTTGAACC	0.463000													25	36					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135730311	135730311	+	Splice_Site	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135730311G>A	uc004cbu.1	-	5	890	c.334_splice	c.e5-1	p.T112_splice	AK8_uc010mzx.1_Splice_Site|AK8_uc004cbv.1_Splice_Site	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	112						cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GCTGGGAACTGTCTGAAGGAA	0.567000													4	64					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193360822	193360822	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:193360822G>A	uc003ftg.3	+	12	1523	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y	OPA1_uc003fth.3_Missense_Mutation_p.C394Y|OPA1_uc003fti.3_Missense_Mutation_p.C412Y|OPA1_uc003ftj.3_Missense_Mutation_p.C393Y|OPA1_uc003ftk.3_Missense_Mutation_p.C376Y|OPA1_uc003ftl.3_Missense_Mutation_p.C357Y|OPA1_uc003ftm.3_Missense_Mutation_p.C375Y|OPA1_uc003ftn.3_Missense_Mutation_p.C339Y	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	375			Missing (in OPA1).|N -> D (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAGAAGGCTGTACCGTTAGC	0.323000													3	44					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111398886	111398886	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:111398886G>A	uc002tgc.3	-	21	2893	c.2781C>T	c.(2779-2781)aaC>aaT	p.N927N	BUB1_uc010yxh.2_Silent_p.N907N|BUB1_uc010fkb.3_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	927	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)		ACACTTGCCCGTTTCCAAGTA	0.383000													4	109					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679973	100679973	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:100679973C>T	uc003uxp.1	+	2	5329	c.5276C>T	c.(5275-5277)aCg>aTg	p.T1759M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1759	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)					GTCAGCACCACGCCGGTACTC	0.502000													223	351					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975227	32975227	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:32975227C>T	uc003ocr.3	-	2	550	c.474G>A	c.(472-474)gtG>gtA	p.V158V	HLA-DOA_uc010juj.3_Silent_p.V128V|HLA-DOA_uc010jui.3_Silent_p.V158V	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	158	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	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGGTCTGGGCCACTCCCTCAG	0.577000													91	186					0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141023973	141023973	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:141023973C>T	uc003llk.3	-	16	1726	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	FCHSD1_uc010jgg.3_Missense_Mutation_p.G242R|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	559	SH3 2.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTCTGTCCGGTGTAGCTG	0.622000													20	23					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118896039	118896039	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:118896039C>T	uc009xyx.3	-	1	618	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	VAX1_uc001ldb.1_Missense_Mutation_p.V125M	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 1, mRNA.	125						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGCCCACCACGTACTGGCAG	0.667000													16	41					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109669	98109669	+	Missense_Mutation	SNP	C	C	T	rs150899692		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:98109669C>T	uc011bgw.2	+	0	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	54					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						TATAGAGCAACGTCTTCACAC	0.413000													95	178					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30105555	30105555	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:30105555G>A	uc001wqh.3	-	6	1312	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	377					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)		CGCCACTGTCGTTCTGGCACT	0.542000													97	173					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29628283G>C	uc010ztl.1	+	2	227	c.195G>C	c.(193-195)ggG>ggC	p.G65G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.G95G(4)|p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													8	171					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47775993	47775993	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:47775993T>A	uc003ozc.3	+	4	888	c.860T>A	c.(859-861)cTc>cAc	p.L287H	OPN5_uc003ozd.3_Missense_Mutation_p.L122H	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	287					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.Q286L(2)|p.L287L(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCCATACAGCTCTCTGTGGTG	0.463000													63	112					0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	21001131	21001131	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:21001131C>G	uc002rec.3	-	1	126	c.93G>C	c.(91-93)tgG>tgC	p.W31C	C2orf43_uc010ykb.1_Intron|C2orf43_uc010ykc.1_Missense_Mutation_p.W31C|C2orf43_uc010ykd.1_Missense_Mutation_p.W31C|C2orf43_uc010ykf.1_Intron|C2orf43_uc021vem.1_Intron|C2orf43_uc010yke.1_Missense_Mutation_p.W31C|C2orf43_uc010yka.1_Missense_Mutation_p.W31C	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	Homo sapiens chromosome 2 open reading frame 43 (C2orf43), mRNA.	31										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGTCTGTCCAGGGCCCAC	0.423000													45	81					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150663635	150663635	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:150663635G>A	uc003ltx.2	-	8	1486	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	SLC36A3_uc003ltv.2_Missense_Mutation_p.A300V|SLC36A3_uc003ltw.2_Missense_Mutation_p.A315V	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	315						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGATGCTGGCCTGGGTGTC	0.498000													5	160					0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117900529	117900529	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:117900529A>G	uc004eqs.3	+	6	908	c.865A>G	c.(865-867)Aga>Gga	p.R289G		NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	289						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAATTTGAGAGAAATGTGGA	0.338000													5	55					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135298930	135298930	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:135298930C>T	uc003vsw.3	+	22	3250	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1073					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						TATGTGCATGCTCTGATACAT	0.358000													4	87					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022537	51022537	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:51022537G>A	uc002pss.3	-	2	570	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	145						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)		GTGGTCAGCCGGTTGTCAAAA	0.622000													46	25					0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539307	62539307	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:62539307T>A	uc002ajj.1	-	4	373	c.365A>T	c.(364-366)cAc>cTc	p.H122L	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ572791_uc002ajt.3_5'Flank|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		CCTCAACGTGTGCACCTGCCC	0.607000													3	30					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48426631	48426631	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:48426631T>C	uc001jfb.3	-	2	1804	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	GDF10_uc009xnp.3_Missense_Mutation_p.N458S	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	459					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.E458D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACATTCCGATTCTCATCCAG	0.582000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	203					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411941	48411941	+	Silent	SNP	A	A	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:48411941A>T	uc003toq.2	+	32	11004	c.10980A>T	c.(10978-10980)tcA>tcT	p.S3660S	ABCA13_uc010kys.1_Silent_p.S734S|ABCA13_uc003tos.1_Silent_p.S486S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3660					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						TTGGGATGTCAGTCGTCATGC	0.458000													6	266					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144696860	144696860	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr8:144696860T>C	uc003yza.2	-	4	434	c.398A>G	c.(397-399)aAt>aGt	p.N133S	TSTA3_uc003yzb.2_Missense_Mutation_p.N133S|TSTA3_uc011lko.1_Missense_Mutation_p.M163V	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	133					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GGGAGGCCCATTGTGGATCTG	0.662000													3	128					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116175	175116175	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:175116175C>T	uc001gkl.1	+	18	3981	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1290					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)		CAGAAAGAAGCGGACGCTGAG	0.592000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	24					0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848207	29848207	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:29848207T>C	uc002kxl.3	-	5	2314	c.2258A>G	c.(2257-2259)gAa>gGa	p.E753G	FAM59A_uc002kxk.2_Missense_Mutation_p.E752G	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	753										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CTTGGGGTCTTCCTCAGCACC	0.522000													38	48					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109382889	109382889	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:109382889A>G	uc002tem.4	+	19	6020	c.5894A>G	c.(5893-5895)gAc>gGc	p.D1965G		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1965					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						GGCAAAAAAGACCCCAATTTC	0.388000													13	295					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3135615	3135615	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:3135615G>A	uc002klp.3	-	14	2473	c.2139C>T	c.(2137-2139)cgC>cgT	p.R713R	MYOM1_uc002klq.3_Silent_p.R713R	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	713	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATTAGAACAGCGGACACGGA	0.512000													3	52					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432192	228432192	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:228432192C>A	uc009xez.1	+	10	3445	c.3401C>A	c.(3400-3402)cCa>cAa	p.P1134Q	OBSCN_uc001hsn.3_Missense_Mutation_p.P1134Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1134	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)				CTGGTGCTGCCACAGGCGGGC	0.587000													8	80					1.08611e-07	1.13662e-07	1	1	0
MYO1H	283446	broad.mit.edu	37	12	109835562	109835562	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:109835562G>A	uc010sxn.1	+	3	467	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity	p.L155L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGAACGCTCCGGAATGACAAC	0.408000													3	40					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919576	66919576	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:66919576C>T	uc021tjw.1	+	0	1389	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	PDP2_uc002eqk.2_Silent_p.L463L	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	463					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCAGCGGGCTCCACGAGGCTG	0.617000													9	10					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277148	95277148	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:95277148C>A	uc011lty.2	-	3	1006	c.819G>T	c.(817-819)gaG>gaT	p.E273D	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.E251D|ECM2_uc004asg.3_Missense_Mutation_p.E251D	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cctcctcatcctcctcctcct	0.607000													4	118					0.00024832	0.000256883	1	1	0
CNTN3	5067	broad.mit.edu	37	3	74383984	74383984	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:74383984G>T	uc003dpm.1	-	11	1650	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	524	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V523V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTCATGTTGTACCTGGCAG	0.418000													37	61					1.15183e-24	1.23411e-24	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								48	70					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73942823	73942823	+	Splice_Site	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:73942823T>C	uc003hgp.3	-	33	7705	c.7588_splice	c.e33-1	p.G2530_splice	ANKRD17_uc003hgo.3_Splice_Site_p.G2417_splice|ANKRD17_uc003hgq.3_Splice_Site_p.G2279_splice|ANKRD17_uc003hgr.3_Splice_Site_p.G2529_splice	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2530					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCATACCCTTAAAAAAGGA	0.388000													5	29					0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:74212378T>C	uc003ubd.1	-	15	1657	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_uc010lbt.1_Silent_p.K38K	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468000													3	106					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231500	6231500	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:6231500G>C	uc001mcj.3	+	1	541	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	165										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTACCAGGTCTTCTCTTG	0.587000													11	156					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18646678	18646678	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:18646678C>A	uc004cym.3	+	17	2937	c.2684C>A	c.(2683-2685)cCg>cAg	p.P895Q	CDKL5_uc004cyn.3_Missense_Mutation_p.P895Q|CDKL5_uc022btn.1_Missense_Mutation_p.P886Q	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	895					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			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)					GAACCCGCACCGAAGGGCAGG	0.577000													3	64					1	1	1	1	0
DEFB119	245932	broad.mit.edu	37	20	29976970	29976970	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29976970C>T	uc002wvu.1	-	1	245	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	48					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)			ATTTCGGCAGCGTATGATGCT	0.453000													13	177					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4797498	4797498	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:4797498T>C	uc010vsl.2	+	22	2944	c.2700T>C	c.(2698-2700)caT>caC	p.H900H	MINK1_uc010vsk.2_Silent_p.H871H|MINK1_uc010vsm.2_Silent_p.H880H|MINK1_uc010vsn.2_Silent_p.H863H|MINK1_uc010vso.2_Silent_p.H808H|MINK1_uc010vsp.2_Silent_p.H361H	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	900	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCTGCTGCATGCTGACAGCA	0.622000													40	99					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54974333	54974333	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:54974333A>G	uc002xxl.1	+	4	1156	c.956A>G	c.(955-957)aAa>aGa	p.K319R	CSTF1_uc002xxm.1_Missense_Mutation_p.K319R|CSTF1_uc002xxn.1_Missense_Mutation_p.K319R	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	319					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAAAATTCTAAATACATTCTC	0.388000													6	84					0	0	1	0	0
UEVLD	55293	broad.mit.edu	37	11	18568522	18568522	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:18568522T>A	uc001mot.3	-	7	871	c.791A>T	c.(790-792)gAt>gTt	p.D264V	UEVLD_uc001mou.3_Missense_Mutation_p.D264V|UEVLD_uc010rde.2_Missense_Mutation_p.D134V|UEVLD_uc010rdf.2_Missense_Mutation_p.D242V|UEVLD_uc010rdg.2_Missense_Mutation_p.D134V|UEVLD_uc001mov.3_Missense_Mutation_p.D242V	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	264					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTGTACCACATCAAGGTACGA	0.458000													10	99					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81161555	81161555	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:81161555G>T	uc002fgh.1	-	36	6157	c.6157C>A	c.(6157-6159)Cgt>Agt	p.R2053S	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2054					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TATGGTGCACGGCATCCGTTG	0.567000													3	44					0.00909568	0.0093024	1	1	0
ZNF238	10472	broad.mit.edu	37	1	244218515	244218515	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:244218515G>A	uc001iad.4	+	1	1612	c.1439G>A	c.(1438-1440)tGc>tAc	p.C480Y	ZNF238_uc001iae.3_Missense_Mutation_p.C471Y|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	471					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)			TGCAAGTGGTGCGAGCGCAGG	0.597000													28	50					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14498282	14498282	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:14498282G>A	uc003jff.3	+	51	8138	c.8132G>A	c.(8131-8133)cGc>cAc	p.R2711H	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2711	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCTGTGGCCGCCCCAAAGCC	0.542000													3	74					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724727	38724727	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:38724727G>A	uc001wum.1	-	0	848	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	167	C-type lectin.					integral to membrane	sugar binding	p.N167N(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682000													4	74					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135787392	135787392	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:135787392G>A	uc003qgi.3	-	6	693	c.309C>T	c.(307-309)aaC>aaT	p.N103N	AHI1_uc003qgh.3_Silent_p.N103N|AHI1_uc003qgj.3_Silent_p.N103N|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Silent_p.N103N	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	103						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAACTGTGTGTTCCTCAATT	0.393000													85	95					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904204	21904204	+	RNA	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:21904204G>T	uc002gza.2	+	0		c.143G>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgccaggacggtgttcgggt	0.677000													6	154					5.4927e-09	5.8158e-09	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430688	37430688	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:37430688C>T	uc021ppc.1	+	6	794	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ANKRD30A_uc001iza.1_Missense_Mutation_p.A232V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232V(2)|p.A232A(1)		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						GCACCCTTGGCGGAAAGAACA	0.483000													5	68					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57512602	57512602	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:57512602T>C	uc003pdx.3	+	14	1514	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	477					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)		AAACCAAGTGTCCAGAAAACC	0.398000													45	403					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:23544867T>C	uc002nre.3	-	3	1027	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_uc010xrj.2_Missense_Mutation_p.H273R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													4	112					0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129120596	129120596	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:129120596G>A	uc003emg.3	-	8	1722	c.1559C>T	c.(1558-1560)aCt>aTt	p.T520I	RPL32P3_uc003ema.3_5'Flank|RPL32P3_uc003emb.3_5'Flank|RPL32P3_uc003emd.1_5'Flank	NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						TGTGGCCACAGTGGGCAGGTA	0.587000													5	7					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7211105	7211105	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:7211105G>A	uc003mxb.3	+	6	986	c.494G>A	c.(493-495)cGt>cAt	p.R165H	RREB1_uc021yky.1_Missense_Mutation_p.R165H|RREB1_uc010jnw.3_Missense_Mutation_p.R165H|RREB1_uc003mxc.3_Missense_Mutation_p.R165H|RREB1_uc010jnx.3_Missense_Mutation_p.R165H|RREB1_uc003mxd.3_Missense_Mutation_p.R165H|RREB1_uc021ykz.1_Missense_Mutation_p.R165H|RREB1_uc021yla.1_Missense_Mutation_p.R165H	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	165					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTCTGAAACGTAGGCGATTG	0.502000													5	190					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47933628	47933628	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:47933628C>G	uc003tny.2	-	14	2334	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	767	REJ.				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						ACAGTAGTTGCTGTACACCAC	0.572000													33	68					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111729277	111729277	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:111729277C>T	uc001tsa.2	+	4	511	c.357C>T	c.(355-357)ccC>ccT	p.P119P	CUX2_uc001tsb.2_Silent_p.P174P	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCAGCCCCCCAGCTTTGACC	0.617000													8	108					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169835095	169835095	+	Silent	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:169835095A>G	uc003fgl.2	-	9	2146	c.2112T>C	c.(2110-2112)ccT>ccC	p.P704P	PHC3_uc010hws.1_Silent_p.P692P|PHC3_uc011bpq.1_Silent_p.P651P	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	692					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TAGCCTGTGGAGGTTTGTTCT	0.433000													6	65					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293274	145293274	+	Splice_Site	SNP	T	T	G	rs4525095	by1000genomes	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:145293274T>G	uc021ouk.1	+	5	1163	c.-35_splice	c.e5+2		NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Intron|NBPF10_uc021oul.1_5'Flank|NBPF10_uc001emq.1_5'UTR	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.											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)		CAACAGTAAGTTAAGAATTTC	0.428000													5	40					0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539305	62539305	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:62539305T>C	uc002ajj.1	-	4	375	c.367A>G	c.(367-369)Acg>Gcg	p.T123A	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ575559_uc010uhp.1_Splice_Site|DQ572791_uc002ajt.3_5'Flank|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		TCCCTCAACGTGTGCACCTGC	0.607000													4	31					0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539227	62539227	+	Splice_Site	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:62539227C>T	uc002ajj.1	-	5	452	c.444_splice	c.e5+1	p.Q148_splice	FLJ38723_uc002ain.1_Splice_Site|DQ575559_uc010uhp.1_5'Flank|DQ572791_uc002ajt.3_5'Flank|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		AGCTTACCCACCTGGTTCCTT	0.577000													7	48					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73541990	73541990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:73541990C>T	uc002avm.4	+	10	2014	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	NEO1_uc010ukx.2_Nonsense_Mutation_p.R608*|NEO1_uc010uky.2_Nonsense_Mutation_p.R608*|NEO1_uc002avn.4_Nonsense_Mutation_p.R628*|NEO1_uc010ukz.2_Nonsense_Mutation_p.R32*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	608	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTATAGTTTCCGAGTGGTGGC	0.378000													4	117					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135979652	135979652	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135979652T>C	uc004cco.3	-	9	1689	c.1669A>G	c.(1669-1671)Acg>Gcg	p.T557A	RALGDS_uc004ccn.3_5'Flank|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.T545A|RALGDS_uc004ccr.3_Missense_Mutation_p.T556A|RALGDS_uc011mcv.2_Missense_Mutation_p.T528A|RALGDS_uc004ccs.3_Missense_Mutation_p.T502A|RALGDS_uc011mcw.2_Missense_Mutation_p.T628A|RALGDS_uc004ccv.1_Missense_Mutation_p.T326A|RALGDS_uc004ccu.1_Missense_Mutation_p.T326A	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	557	Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCTCACCGTCTCCTTCGGC	0.657000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								28	33					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125277	226125277	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:226125277G>T	uc001hpt.2	-	3	1208	c.965C>A	c.(964-966)gCc>gAc	p.A322D	LEFTY2_uc010pvk.2_Missense_Mutation_p.A288D|LEFTY2_uc009xek.2_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	322					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)					GGGCAGCGAGGCAGTCTCCGA	0.647000													3	48					1	1	1	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	C	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrGL000205.1:117582C>G	uc002kgk.4	+	0		c.960C>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000													4	14					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050151	42050151	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:42050151C>T	uc001cgz.4	-	3	1531	c.318G>A	c.(316-318)tcG>tcA	p.S106S	HIVEP3_uc001cha.4_Silent_p.S106S|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.	106					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)				GTTTGCCAGGCGACATGAATG	0.617000													98	42					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3225848	3225848	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:3225848G>A	uc021xkv.1	+	55	7900	c.7755G>A	c.(7753-7755)ccG>ccA	p.P2585P		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2585					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTGTCTCCGGCTACTACAG	0.512000													12	266					0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537080	140537080	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:140537080G>T	uc003lis.3	+	0	1501	c.1501G>T	c.(1501-1503)Gcc>Tcc	p.A501S						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		CCTGCCCCTCGCCTCCCTGGT	0.652000													99	172					3.98107e-36	4.31682e-36	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	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.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	68					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926215	1926215	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:1926215C>T	uc002qxe.3	-	9	2153	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	MYT1L_uc002qxd.3_Silent_p.T442T|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	442					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T442M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTGCTCTTTCCGTTTCCAAAG	0.547000													66	98					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201042735	201042735	+	Missense_Mutation	SNP	G	G	A	rs147112322		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:201042735G>A	uc001gvv.3	-	14	2326	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	700					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)	CTTGGCCATCGTTGACTTCTC	0.542000													52	515					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50667030	50667030	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:50667030T>C	uc001jhs.4	-	20	4467	c.4313A>G	c.(4312-4314)cAg>cGg	p.Q1438R	ERCC6_uc009xod.3_Missense_Mutation_p.Q598R|ERCC6_uc010qgr.2_Missense_Mutation_p.Q808R|ERCC6_uc001jhr.4_Missense_Mutation_p.Q806R	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1438					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGTGGGCCTGGAAAGCGAT	0.517000								Direct reversal of damage;Nucleotide excision repair (NER)					3	118					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064875	63064875	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:63064875C>T	uc009yor.3	+	2	815	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	203						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						CTGTGTACTACGCTTCTTGGC	0.408000													4	130					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24442317	24442317	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:24442317G>A	uc002kwa.3	-	1	339	c.276C>T	c.(274-276)agC>agT	p.S92S	CHST9-AS1_uc002kwb.2_5'Flank|CHST9-AS1_uc010xbm.2_5'Flank|AQP4_uc002kvz.3_Silent_p.S70S	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	92					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGTGGCCACCGCTGATATGGC	0.557000													5	130					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32589897	32589897	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:32589897T>C	uc002yow.1	-	9	2586	c.2114A>G	c.(2113-2115)aAg>aGg	p.K705R	TIAM1_uc011adk.1_Missense_Mutation_p.K705R|TIAM1_uc011adl.1_Missense_Mutation_p.K705R|TIAM1_uc002yox.1_Missense_Mutation_p.K313R	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	705					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCTGCTTCTTTTTGGAGGT	0.522000													84	91					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580213	37580213	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:37580213A>C	uc002xjg.3	+	3	939	c.898A>C	c.(898-900)Agt>Cgt	p.S300R		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	270					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTAAACAGCAGTAACTTGGT	0.428000													4	75					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5081777	5081777	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:5081777T>C	uc002cyg.3	-	2	678	c.651A>G	c.(649-651)caA>caG	p.Q217Q	ALG1_uc002cyj.3_5'Flank|NAGPA_uc010buc.3_5'Flank|NAGPA_uc002cyh.3_Non-coding_Transcript|NAGPA_uc010uxx.2_3'UTR|ALG1_uc021tco.1_5'Flank	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	217					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			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACTCTGTGGCTTGGCTCTCGT	0.572000													147	222					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032410	46032410	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:46032410C>T	uc002zfo.1	+	0	415	c.393C>T	c.(391-393)ccC>ccT	p.P131P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	131	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCAAGCCCGTGTGCTGCG	0.632000													6	272					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80751897	80751897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:80751897delA	uc003pjc.3	+	21	2663	c.2552delA	c.(2551-2553)gaafs	p.E851fs	TTK_uc003pjb.4_Frame_Shift_Del_p.E850fs	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAGACTTTTGAAAAAAAAAGG	0.299													7	114	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87968456	87968457	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:87968456_87968457delAG	uc003plm.4	+	7	5150_5151	c.5109_5110delAG	c.(5107-5112)aaagagfs	p.K1703fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTGATGTAAAAGAGAATTTCAA	0.327													12	31	---	---	---	---					
C6orf58	352999	broad.mit.edu	37	6	127911321	127911321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:127911321delC	uc003qbh.3	+	4	776	c.764delC	c.(763-765)accfs	p.T255fs		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	255						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTCCTACAACCTTGATTAGA	0.388													7	190	---	---	---	---					
OR2A14	135941	broad.mit.edu	37	7	143826799	143826799	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:143826799delC	uc011kua.2	+	0	594	c.594delC	c.(592-594)atcfs	p.I198fs		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGGTGGTCATCTTTGCAGCCT	0.577													184	245	---	---	---	---					
GOT1L1	137362	broad.mit.edu	37	8	37791833	37791834	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr8:37791833_37791834insT	uc011lbj.1	-	8	1343_1344	c.1243_1244insA	c.(1243-1245)acafs	p.T415fs		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	415					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCAATCAGTGTTTTTTTTTCC	0.371													8	94	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													5	3	---	---	---	---					
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:85682290delC	uc002fix.3	+	2	433	c.359delC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Del_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Del_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GTGCCCAGCACCCCCCCCGTG	0.687													9	213	---	---	---	---					
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								118	248	---	---	---	---					
