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
FLG	2312	broad.mit.edu	37	1	152281224	152281224	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:152281224G>A	ENST00000368799.1	-	3	6173	c.6138C>T	c.(6136-6138)gaC>gaT	p.D2046D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2046	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)			GTCCCTCACTGTCACTGGCCT	0.562000									Ichthyosis				21	833					0	0	0.624587	0	0
TMIGD1	388364	broad.mit.edu	37	17	28645840	28645840	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:28645840C>T	ENST00000328886.4	-	5	804	c.732G>A	c.(730-732)aaG>aaA	p.K244K	TMIGD1_ENST00000538566.2_Intron	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	244						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TCATTATTTTCTTTCTTCTAG	0.353000													28	104					0	0	0.681144	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101606380	101606380	+	Silent	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:101606380T>A	ENST00000310954.6	-	3	1036	c.750A>T	c.(748-750)ggA>ggT	p.G250G		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	250					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAAAGGCTGTTCCCAGAGTAT	0.388000													9	104					0	0	0.361761	0	0
EPS8L2	64787	broad.mit.edu	37	11	720157	720157	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:720157C>G	ENST00000533256.1	+	6	636	c.261C>G	c.(259-261)atC>atG	p.I87M	EPS8L2_ENST00000318562.8_Missense_Mutation_p.I87M|EPS8L2_ENST00000526198.1_Missense_Mutation_p.I87M|EPS8L2_ENST00000530636.1_Missense_Mutation_p.I87M|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	87	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGAAGATCTGGACCCAGG	0.627000													9	38					0	0	0.307466	0	0
MAP3K1	4214	broad.mit.edu	37	5	56170929	56170929	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:56170929G>A	ENST00000399503.3	+	10	1757	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	586					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCCTCAGGCGTCTTTCCCAT	0.527000													48	277					0	0	0.870114	0	0
CTH	1491	broad.mit.edu	37	1	70881666	70881666	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:70881666C>G	ENST00000411986.2	+	2	394	c.196C>G	c.(196-198)Ccc>Gcc	p.P66A	CTH_ENST00000346806.2_Missense_Mutation_p.P66A|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000370938.3_Missense_Mutation_p.P66A	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	66					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTCTGGAAATCCCACTAGGAA	0.358000													15	95					0	0	0.520397	0	0
MC2R	4158	broad.mit.edu	37	18	13885247	13885247	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr18:13885247A>T	ENST00000327606.3	-	2	451	c.271T>A	c.(271-273)Tat>Aat	p.Y91N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	91					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGCTTGAGATAGCCCATGTTT	0.458000													20	105					0	0	0.575678	0	0
CDH15	1013	broad.mit.edu	37	16	89254553	89254553	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:89254553C>T	ENST00000289746.2	+	7	903	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	280	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGATGTGGGACGCCTGGAAGT	0.647000													4	40					0	0	0.184627	0	0
FAT2	2196	broad.mit.edu	37	5	150925174	150925174	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:150925174G>T	ENST00000261800.5	-	9	5526	c.5514C>A	c.(5512-5514)ttC>ttA	p.F1838L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1838	Cadherin 16.				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)			CATAGACACAGAATTGGAAAG	0.463000													27	135					1.39806e-14	1.65139e-14	0.729181	1	0
RBM44	375316	broad.mit.edu	37	2	238726675	238726675	+	Silent	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:238726675C>G	ENST00000316997.4	+	3	1248	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	RBM44_ENST00000409864.1_Silent_p.L372L|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	371							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGACATTACTCCAACCCTGTA	0.353000													34	110					0	0	0.750413	0	0
SDK1	221935	broad.mit.edu	37	7	4051785	4051785	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:4051785C>T	ENST00000404826.2	+	16	2477	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	SDK1_ENST00000389531.3_Missense_Mutation_p.R780W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	780	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCAGTGGGCGGACTAATCA	0.512000													6	318					0	0	0.217242	0	0
PPFIA2	8499	broad.mit.edu	37	12	81693145	81693145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:81693145C>A	ENST00000550584.2	-	22	2954	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*	PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.E104*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E734*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E813*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.E454*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E788*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E887*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E872*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E872*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E887*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E887*|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	813										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						CTCCGAGCTTCTTCAAGAAGT	0.383000													3	13					0.004672	0.00480861	0.115264	1	0
DAGLA	747	broad.mit.edu	37	11	61503242	61503242	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:61503242A>T	ENST00000257215.5	+	12	1360	c.1244A>T	c.(1243-1245)gAg>gTg	p.E415V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	415					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTGATGCTGAGCGCCTCCCC	0.672000													6	13					0	0	0.217242	0	0
WLS	79971	broad.mit.edu	37	1	68613869	68613869	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:68613869T>G	ENST00000262348.4	-	8	1337	c.1084A>C	c.(1084-1086)Acg>Ccg	p.T362P	WLS_ENST00000370976.3_Missense_Mutation_p.T271P|WLS_ENST00000354777.2_Missense_Mutation_p.T360P|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.T362P	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	362					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAGGGATTCGTGAGTTGTACC	0.443000													21	183					0	0	0.608945	0	0
FLG	2312	broad.mit.edu	37	1	152281203	152281203	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:152281203G>C	ENST00000368799.1	-	3	6194	c.6159C>G	c.(6157-6159)gaC>gaG	p.D2053E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2053	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)			GTGTGTCTGAGTCTTCTGAAT	0.562000									Ichthyosis				17	798					0	0	0.520397	0	0
CRYGS	1427	broad.mit.edu	37	3	186257359	186257359	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:186257359G>C	ENST00000392499.2	-	3	388	c.49C>G	c.(49-51)Caa>Gaa	p.Q17E	CRYGS_ENST00000307944.5_Missense_Mutation_p.Q17E	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	17	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CGACGGCCTTGAAAATTTTTG	0.433000													23	99					0	0	0.639603	0	0
ADAM8	101	broad.mit.edu	37	10	135083954	135083954	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:135083954G>C	ENST00000445355.3	-	16	1745	c.1695C>G	c.(1693-1695)atC>atG	p.I565M	ADAM8_ENST00000415217.3_Missense_Mutation_p.I565M|ADAM8_ENST00000485491.2_Missense_Mutation_p.I526M	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	526					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCACGATGCAGATGGCACGCC	0.652000													19	65					0	0	0.608945	0	0
OR4N2	390429	broad.mit.edu	37	14	20296147	20296147	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:20296147T>A	ENST00000315947.1	+	1	540	c.540T>A	c.(538-540)gaT>gaA	p.D180E	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	180					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)		TCTTCTGTGATGTCCCACAGG	0.542000													84	135					0	0	0.870114	0	0
EPDR1	54749	broad.mit.edu	37	7	37989814	37989814	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:37989814T>A	ENST00000199448.4	+	3	870	c.491T>A	c.(490-492)aTt>aAt	p.I164N	EPDR1_ENST00000425345.1_Missense_Mutation_p.I103N|EPDR1_ENST00000559325.1_Missense_Mutation_p.I284N|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000476620.1_Missense_Mutation_p.I62N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	164					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GAAACCTGGATTGGCATCTAT	0.358000													11	109					0	0	0.387290	0	0
FAM227B	196951	broad.mit.edu	37	15	49882141	49882141	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr15:49882141T>C	ENST00000299338.6	-	4	472	c.169A>G	c.(169-171)Ata>Gta	p.I57V	FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000560246.1_Missense_Mutation_p.I57V|FAM227B_ENST00000558594.1_Missense_Mutation_p.I57V|FAM227B_ENST00000561064.1_Missense_Mutation_p.I57V	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TCTTCTTTTATTTTTTTCAGA	0.318000													26	129					0	0	0.729181	0	0
CACNA1B	774	broad.mit.edu	37	9	140919617	140919617	+	Silent	SNP	C	C	T	rs147270326	by1000genomes	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:140919617C>T	ENST00000277549.5	+	20	3424	c.855C>T	c.(853-855)gtC>gtT	p.V285V	CACNA1B_ENST00000371357.1_Silent_p.V1094V|CACNA1B_ENST00000371372.1_Silent_p.V1093V|CACNA1B_ENST00000277551.2_Silent_p.V1093V|CACNA1B_ENST00000545473.1_Silent_p.V77V|CACNA1B_ENST00000371363.1_Silent_p.V1093V|CACNA1B_ENST00000371367.5_Silent_p.V77V|CACNA1B_ENST00000371355.4_Silent_p.V1094V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1093					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGCCACGGTCGTTCCCAGTG	0.617000													28	13					0	0	0.706142	0	0
CYP46A1	10858	broad.mit.edu	37	14	100187605	100187605	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:100187605G>A	ENST00000554176.1	+	6	1217	c.551G>A	c.(550-552)gGt>gAt	p.G184D	CYP46A1_ENST00000423126.2_Missense_Mutation_p.G240D|CYP46A1_ENST00000261835.3_Missense_Mutation_p.G337D			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	337					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAGGTCATTGGTTCTAAGAGG	0.547000													16	75					0	0	0.557998	0	0
RALGAPB	57148	broad.mit.edu	37	20	37144953	37144953	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:37144953C>T	ENST00000262879.6	+	7	1275	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	RALGAPB_ENST00000397040.1_Silent_p.L331L|RALGAPB_ENST00000397042.3_Silent_p.L331L|RALGAPB_ENST00000537204.1_Silent_p.L331L|RALGAPB_ENST00000397038.1_Silent_p.L109L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	331					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTTAAACATCTGCCTCAAAT	0.413000													54	419					0	0	0.870114	0	0
CRMP1	1400	broad.mit.edu	37	4	5862807	5862807	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:5862807C>G	ENST00000324989.7	-	3	689	c.601G>C	c.(601-603)Gat>Cat	p.D201H	CRMP1_ENST00000397890.2_Missense_Mutation_p.D87H|CRMP1_ENST00000512574.1_Missense_Mutation_p.D85H|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	87					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AAGAAGTCATCAGCCGCAGTC	0.572000													30	68					0	0	0.729181	0	0
KLHL6	89857	broad.mit.edu	37	3	183210339	183210339	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:183210339G>A	ENST00000341319.3	-	6	1542	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	503										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCCTCCACGGGCATGGCCGCC	0.517000													4	146					0	0	0.150653	0	0
ASB9	140462	broad.mit.edu	37	X	15268558	15268558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:15268558C>A	ENST00000546332.1	-	6	1045	c.562G>T	c.(562-564)Gag>Tag	p.E188*	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Nonsense_Mutation_p.E188*|ASB9_ENST00000380488.4_Nonsense_Mutation_p.E188*|ASB9_ENST00000380483.3_Nonsense_Mutation_p.E178*	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	188					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TTACCTGACTCCAGAAGCTTC	0.393000													37	56					4.14481e-20	4.96249e-20	0.819951	1	0
FAM120B	84498	broad.mit.edu	37	6	170626814	170626814	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:170626814A>G	ENST00000476287.1	+	2	444	c.336A>G	c.(334-336)atA>atG	p.I112M	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.I124M|FAM120B_ENST00000537664.1_Missense_Mutation_p.I135M	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	112					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ACAGGGAGATATCCAGGATTT	0.453000													40	114					0	0	0.812448	0	0
TRPC4	7223	broad.mit.edu	37	13	38320380	38320380	+	Silent	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:38320380G>C	ENST00000379705.3	-	3	1448	c.591C>G	c.(589-591)ctC>ctG	p.L197L	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Silent_p.L197L|TRPC4_ENST00000379673.2_Silent_p.L197L|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Silent_p.L197L|TRPC4_ENST00000426868.2_Silent_p.L197L|TRPC4_ENST00000358477.2_Silent_p.L197L|TRPC4_ENST00000447043.1_Silent_p.L197L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	197					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)		TGTAGATGTTGAGTCTGGAGC	0.527000													26	76					0	0	0.681144	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726458	25726458	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:25726458C>T	ENST00000297012.3	-	1	332	c.298G>A	c.(298-300)Ggc>Agc	p.G100S		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	100					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATGGTCACGCCGCCCAAAAGC	0.532000													123	207					0	0	0.870114	0	0
RUNX1	861	broad.mit.edu	37	21	36206846	36206846	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr21:36206846G>A	ENST00000344691.4	-	4	2162	c.585C>T	c.(583-585)tcC>tcT	p.S195S	RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000325074.5_Silent_p.S210S|RUNX1_ENST00000300305.3_Silent_p.S222S|RUNX1_ENST00000358356.5_Silent_p.S195S|RUNX1_ENST00000437180.1_Silent_p.S222S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	195	Pro/Ser/Thr-rich.				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|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S218fs*4(1)		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						TGAGCCGCTCGGAAAAGGACA	0.642000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								25	126					0	0	0.681144	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958859	16958859	+	RNA	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:16958859C>A	ENST00000412962.1	-	0	74																											AGGCCCAGCTCTGTCACTCTG	0.567000													4	70					0.00024832	0.000263279	0.150653	1	0
MARK4	57787	broad.mit.edu	37	19	45768123	45768123	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:45768123G>A	ENST00000300843.4	+	6	744	c.447G>A	c.(445-447)tcG>tcA	p.S149S	MARK4_ENST00000262891.4_Silent_p.S149S	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	149	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACCTCGTGTCGCATGGCCGCA	0.677000													13	147					0	0	0.457914	0	0
PRR16	51334	broad.mit.edu	37	5	120021755	120021755	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:120021755C>A	ENST00000379551.2	+	3	554	c.197C>A	c.(196-198)gCc>gAc	p.A66D	PRR16_ENST00000446965.1_Missense_Mutation_p.A19D|PRR16_ENST00000407149.2_Missense_Mutation_p.A89D|PRR16_ENST00000505123.1_Missense_Mutation_p.A19D	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	89										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)		GGCACAACAGCCTCCAGCCTA	0.527000													42	75					2.66277e-13	3.0832e-13	0.827153	1	0
SVIL	6840	broad.mit.edu	37	10	29821795	29821795	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:29821795G>C	ENST00000375398.2	-	10	1950	c.1501C>G	c.(1501-1503)Caa>Gaa	p.Q501E	SVIL_ENST00000355867.4_Missense_Mutation_p.Q501E|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	501					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCGGAGCTTGAGGGGGTTGT	0.532000													29	121					0	0	0.729181	0	0
ABHD5	51099	broad.mit.edu	37	3	43756504	43756504	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:43756504G>A	ENST00000458276.2	+	5	850	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	243					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GTTCGAAGACGATACTGTGAC	0.383000													31	101					0	0	0.769981	0	0
RELN	5649	broad.mit.edu	37	7	103252122	103252122	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:103252122A>T	ENST00000428762.1	-	21	2990	c.2831T>A	c.(2830-2832)aTg>aAg	p.M944K	RELN_ENST00000343529.5_Missense_Mutation_p.M944K|RELN_ENST00000424685.2_Missense_Mutation_p.M944K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	944					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)		CTGGTTGTCCATGTGTGGGGT	0.463000													32	46					0	0	0.750413	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965026	42965026	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:42965026G>A	ENST00000399770.2	+	2	502	c.502G>A	c.(502-504)Gta>Ata	p.V168I		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	168	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.V168I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAACCATCGCGTAAAATTTGA	0.428000													5	325					0	0	0.184627	0	0
SMG1	23049	broad.mit.edu	37	16	18852958	18852958	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:18852958C>A	ENST00000446231.2	-	41	7037	c.6625G>T	c.(6625-6627)Gat>Tat	p.D2209Y	SMG1_ENST00000389467.3_Missense_Mutation_p.D2209Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2209	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTGGCTCCATCTACCCACTGG	0.433000													47	171					4.01344e-20	4.83812e-20	0.870114	1	0
ZDBF2	57683	broad.mit.edu	37	2	207170711	207170711	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:207170711T>G	ENST00000374423.3	+	5	1845	c.1459T>G	c.(1459-1461)Tat>Gat	p.Y487D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	487							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						TGACCAAAGCTATGAATCTAG	0.383000													4	72					0	0	0.184627	0	0
KMT2D	8085	broad.mit.edu	37	12	49434105	49434105	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:49434105G>C	ENST00000301067.7	-	31	7447	c.7448C>G	c.(7447-7449)tCt>tGt	p.S2483C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGGGCTAGAGACCCAGCCTT	0.667000													8	67					0	0	0.307466	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32212735	32212735	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:32212735C>T	ENST00000346541.3	+	7	1422	c.885C>T	c.(883-885)acC>acT	p.T295T	CBFA2T2_ENST00000375279.2_Silent_p.T295T|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Silent_p.T266T|CBFA2T2_ENST00000342704.5_Silent_p.T286T|CBFA2T2_ENST00000359606.3_Silent_p.T305T	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	295						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGCATTACACCTTAGAGGATA	0.532000													45	80					0	0	0.853193	0	0
HEATR4	399671	broad.mit.edu	37	14	73973234	73973234	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:73973234A>T	ENST00000553558.1	-	10	2244	c.1923T>A	c.(1921-1923)tgT>tgA	p.C641*	HEATR4_ENST00000560393.1_Nonsense_Mutation_p.C594*|HEATR4_ENST00000334988.2_Nonsense_Mutation_p.C641*	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCTTCCATTGACAGCTGTTCA	0.468000													33	170					0	0	0.796494	0	0
ANK2	287	broad.mit.edu	37	4	114294489	114294489	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:114294489A>C	ENST00000357077.4	+	45	11796	c.11743A>C	c.(11743-11745)Aaa>Caa	p.K3915Q	ANK2_ENST00000394537.3_Missense_Mutation_p.K1830Q|ANK2_ENST00000509550.1_Missense_Mutation_p.K1006Q|ANK2_ENST00000264366.6_Missense_Mutation_p.K3882Q|ANK2_ENST00000506722.1_Missense_Mutation_p.K1821Q|ANK2_ENST00000510275.2_Missense_Mutation_p.K513Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3882					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)		AGGCACAGAGAAAGAAGAGAT	0.403000													57	88					0	0	0.870114	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149728	70149728	+	Silent	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:70149728C>A	ENST00000374299.3	-	2	264	c.120G>T	c.(118-120)ctG>ctT	p.L40L	SLC7A3_ENST00000298085.4_Silent_p.L40L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	40					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCCACACCCAGGGCCACTA	0.557000													7	30					0.00307968	0.00318837	0.278610	1	0
C6orf165	154313	broad.mit.edu	37	6	88138453	88138453	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:88138453A>G	ENST00000507897.1	+	9	1153	c.1070A>G	c.(1069-1071)cAc>cGc	p.H357R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.H357R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	357										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)		TTGGGTGCTCACGAACTATAC	0.408000													85	134					0	0	0.870114	0	0
FABP5	2171	broad.mit.edu	37	8	82195651	82195651	+	Missense_Mutation	SNP	A	A	G	rs145774881		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:82195651A>G	ENST00000396359.1	+	2	498	c.28A>G	c.(28-30)Atc>Gtc	p.I10V	FABP5_ENST00000297258.6_Missense_Mutation_p.I44V			Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	44					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			GCCAGATTGTATCATCACTTG	0.393000													9	93					0	0	0.335167	0	0
IRAK1	3654	broad.mit.edu	37	X	153278545	153278545	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:153278545C>T	ENST00000369980.3	-	12	2046	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	IRAK1_ENST00000393687.2_Missense_Mutation_p.G597R|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393682.1_Missense_Mutation_p.G608R|IRAK1_ENST00000429936.2_Missense_Mutation_p.G623R|IRAK1_ENST00000369974.2_Missense_Mutation_p.G548R	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	627					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGATTCTCCTGCCGTGTCC	0.687000													16	15					0	0	0.520397	0	0
LTBP1	4052	broad.mit.edu	37	2	33500964	33500964	+	Missense_Mutation	SNP	G	G	C	rs142262862		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:33500964G>C	ENST00000404816.2	+	18	3319	c.2966G>C	c.(2965-2967)cGc>cCc	p.R989P	LTBP1_ENST00000404525.1_Missense_Mutation_p.R610P|LTBP1_ENST00000390003.4_Missense_Mutation_p.R664P|LTBP1_ENST00000402934.1_Missense_Mutation_p.R610P|LTBP1_ENST00000354476.3_Missense_Mutation_p.R990P|LTBP1_ENST00000418533.2_Missense_Mutation_p.R663P|LTBP1_ENST00000407925.1_Missense_Mutation_p.R663P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	989	EGF-like 6; calcium-binding (Potential).				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)				AGCGGGTACCGCATGACTCAG	0.572000													27	121					0	0	0.729181	0	0
CAMKK2	10645	broad.mit.edu	37	12	121686456	121686456	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:121686456C>G	ENST00000324774.5	-	14	2233	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	CAMKK2_ENST00000402834.4_Missense_Mutation_p.E469Q|CAMKK2_ENST00000392473.2_Missense_Mutation_p.E469Q|CAMKK2_ENST00000392474.2_Missense_Mutation_p.E469Q|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E469Q|CAMKK2_ENST00000404169.3_Missense_Mutation_p.E469Q|CAMKK2_ENST00000545538.1_Missense_Mutation_p.E256Q|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E469Q	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	469					calcium-mediated signaling|MAPKKK cascade|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)					TCGACCTCCTCTTCAGTCACT	0.612000													34	204					0	0	0.760397	0	0
IFT57	55081	broad.mit.edu	37	3	107941068	107941068	+	Silent	SNP	G	G	T	rs150114125		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:107941068G>T	ENST00000264538.3	-	1	349	c.102C>A	c.(100-102)ccC>ccA	p.P34P		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	34					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AGGCCGCGCCGGGCCCCCGCT	0.637000													21	43					3.83957e-06	4.22353e-06	0.639603	1	0
RBL1	5933	broad.mit.edu	37	20	35717398	35717398	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:35717398T>G	ENST00000373664.3	-	2	350	c.284A>C	c.(283-285)aAa>aCa	p.K95T	RBL1_ENST00000344359.3_Missense_Mutation_p.K95T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	95					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTACCTTAATTTAGCTGAACG	0.328000													65	106					0	0	0.870114	0	0
DPP4	1803	broad.mit.edu	37	2	162849867	162849867	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:162849867C>T	ENST00000360534.3	-	26	2787	c.2227G>A	c.(2227-2229)Gct>Act	p.A743T		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	743					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GTGCTGCTAGCTATTCCATGG	0.343000													47	193					0	0	0.870114	0	0
PRKAB1	5564	broad.mit.edu	37	12	120111774	120111774	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:120111774A>G	ENST00000229328.5	+	3	821	c.329A>G	c.(328-330)aAt>aGt	p.N110S	PRKAB1_ENST00000541640.1_Missense_Mutation_p.N110S|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	110					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TGCAGCCACAATAACTTTGTA	0.522000													33	113					0	0	0.788014	0	0
SLC16A10	117247	broad.mit.edu	37	6	111498518	111498518	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:111498518C>T	ENST00000368851.5	+	3	767	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	198					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTTCAAGAAGCGCCTTGGACT	0.498000													38	107					0	0	0.796494	0	0
IGHD5-12	28491	broad.mit.edu	37	14	106368512	106368512	+	RNA	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:106368512C>T	ENST00000390581.1	-	0	17																											CTGTGGTAATCGTAGCCACTA	0.607000													7	26					0	0	0.248553	0	0
THSD7A	221981	broad.mit.edu	37	7	11418786	11418786	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:11418786A>G	ENST00000423059.3	-	26	4963	c.4712T>C	c.(4711-4713)gTg>gCg	p.V1571A	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1571						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)		ACTGGTTTTCACATCTCCTCT	0.522000										HNSCC(18;0.044)			24	152					0	0	0.639603	0	0
ZFPM1	161882	broad.mit.edu	37	16	88598565	88598565	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:88598565C>T	ENST00000319555.3	+	7	1190	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	290					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCCCAACGAGCGCGTCTGCCC	0.716000													7	46					0	0	0.411799	0	0
MYF5	4617	broad.mit.edu	37	12	81111152	81111152	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:81111152G>A	ENST00000228644.3	+	1	462	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	104	Helix-loop-helix motif.				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	p.E104K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAGGCTTTCGAAACCCTCAA	0.597000													25	77					0	0	0.639603	0	0
TNXB	7148	broad.mit.edu	37	6	32038061	32038061	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:32038061C>A	ENST00000375244.3	-	14	5322	c.5121G>T	c.(5119-5121)caG>caT	p.Q1707H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q1707H			P22105	TENX_HUMAN	tenascin XB	1789	Fibronectin type-III 9.				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						TGTCCTTGAACTGGACCACAA	0.637000													10	23					0.000673444	0.000705513	0.361761	1	0
KCNS2	3788	broad.mit.edu	37	8	99440425	99440425	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:99440425G>A	ENST00000287042.4	+	2	568	c.218G>A	c.(217-219)cGc>cAc	p.R73H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R73H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	73						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R73H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACTTCGACCGCAACCCTGAG	0.597000													5	249					0	0	0.184627	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121139	18121139	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:18121139G>T	ENST00000222250.4	+	6	1127	c.984G>T	c.(982-984)agG>agT	p.R328S	ARRDC2_ENST00000379656.2_Missense_Mutation_p.R323S	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	328										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGGACTGGAGGCTGGGGGCCT	0.647000													12	33					4.7546e-09	5.29627e-09	0.500413	1	0
MALAT1	378938	broad.mit.edu	37	11	65268685	65268685	+	RNA	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:65268685A>G	ENST00000534336.1	+	0	3453					NR_002819.2																						GGCGGGGGGGAGTTTTCAGTA	0.398000													5	51					0	0	0.435327	0	0
HTR1A	3350	broad.mit.edu	37	5	63256858	63256858	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:63256858A>G	ENST00000323865.3	-	1	922	c.689T>C	c.(688-690)gTc>gCc	p.V230A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	230					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CACCTTTTTGACCGTCTTGCG	0.587000													4	99					0	0	0.184627	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	75					0	0	0.853193	0	0
TNRC6B	23112	broad.mit.edu	37	22	40719213	40719213	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr22:40719213G>A	ENST00000454349.2	+	23	5681	c.5470G>A	c.(5470-5472)Gac>Aac	p.D1824N	TNRC6B_ENST00000402203.1_Missense_Mutation_p.D1020N|TNRC6B_ENST00000301923.9_Missense_Mutation_p.D1020N|TNRC6B_ENST00000335727.8_Missense_Mutation_p.D1714N	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1824					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ACTACCTGGTGACCTTCTGGG	0.502000													27	58					0	0	0.693898	0	0
ASIC2	40	broad.mit.edu	37	17	32483260	32483260	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:32483260G>A	ENST00000359872.6	-	1	1053	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	98					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGGAGAACCGGAAGCCATTC	0.582000													15	46					0	0	0.500413	0	0
STAG2	10735	broad.mit.edu	37	X	123164834	123164834	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:123164834C>T	ENST00000371160.1	+	5	437	c.147C>T	c.(145-147)ggC>ggT	p.G49G	STAG2_ENST00000371145.3_Silent_p.G49G|STAG2_ENST00000371157.3_Silent_p.G49G|STAG2_ENST00000371144.3_Silent_p.G49G|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.G49G			Q8N3U4	STAG2_HUMAN	stromal antigen 2	49					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAAAAAGGGCCCAGCAGAAA	0.418000													76	31					0	0	0.870114	0	0
FAM134C	162427	broad.mit.edu	37	17	40761276	40761276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:40761276G>A	ENST00000309428.5	-	1	126	c.67C>T	c.(67-69)Cga>Tga	p.R23*	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	23						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GACACATCTCGGCGGCCCCTG	0.711000													29	20					0	0	0.779181	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612216	44612216	+	Silent	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:44612216C>G	ENST00000273320.3	+	6	2043	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.L538L|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		ATAGAAATCTCATTGACCATC	0.448000													39	135					0	0	0.827153	0	0
GRM3	2913	broad.mit.edu	37	7	86415678	86415678	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:86415678C>T	ENST00000361669.2	+	3	1669	c.570C>T	c.(568-570)acC>acT	p.T190T	GRM3_ENST00000394720.2_Silent_p.T188T|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.T62T|GRM3_ENST00000439827.1_Silent_p.T190T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	190					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)	TTGCCAGGACCGTGCCCCCCG	0.567000													41	153					0	0	0.840704	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113097	42113097	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr15:42113097G>A	ENST00000457542.2	+	23	2835	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R689H|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R856H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R733H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R850H	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	856										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)		AGAAGAGGGCGCTGGGTTCAG	0.637000													13	52					0	0	0.411799	0	0
TP53RK	112858	broad.mit.edu	37	20	45315819	45315819	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:45315819T>C	ENST00000372102.3	-	2	365	c.340A>G	c.(340-342)Ata>Gta	p.I114V				Q96S44	PRPK_HUMAN	TP53 regulating kinase	0	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TTCTTCCATATATAAGCAGTT	0.403000													108	478					0	0	0.870114	0	0
ADCY6	112	broad.mit.edu	37	12	49176910	49176910	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:49176910G>A	ENST00000307885.4	-	1	1002	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ADCY6_ENST00000550422.1_Missense_Mutation_p.T103M|ADCY6_ENST00000357869.3_Missense_Mutation_p.T103M	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	103					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CACCTCAGCCGTCCCGCCCGC	0.697000													16	59					0	0	0.539581	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351208	89351208	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:89351208G>C	ENST00000301030.4	-	9	2202	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S581C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	581	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAGCCCTCAGAGGAGTAGTC	0.547000													12	69					0	0	0.435327	0	0
NAV1	89796	broad.mit.edu	37	1	201751710	201751710	+	Silent	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:201751710A>T	ENST00000367296.4	+	6	2490	c.2070A>T	c.(2068-2070)ggA>ggT	p.G690G	NAV1_ENST00000367302.1_Silent_p.G703G|NAV1_ENST00000295624.6_Silent_p.G690G|NAV1_ENST00000367297.4_Silent_p.G690G|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.G299G|NAV1_ENST00000367300.3_Silent_p.G690G	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	690					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGCGGGGTGGACCTCGCCCTG	0.627000													47	44					0	0	0.853193	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005580	118005580	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:118005580C>A	ENST00000310754.4	-	1	1156	c.970G>T	c.(970-972)Gta>Tta	p.V324L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	324	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GAATCTTCTACCCACCTCTGA	0.408000													135	198					1.85997e-60	2.2733e-60	0.870114	1	0
MYOF	26509	broad.mit.edu	37	10	95111315	95111315	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:95111315A>T	ENST00000371501.4	-	34	3799	c.3677T>A	c.(3676-3678)tTt>tAt	p.F1226Y	MYOF_ENST00000359263.4_Missense_Mutation_p.F1226Y|MYOF_ENST00000358334.5_Missense_Mutation_p.F1213Y|MYOF_ENST00000371502.4_Missense_Mutation_p.F1226Y			Q9NZM1	MYOF_HUMAN	myoferlin	1226	C2 4.				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						TCGTCCTAAAAATTCATCTTT	0.413000													40	152					0	0	0.847076	0	0
NR1I2	8856	broad.mit.edu	37	3	119533912	119533912	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:119533912C>T	ENST00000393716.2	+	6	2720	c.881C>T	c.(880-882)gCg>gTg	p.A294V	NR1I2_ENST00000466380.1_Missense_Mutation_p.A257V|NR1I2_ENST00000337940.4_Missense_Mutation_p.A333V	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	294	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GTGTTCAATGCGGAGACTGGA	0.597000													16	94					0	0	0.500413	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996592	143996592	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:143996592C>G	ENST00000323110.2	-	3	467	c.465G>C	c.(463-465)caG>caC	p.Q155H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	155					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Candesartan(DB00796)|Metyrapone(DB01011)	GGAGGAACCTCTGCACGGCCT	0.637000									Familial Hyperaldosteronism type I				10	59					0	0	0.335167	0	0
DOCK5	80005	broad.mit.edu	37	8	25166333	25166333	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:25166333C>G	ENST00000276440.7	+	12	1128	c.1084C>G	c.(1084-1086)Ctc>Gtc	p.L362V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	362						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCAGAGGCAGCTCATCATGTC	0.468000													27	26					0	0	0.750413	0	0
POU1F1	5449	broad.mit.edu	37	3	87322645	87322645	+	Splice_Site	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:87322645G>C	ENST00000344265.3	-	2	185	c.142_splice	c.e2-1	p.V48_splice	POU1F1_ENST00000350375.2_Intron|POU1F1_ENST00000560656.1_Intron	NM_001122757.1	NP_001116229.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	47					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AAATAGATGGGACTGGTAAGA	0.343000													7	19					0	0	0.248553	0	0
DCHS2	54798	broad.mit.edu	37	4	155156833	155156833	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:155156833C>A	ENST00000357232.3	-	25	7605	c.7606G>T	c.(7606-7608)Gcc>Tcc	p.A2536S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2536					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		AAGCTGCTGGCGAACACTGCC	0.393000													16	94					1.02788e-11	1.17472e-11	0.520397	1	0
NOM1	64434	broad.mit.edu	37	7	156755792	156755792	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:156755792G>T	ENST00000275820.3	+	6	1849	c.1834G>T	c.(1834-1836)Gtg>Ttg	p.V612L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	612					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGGTGGATTGTGGGGTCCGC	0.622000													17	46					6.94344e-10	7.83363e-10	0.539581	1	0
RGS9	8787	broad.mit.edu	37	17	63156694	63156694	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:63156694A>G	ENST00000449996.3	+	5	425	c.353A>G	c.(352-354)gAt>gGt	p.D118G	RGS9_ENST00000262406.9_Missense_Mutation_p.D118G|RGS9_ENST00000443584.3_Missense_Mutation_p.D118G|RGS9_ENST00000577186.1_3'UTR	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	118					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						CCAGCTGAAGATACCGATTAC	0.463000													12	60					0	0	0.411799	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746104	23746104	+	Silent	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:23746104A>G	ENST00000357460.5	-	2	497	c.333T>C	c.(331-333)ggT>ggC	p.G111G	HOMEZ_ENST00000561013.1_Silent_p.G113G|HOMEZ_ENST00000431326.2_Silent_p.G113G	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCAGCTAATACCACAGCGGA	0.498000													6	244					0	0	0.217242	0	0
MTSS1	9788	broad.mit.edu	37	8	125577991	125577991	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:125577991C>G	ENST00000518547.1	-	9	1209	c.736G>C	c.(736-738)Gac>Cac	p.D246H	MTSS1_ENST00000431961.2_Missense_Mutation_p.D46H|MTSS1_ENST00000524090.1_Missense_Mutation_p.D136H|MTSS1_ENST00000325064.5_Missense_Mutation_p.D250H|MTSS1_ENST00000354184.4_Missense_Mutation_p.D46H|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.D246H	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	246	IMD.|Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTTTCAAGTCCAGAATCACC	0.527000													55	50					0	0	0.870114	0	0
A2M	2	broad.mit.edu	37	12	9222346	9222346	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:9222346C>T	ENST00000318602.7	-	33	4565	c.4258G>A	c.(4258-4260)Gat>Aat	p.D1420N		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1420					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	enzyme binding|GTPase activator activity|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)	CTTACCTTATCAAGGTAAATC	0.353000													40	160					0	0	0.870114	0	0
ARID1B	57492	broad.mit.edu	37	6	157528336	157528336	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:157528336A>G	ENST00000346085.5	+	20	6062	c.6061A>G	c.(6061-6063)Agg>Ggg	p.R2021G	ARID1B_ENST00000367148.1_Missense_Mutation_p.R2061G|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2008G|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2003G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2008					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)		CGAGGTCTTGAGGGATAACAC	0.542000													3	126					0	0	0.115264	0	0
UBXN4	23190	broad.mit.edu	37	2	136499550	136499550	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:136499550G>A	ENST00000272638.9	+	1	362	c.51G>A	c.(49-51)agG>agA	p.R17R		NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	17					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CGGCCAAAAGGAGCGGCGCGG	0.672000													6	22					0	0	0.278610	0	0
CETP	1071	broad.mit.edu	37	16	56996954	56996954	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:56996954G>T	ENST00000200676.3	+	2	281	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.A51S	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	51					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GATCCAGACCGCCTTCCAGCG	0.622000													12	67					1.36491e-13	1.59089e-13	0.435327	1	0
FAT3	120114	broad.mit.edu	37	11	92531604	92531604	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:92531604G>A	ENST00000298047.6	+	9	5442	c.5425G>A	c.(5425-5427)Gct>Act	p.A1809T	FAT3_ENST00000525166.1_Missense_Mutation_p.A1659T|FAT3_ENST00000409404.2_Missense_Mutation_p.A1809T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1809	Cadherin 16.				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)				CAACCGGAATGCTCTGCTTGT	0.488000										TCGA Ovarian(4;0.039)			5	20					0	0	0.248553	0	0
FAM111B	374393	broad.mit.edu	37	11	58892771	58892771	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:58892771C>G	ENST00000343597.3	+	4	1392	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	FAM111B_ENST00000529618.1_Missense_Mutation_p.Q371E|FAM111B_ENST00000411426.1_Missense_Mutation_p.Q371E	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	401							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATAATGCATCAGTATCCGAA	0.378000													48	113					0	0	0.870114	0	0
TRIM27	5987	broad.mit.edu	37	6	28872383	28872383	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:28872383G>A	ENST00000377199.3	-	8	1362	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TRIM27_ENST00000377194.3_Missense_Mutation_p.R336W	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	336	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CGCACTTGCCGCAGATTATCA	0.577000			T	RET	papillary thyroid								9	53					0	0	0.307466	0	0
ZNF567	163081	broad.mit.edu	37	19	37210997	37210997	+	Silent	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:37210997C>A	ENST00000585696.1	+	3	2508	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	ZNF567_ENST00000588311.1_Silent_p.S426S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.S457S|ZNF567_ENST00000360729.4_Silent_p.S426S|ZNF567_ENST00000392163.2_Silent_p.S426S			Q8N184	ZN567_HUMAN	zinc finger protein 567	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGGAAAGTCCTTCCGCCAGA	0.428000													38	73					3.3946e-10	3.85451e-10	0.812448	1	0
KCNB2	9312	broad.mit.edu	37	8	73480489	73480489	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:73480489G>C	ENST00000523207.1	+	2	1108	c.520G>C	c.(520-522)Gat>Cat	p.D174H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	174					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)			CTGCTGCCCTGATAAAAGGAA	0.438000													37	212					0	0	0.812448	0	0
GABRP	2568	broad.mit.edu	37	5	170222219	170222219	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:170222219C>A	ENST00000518525.1	+	6	712	c.248C>A	c.(247-249)aCa>aAa	p.T83K	GABRP_ENST00000519598.1_Missense_Mutation_p.T83K|GABRP_ENST00000265294.4_Missense_Mutation_p.T83K|GABRP_ENST00000519385.1_Missense_Mutation_p.T83K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	83						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGACTACACAGCCACCATA	0.567000													13	274					8.60227e-14	1.00933e-13	0.500413	1	0
SLC8A1	6546	broad.mit.edu	37	2	40657152	40657152	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:40657152A>C	ENST00000406785.1	-	2	458	c.269T>G	c.(268-270)cTt>cGt	p.L90R	SLC8A1_ENST00000403092.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000402441.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000332839.4_Missense_Mutation_p.L90R|SLC8A1_ENST00000542756.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L90R|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L90R|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L90R|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L90R|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L90R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	90					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)	AGAGACTCCAAGAAACATGTA	0.423000													88	115					0	0	0.870114	0	0
NEK9	91754	broad.mit.edu	37	14	75562095	75562095	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:75562095C>T	ENST00000238616.5	-	18	2371	c.2213G>A	c.(2212-2214)aGt>aAt	p.S738N		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	738	Interaction with NEK6.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GGATAAGCCACTGCTATTGGA	0.388000													7	105					0	0	0.307466	0	0
GPD2	2820	broad.mit.edu	37	2	157426617	157426617	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:157426617G>C	ENST00000310454.6	+	12	1867	c.1495G>C	c.(1495-1497)Gcc>Ccc	p.A499P	GPD2_ENST00000438166.2_Missense_Mutation_p.A499P|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.A272P|GPD2_ENST00000409674.1_Missense_Mutation_p.A499P	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	499					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GCATCTTGCCGCCACCTATGG	0.458000													21	119					0	0	0.608945	0	0
COX15	1355	broad.mit.edu	37	10	101480789	101480789	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:101480789A>G	ENST00000370483.5	-	6	837	c.787T>C	c.(787-789)Ttt>Ctt	p.F263L	COX15_ENST00000016171.5_Missense_Mutation_p.F263L|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	263					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CCATGAGCAAATCGTCTCAAC	0.453000													9	41					0	0	0.335167	0	0
GAS7	8522	broad.mit.edu	37	17	9820581	9820581	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:9820581C>G	ENST00000396115.1	-	14	1525	c.1215G>C	c.(1213-1215)aaG>aaC	p.K405N	GAS7_ENST00000579158.1_Missense_Mutation_p.K417N|GAS7_ENST00000542249.1_Missense_Mutation_p.K410N|GAS7_ENST00000437099.2_Missense_Mutation_p.K401N|GAS7_ENST00000540214.1_Missense_Mutation_p.K170N|GAS7_ENST00000585266.1_Missense_Mutation_p.K401N|GAS7_ENST00000432992.2_Missense_Mutation_p.K465N|GAS7_ENST00000580865.1_Missense_Mutation_p.K325N|GAS7_ENST00000323816.4_Missense_Mutation_p.K401N|GAS7_ENST00000583882.1_Intron	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	465					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTTGCCCGTCTTGTGCTCTC	0.627000			T	MLL	AML*								17	68					0	0	0.592651	0	0
TMEM38B	55151	broad.mit.edu	37	9	108483954	108483954	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:108483954T>A	ENST00000374688.1	+	3	954	c.244T>A	c.(244-246)Tat>Aat	p.Y82N	TMEM38B_ENST00000374692.3_Missense_Mutation_p.Y136N			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	136						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TGCTAATAGCTATTACAAAAA	0.388000													75	44					0	0	0.870114	0	0
HTR1D	3352	broad.mit.edu	37	1	23520575	23520575	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:23520575G>A	ENST00000374619.1	-	1	647	c.138C>T	c.(136-138)tcC>tcT	p.S46S	HTR1D_ENST00000314113.3_Silent_p.S46S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	46					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)	GTGTGATGACGGAAAGGACCA	0.572000													91	101					0	0	0.870114	0	0
DNAH5	1767	broad.mit.edu	37	5	13721351	13721351	+	Missense_Mutation	SNP	G	G	A	rs148349630		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:13721351G>A	ENST00000265104.4	-	71	12141	c.12037C>T	c.(12037-12039)Cgc>Tgc	p.R4013C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4013	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)					ATGTACTTGCGGGCCTGCCAA	0.408000									Kartagener syndrome				52	84					0	0	0.870114	0	0
FAT3	120114	broad.mit.edu	37	11	92531605	92531605	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:92531605C>A	ENST00000298047.6	+	9	5443	c.5426C>A	c.(5425-5427)gCt>gAt	p.A1809D	FAT3_ENST00000525166.1_Missense_Mutation_p.A1659D|FAT3_ENST00000409404.2_Missense_Mutation_p.A1809D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1809	Cadherin 16.				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)				AACCGGAATGCTCTGCTTGTG	0.488000										TCGA Ovarian(4;0.039)			5	20					2.0095e-06	2.22435e-06	0.248553	1	0
FAM160B1	57700	broad.mit.edu	37	10	116605950	116605950	+	Missense_Mutation	SNP	C	C	T	rs17853717		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:116605950C>T	ENST00000369248.4	+	10	1557	c.1222C>T	c.(1222-1224)Ctc>Ttc	p.L408F	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L408F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	408			L -> I (in dbSNP:rs17853717).							NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GATGGGTATTCTCACATCCAC	0.433000													7	420					0	0	0.248553	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060189	128060189	+	Silent	SNP	C	C	T	rs114698998	byFrequency	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:128060189C>T	ENST00000254730.6	+	5	954	c.900C>T	c.(898-900)cgC>cgT	p.R300R	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Silent_p.R245R	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	300						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGCTGGAGCGCGGGTTGGTGT	0.592000													42	99					0	0	0.827153	0	0
NRG3	10718	broad.mit.edu	37	10	83635638	83635638	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:83635638C>A	ENST00000404547.1	+	1	542	c.542C>A	c.(541-543)tCc>tAc	p.S181Y	NRG3_ENST00000372141.2_Missense_Mutation_p.S181Y			P56975	NRG3_HUMAN	neuregulin 3	181	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCCCGCGCTCCACCACAGCA	0.721000													10	34					3.86212e-05	4.17014e-05	0.361761	1	0
APOB	338	broad.mit.edu	37	2	21228715	21228715	+	Silent	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:21228715G>T	ENST00000233242.1	-	26	11152	c.11025C>A	c.(11023-11025)atC>atA	p.I3675I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3675					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)	CTGGTAGGATGATATTTTTGA	0.458000													58	87					1.17673e-23	1.4283e-23	0.870114	1	0
RHOG	391	broad.mit.edu	37	11	3848803	3848803	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:3848803A>C	ENST00000351018.4	-	2	723	c.566T>G	c.(565-567)aTc>aGc	p.I189S	RHOG_ENST00000396979.1_Missense_Mutation_p.I189S|RHOG_ENST00000533217.1_Missense_Mutation_p.I189S|RHOG_ENST00000396978.1_Missense_Mutation_p.I189S	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	189					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCACAAGAGGATGCAGGACCG	0.627000													7	30					0	0	0.307466	0	0
PCLO	27445	broad.mit.edu	37	7	82764455	82764455	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:82764455T>G	ENST00000423517.2	-	3	2748	c.2411A>C	c.(2410-2412)cAg>cCg	p.Q804P	PCLO_ENST00000333891.8_Missense_Mutation_p.Q804P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	750	Pro-rich.				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						TGGAAAACTCTGTGAGGGTTT	0.433000													80	185					0	0	0.870114	0	0
PROL1	58503	broad.mit.edu	37	4	71275443	71275443	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:71275443T>C	ENST00000399575.2	+	3	572	c.398T>C	c.(397-399)aTt>aCt	p.I133T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	133	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)				TTTCTTGCTATTTACCTTCCT	0.443000													56	210					0	0	0.870114	0	0
DMXL1	1657	broad.mit.edu	37	5	118469800	118469800	+	Silent	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:118469800G>A	ENST00000311085.8	+	12	2261	c.2181G>A	c.(2179-2181)cgG>cgA	p.R727R	DMXL1_ENST00000539542.1_Silent_p.R727R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	727										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)		AGCTTGCCCGGATTAATTCTC	0.443000													26	257					0	0	0.667858	0	0
MYOF	26509	broad.mit.edu	37	10	95111312	95111312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:95111312A>T	ENST00000371501.4	-	34	3802	c.3680T>A	c.(3679-3681)tTa>tAa	p.L1227*	MYOF_ENST00000359263.4_Nonsense_Mutation_p.L1227*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.L1214*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.L1227*			Q9NZM1	MYOF_HUMAN	myoferlin	1227	C2 4.				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						GCTTCGTCCTAAAAATTCATC	0.413000													41	148					0	0	0.853193	0	0
COL6A6	131873	broad.mit.edu	37	3	130292957	130292957	+	Silent	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:130292957C>T	ENST00000358511.6	+	7	3166	c.3135C>T	c.(3133-3135)agC>agT	p.S1045S	COL6A6_ENST00000453409.2_Silent_p.S1045S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1045	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCAGTTTAGCGATACCTATC	0.418000													24	55					0	0	0.624587	0	0
SLC4A7	9497	broad.mit.edu	37	3	27490193	27490193	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:27490193T>A	ENST00000295736.5	-	3	281	c.211A>T	c.(211-213)Aga>Tga	p.R71*	SLC4A7_ENST00000425128.2_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.R71*|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.R80*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.R76*|SLC4A7_ENST00000388777.4_De_novo_Start_OutOfFrame	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	71						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTATCTTTTCTTCTCCGGTGG	0.408000													78	71					0	0	0.870114	0	0
S100PBP	64766	broad.mit.edu	37	1	33295639	33295639	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:33295639A>C	ENST00000373475.5	+	5	1249	c.995A>C	c.(994-996)cAt>cCt	p.H332P	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.H331P|S100PBP_ENST00000373476.1_Missense_Mutation_p.H332P	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	332						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GTCATTGCTCATATAGAAGAC	0.403000													29	140					0	0	0.779181	0	0
ATRNL1	26033	broad.mit.edu	37	10	117061476	117061476	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr10:117061476G>A	ENST00000355044.3	+	17	2867	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R11Q	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	914	PSI 4.					integral to membrane	sugar binding	p.R914Q(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)		AGTACGAAACGATGTGTTGAC	0.453000													29	163					0	0	0.729181	0	0
UGDH	7358	broad.mit.edu	37	4	39523092	39523092	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:39523092T>C	ENST00000316423.6	-	2	383	c.41A>G	c.(40-42)tAt>tGt	p.Y14C	UGDH_ENST00000501493.2_Missense_Mutation_p.Y14C|UGDH_ENST00000506179.1_Missense_Mutation_p.Y14C|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	14					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TCCTCCAACATAGCCTGCACC	0.373000													28	97					0	0	0.769981	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591756	70591756	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr8:70591756C>G	ENST00000260126.3	-	8	2587	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K572N|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K627N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	627						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)			TGAGATAAGTCTTGACAATAA	0.448000													47	229					0	0	0.870114	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320898	78320898	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:78320898C>T	ENST00000466548.1	+	5	1126	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	SLAIN1_ENST00000358679.3_Missense_Mutation_p.S104F|SLAIN1_ENST00000418532.1_Missense_Mutation_p.S148F|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000351546.3_Missense_Mutation_p.S104F|SLAIN1_ENST00000488699.1_Missense_Mutation_p.S225F|SLAIN1_ENST00000267219.8_Missense_Mutation_p.S148F|SLAIN1_ENST00000465831.1_3'UTR	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	367										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AGCCCCAGTTCCCAGTATTTT	0.478000													54	97					0	0	0.870114	0	0
RBM25	58517	broad.mit.edu	37	14	73566382	73566382	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:73566382T>G	ENST00000261973.7	+	9	1076	c.791T>G	c.(790-792)aTa>aGa	p.I264R	RBM25_ENST00000527432.1_Missense_Mutation_p.I264R|RBM25_ENST00000540173.1_Missense_Mutation_p.I264R|RBM25_ENST00000525321.1_Missense_Mutation_p.I264R|RBM25_ENST00000526754.1_Missense_Mutation_p.I264R	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	264					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TAGGAGGATATAAATGCTATA	0.358000													22	156					0	0	0.624587	0	0
SEPT12	124404	broad.mit.edu	37	16	4835848	4835848	+	Missense_Mutation	SNP	C	C	G	rs141666105		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:4835848C>G	ENST00000268231.8	-	4	597	c.334G>C	c.(334-336)Gac>Cac	p.D112H	SEPT12_ENST00000591861.1_5'UTR|SEPT12_ENST00000396693.5_Missense_Mutation_p.D112H	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	112					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.D112N(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCGGGCGTGTCCGTCACCGTC	0.547000													24	88					0	0	0.706142	0	0
GPR22	2845	broad.mit.edu	37	7	107115239	107115239	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:107115239G>A	ENST00000304402.4	+	3	2077	c.734G>A	c.(733-735)aGa>aAa	p.R245K	COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	245						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATAGGCACAAGATTTTCAACA	0.378000													14	52					0	0	0.457914	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956911	45956911	+	Silent	SNP	T	T	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:45956911T>C	ENST00000275521.6	-	2	664	c.531A>G	c.(529-531)aaA>aaG	p.K177K	IGFBP3_ENST00000381086.5_Silent_p.K80K|IGFBP3_ENST00000381083.4_Silent_p.K183K|IGFBP3_ENST00000465642.1_5'UTR	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	177					negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TAGCATGCCCTTTCTTGATGA	0.547000											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	116	162					0	0	0.870114	0	0
MTUS2	23281	broad.mit.edu	37	13	29599467	29599467	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr13:29599467G>T	ENST00000431530.3	+	1	720	c.662G>T	c.(661-663)gGg>gTg	p.G221V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	211						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						CAGATACCTGGGGGTGGGGAG	0.607000													9	34					6.40141e-05	6.86981e-05	0.387290	1	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249317	90249317	+	RNA	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:90249317G>A	ENST00000468879.1	+	0	454																											GATCTGGGACGGATTACACTC	0.468000													35	379					0	0	0.870114	0	0
ADCY1	107	broad.mit.edu	37	7	45750144	45750144	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:45750144G>T	ENST00000297323.7	+	19	2972	c.2950G>T	c.(2950-2952)Gtg>Ttg	p.V984L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	984			V -> M (in dbSNP:rs2293106).		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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTTGGCCCTGTGGTGGCTGG	0.582000													18	101					1.10923e-09	1.24347e-09	0.639603	1	0
NR3C1	2908	broad.mit.edu	37	5	142779539	142779539	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:142779539G>A	ENST00000343796.2	-	2	1859	c.866C>T	c.(865-867)cCt>cTt	p.P289L	NR3C1_ENST00000231509.3_Missense_Mutation_p.P289L|NR3C1_ENST00000424646.2_Missense_Mutation_p.P289L|NR3C1_ENST00000394464.2_Missense_Mutation_p.P289L|NR3C1_ENST00000503201.1_Missense_Mutation_p.P289L|NR3C1_ENST00000504572.1_Missense_Mutation_p.P289L|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.P289L|NR3C1_ENST00000394466.2_Missense_Mutation_p.P289L	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	289	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AATTACCCCAGGGGTGCAGAG	0.398000													7	331					0	0	0.307466	0	0
CCBL2	56267	broad.mit.edu	37	1	89427140	89427140	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:89427140G>C	ENST00000260508.4	-	7	927	c.590C>G	c.(589-591)cCt>cGt	p.P197R	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.P163R	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	197					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGTTCTTGAGGATCTAATGT	0.323000													40	209					0	0	0.819951	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149727	70149727	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chrX:70149727C>T	ENST00000374299.3	-	2	265	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.G41S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	41					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCACACCCAGGGCCACT	0.557000													7	28					0	0	0.278610	0	0
ATF6B	1388	broad.mit.edu	37	6	32093996	32093996	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:32093996T>A	ENST00000375201.4	-	5	412	c.367A>T	c.(367-369)Aca>Tca	p.T123S	ATF6B_ENST00000375203.3_Missense_Mutation_p.T126S|ATF6B_ENST00000468502.1_5'UTR			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	126					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AAGGACTCTGTCTTCACATGG	0.542000													49	71					0	0	0.864702	0	0
HEATR4	399671	broad.mit.edu	37	14	73973233	73973233	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr14:73973233G>T	ENST00000553558.1	-	10	2245	c.1924C>A	c.(1924-1926)Caa>Aaa	p.Q642K	HEATR4_ENST00000560393.1_Missense_Mutation_p.Q595K|HEATR4_ENST00000334988.2_Missense_Mutation_p.Q642K	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTCTTCCATTGACAGCTGTTC	0.468000													33	169					1.36161e-19	1.61922e-19	0.796494	1	0
HESX1	8820	broad.mit.edu	37	3	57232884	57232884	+	Missense_Mutation	SNP	G	G	A	rs149663188		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:57232884G>A	ENST00000295934.3	-	2	290	c.254C>T	c.(253-255)tCg>tTg	p.S85L	HESX1_ENST00000473921.1_Missense_Mutation_p.S85L	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S85L(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTCATATTTCGAAGCTCTTTC	0.418000													128	367					0	0	0.870114	0	0
ZNF337	26152	broad.mit.edu	37	20	25656794	25656794	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr20:25656794G>A	ENST00000376436.1	-	4	1669	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	ZNF337_ENST00000252979.5_Missense_Mutation_p.A377V|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.A345V|RP4-694B14.5_ENST00000414393.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCCTGCACGCAAAGGGCTT	0.512000													25	130					0	0	0.667858	0	0
ATP2B1	490	broad.mit.edu	37	12	89995159	89995159	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr12:89995159T>A	ENST00000428670.3	-	19	3568	c.3112A>T	c.(3112-3114)Ata>Tta	p.I1038L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.I1038L|ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000359142.3_Missense_Mutation_p.I1038L|ATP2B1_ENST00000393164.2_Missense_Mutation_p.I781L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1038					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CACTGTTCTATTGAAAGTTCT	0.308000													60	196					0	0	0.870114	0	0
FFAR3	2865	broad.mit.edu	37	19	35850648	35850648	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:35850648G>A	ENST00000327809.4	+	2	1057	c.856G>A	c.(856-858)Gac>Aac	p.D286N	FFAR3_ENST00000594310.1_Missense_Mutation_p.D286N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	286						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTTCCAAGCCGACTTTCATGA	0.597000													12	92					0	0	0.575678	0	0
TKTL2	84076	broad.mit.edu	37	4	164393537	164393537	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr4:164393537G>C	ENST00000280605.3	-	1	1510	c.1350C>G	c.(1348-1350)ttC>ttG	p.F450L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	450						cytoplasm	metal ion binding|transketolase activity	p.F450F(1)		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)				CACTTGGATAGAAAACAGTAC	0.488000													39	131					0	0	0.804634	0	0
CILP	8483	broad.mit.edu	37	15	65494259	65494259	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr15:65494259C>G	ENST00000261883.4	-	8	1303	c.1137G>C	c.(1135-1137)caG>caC	p.Q379H		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	379	Ig-like C2-type.				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						CAGCATCACTCTGGGCCTTGC	0.572000													11	46					0	0	0.435327	0	0
GPI	2821	broad.mit.edu	37	19	34859497	34859497	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr19:34859497G>T	ENST00000415930.3	+	5	579	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L	GPI_ENST00000586425.1_Missense_Mutation_p.V98L|GPI_ENST00000356487.5_Missense_Mutation_p.V98L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	98					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGGTCGAGCCGTGCTGCACGT	0.597000													8	71					1.12685e-05	1.22423e-05	0.307466	1	0
C1orf35	79169	broad.mit.edu	37	1	228289842	228289843	+	Frame_Shift_Ins	INS	-	-	C	rs1128456	by1000genomes	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr1:228289842_228289843insC	ENST00000272139.4	-	6	705_706	c.471_472insG	c.(469-474)ggccggfs	p.R158fs	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	158										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GAGGTCCCGGGCCCGCCGCTCT	0.743													3	5	---	---	---	---					
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aagcttfs	p.L1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401													10	268	---	---	---	---					
STK16	8576	broad.mit.edu	37	2	220113249	220113250	+	In_Frame_Ins	INS	-	-	CAG			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr2:220113249_220113250insCAG	ENST00000409638.3	+	8	1058_1059	c.886_887insCAG	c.(886-888)agc>CAGagc	p.295_296insQ	STK16_ENST00000396738.2_In_Frame_Ins_p.295_296insQ|STK16_ENST00000409743.1_In_Frame_Ins_p.263_264insQ|STK16_ENST00000409260.1_In_Frame_Ins_p.340_341insQ|STK16_ENST00000409516.3_In_Frame_Ins_p.177_178insQ	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	295					protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTCAGCCCCCAGCTCCTGGC	0.550													22	162	---	---	---	---					
TREX1	11277	broad.mit.edu	37	3	48507992	48507993	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr3:48507992_48507993delCT	ENST00000422277.2	+	1	764_765	c.103_104delCT	c.(103-105)gfs	p.L35fs	TREX1_ENST00000456089.1_Intron|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000436480.2_Intron|TREX1_ENST00000444177.1_Intron|TREX1_ENST00000492235.1_Intron|TREX1_ENST00000296443.9_Intron	NM_016381.3	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	35					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			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)		GATCTTAACACTGGGCACTCAC	0.658													101	153	---	---	---	---					
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	RNA	INS	-	-	TAAAA	rs80243332	by1000genomes	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA																							acccatgcacttaaagttaaaa	0.361													3	3	---	---	---	---					
PDGFRB	5159	broad.mit.edu	37	5	149510155	149510156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr5:149510155_149510156insC	ENST00000261799.4	-	9	1782_1783	c.1313_1314insG	c.(1312-1314)gcgfs	p.A438fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	438	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCCCGGCCACGACAGCG	0.614			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	331	---	---	---	---					
CEP57L1	285753	broad.mit.edu	37	6	109484156	109484158	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr6:109484156_109484158delATC	ENST00000407272.1	+	13	1943_1945	c.1366_1368delATC	c.(1366-1368)del	p.I456del	CEP57L1_ENST00000336977.4_In_Frame_Del_p.I356del|CEP57L1_ENST00000521522.1_In_Frame_Del_p.I403del|CEP57L1_ENST00000520883.1_In_Frame_Del_p.I356del|CEP57L1_ENST00000517392.1_In_Frame_Del_p.I456del|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000368970.2_In_Frame_Del_p.I473del|CEP57L1_ENST00000359793.3_In_Frame_Del_p.I456del|CEP57L1_ENST00000523787.1_In_Frame_Del_p.I459del	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	456						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAGAGATGATATCATGTGGGAAC	0.335													20	58	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44715617	44715617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr7:44715617delA	ENST00000222673.5	+	9	1117	c.1075delA	c.(1075-1077)atfs	p.N359fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.N355fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.N370fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.N374fs|OGDH_ENST00000439616.2_Frame_Shift_Del_p.N209fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.N310fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.N359fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	359					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCGCAGGATCAATCGTGTCAC	0.562													78	216	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139411734	139411740	+	Frame_Shift_Del	DEL	CTCGCAC	CTCGCAC	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr9:139411734_139411740delCTCGCAC	ENST00000277541.6	-	9	1614_1620	c.1539_1545delGTGCGAG	c.(1537-1545)cafs	p.QCE513fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	513	EGF-like 13; calcium-binding (Potential).				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|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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)		CCGTGGGGCACTCGCACTGGAACTCAT	0.691			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	12	---	---	---	---					
KIAA1549L	25758	broad.mit.edu	37	11	33565011	33565017	+	Frame_Shift_Del	DEL	CACCCAG	CACCCAG	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr11:33565011_33565017delCACCCAG	ENST00000321505.4	+	1	1191_1197	c.1011_1017delCACCCAG	c.(1009-1017)gcfs	p.ATQ337fs	KIAA1549L_ENST00000265654.5_Frame_Shift_Del_p.ATQ337fs|KIAA1549L_ENST00000389726.3_Frame_Shift_Del_p.ATQ337fs					KIAA1549-like																		CCATACAAGCCACCCAGACTGTTTTCC	0.517											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	307	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													3	4	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													5	4	---	---	---	---					
POLR3H	171568	broad.mit.edu	37	22	41928719	41928719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-5149-01A-01D-1512-08	TCGA-BA-5149-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e98841c-ce33-4b7e-882d-ce65707d4c10	a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb	g.chr22:41928719delA	ENST00000355209.4	-	3	582	c.239delT	c.(238-240)tcfs	p.F80fs	POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.F80fs|POLR3H_ENST00000407461.1_Frame_Shift_Del_p.F80fs	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	80					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CTCATCTAGGAATGGATGAAA	0.547											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	73	---	---	---	---