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
EMILIN2	84034	broad.mit.edu	37	18	2913162	2913162	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:2913162C>T	ENST00000254528.3	+	8	3081	c.2922C>T	c.(2920-2922)aaC>aaT	p.N974N	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	974	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CGGTCTCCAACGCCAGCGTGG	0.642000													8	42					0	0	0.004482	0	0
ADNP	23394	broad.mit.edu	37	20	49510683	49510683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:49510683G>C	ENST00000396029.3	-	5	1135	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	ADNP_ENST00000349014.3_Missense_Mutation_p.Q190E|ADNP_ENST00000371602.4_Missense_Mutation_p.Q190E|ADNP_ENST00000396032.3_Missense_Mutation_p.Q190E	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GCCACATGCTGAAAATGTTCC	0.448000													24	82					0	0	0.003954	0	0
AHNAK	79026	broad.mit.edu	37	11	62297749	62297749	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62297749C>T	ENST00000378024.4	-	5	4414	c.4140G>A	c.(4138-4140)ctG>ctA	p.L1380L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1380					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATCTTCAGGTGCCAAT	0.498000													81	236					0	0	0.014410	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569056	129569056	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:129569056G>C	ENST00000422113.2	-	6	1961	c.1635C>G	c.(1633-1635)atC>atG	p.I545M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I83M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	545						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGCTGGAGACGATGGGCACTC	0.592000													5	11					0	0	0.000602	0	0
MAML3	55534	broad.mit.edu	37	4	140811093	140811093	+	Silent	SNP	C	C	T	rs72161425		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:140811093C>T	ENST00000509479.2	-	2	2353	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q343Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	499	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.527000													4	29					0	0	0.009096	0	0
POLG	5428	broad.mit.edu	37	15	89862269	89862269	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:89862269C>T	ENST00000268124.5	-	20	3499	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	POLG_ENST00000442287.2_Missense_Mutation_p.E1056K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1056					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTGAACATTTCTGACTCTGTG	0.562000								DNA polymerases (catalytic subunits)					6	93					0	0	0.001168	0	0
AVL9	23080	broad.mit.edu	37	7	32612918	32612918	+	Missense_Mutation	SNP	G	G	C	rs139006890		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:32612918G>C	ENST00000318709.4	+	12	1679	c.1458G>C	c.(1456-1458)gaG>gaC	p.E486D	AVL9_ENST00000409301.1_Missense_Mutation_p.E486D|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	486						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACGTGACTGAGAATCGGGATG	0.557000													14	36					0	0	0.004990	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	67					0	0	0.001984	0	0
CAND1	55832	broad.mit.edu	37	12	67699870	67699870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:67699870C>T	ENST00000545606.1	+	10	2859	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	808					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGCCCTTACTCGAGCATGCCC	0.443000													31	50					0	0	0.009535	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140743929	140743929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:140743929G>A	ENST00000518069.1	+	1	32	c.32G>A	c.(31-33)gGa>gAa	p.G11E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGCGGAGAGCTGCTG	0.582000													6	20					0	0	0.001168	0	0
LIPI	149998	broad.mit.edu	37	21	15561416	15561416	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:15561416C>G	ENST00000344577.2	-	2	459	c.434G>C	c.(433-435)aGa>aCa	p.R145T	LIPI_ENST00000536861.1_Missense_Mutation_p.R124T	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	124					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTAACTGCTCTATTATAAAT	0.338000													5	43					0	0	0.000602	0	0
XKR7	343702	broad.mit.edu	37	20	30584822	30584822	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:30584822C>G	ENST00000217299.3	+	3	1476	c.1302C>G	c.(1300-1302)gtC>gtG	p.V434V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	434						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATGTGTGTCTACTACTGTC	0.587000													15	46					0	0	0.006122	0	0
IRS1	3667	broad.mit.edu	37	2	227660640	227660640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:227660640C>T	ENST00000305123.4	-	1	3835	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	939					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATGTACTCCTCAGTGCCAGTC	0.652000													19	82					0	0	0.007413	0	0
ASXL2	55252	broad.mit.edu	37	2	25965130	25965130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:25965130G>A	ENST00000435504.4	-	13	4369	c.4076C>T	c.(4075-4077)tCa>tTa	p.S1359L	ASXL2_ENST00000404843.1_Missense_Mutation_p.S842L|ASXL2_ENST00000272341.4_Missense_Mutation_p.S842L|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1331L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGAAAATGACATGACATC	0.493000													9	21					0	0	0.004482	0	0
AHNAK	79026	broad.mit.edu	37	11	62298201	62298201	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62298201C>G	ENST00000378024.4	-	5	3962	c.3688G>C	c.(3688-3690)Gaa>Caa	p.E1230Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1230					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGATTTCAACATCTGGC	0.483000													89	285					0	0	0.014410	0	0
KRT10	3858	broad.mit.edu	37	17	38978336	38978336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:38978336C>A	ENST00000269576.5	-	1	511	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	168	Coil 1A.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTTGATTCTTCCAGAGCCCGA	0.463000													32	109					1.55811e-20	1.69469e-20	0.008361	1	0
NFKBIL1	4795	broad.mit.edu	37	6	31525604	31525604	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31525604G>A	ENST00000376148.4	+	3	648	c.534G>A	c.(532-534)caG>caA	p.Q178Q	NFKBIL1_ENST00000376145.4_Intron	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	178					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						ACGAGTGGCAGGAAGTCATGG	0.567000													4	30					0	0	0.009096	0	0
VCL	7414	broad.mit.edu	37	10	75877857	75877857	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:75877857C>T	ENST00000211998.4	+	22	3429	c.3335C>T	c.(3334-3336)gCt>gTt	p.A1112V	VCL_ENST00000372755.3_Missense_Mutation_p.A1044V|VCL_ENST00000417648.2_Missense_Mutation_p.A305V	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1112	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCTGAAGCTGCTTCAATCAAA	0.517000													4	69					0	0	0.009096	0	0
SLC24A2	25769	broad.mit.edu	37	9	19619622	19619622	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:19619622G>C	ENST00000341998.2	-	3	1099	c.1038C>G	c.(1036-1038)atC>atG	p.I346M	SLC24A2_ENST00000286344.3_Missense_Mutation_p.I346M	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	346					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGAGTTGGAAGATGCTATTCC	0.507000													16	105					0	0	0.006122	0	0
TMEM106B	54664	broad.mit.edu	37	7	12254482	12254482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:12254482G>A	ENST00000396667.2	+	3	368	c.46G>A	c.(46-48)Gat>Aat	p.D16N	TMEM106B_ENST00000396668.3_Missense_Mutation_p.D16N	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	16						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAGCAAAGAAGATGCTTATGA	0.353000													11	31					0	0	0.010729	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119135106	119135106	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:119135106G>C	ENST00000264245.4	+	12	4862	c.4330G>C	c.(4330-4332)Gaa>Caa	p.E1444Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1444					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGGCAAATAGAATGATTTCG	0.463000													14	31					0	0	0.004990	0	0
SPTA1	6708	broad.mit.edu	37	1	158641186	158641186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:158641186G>A	ENST00000368148.3	-	12	1726	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q516*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	516					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q516K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATGCTTCTGAAGAAGGGCT	0.488000													9	36					0	0	0.006214	0	0
ABCD2	225	broad.mit.edu	37	12	39947792	39947792	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:39947792C>G	ENST00000308666.3	-	10	2280	c.2145G>C	c.(2143-2145)caG>caC	p.Q715H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	715					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CATTGAGTCTCTGCTGCATTT	0.343000													6	37					0	0	0.001168	0	0
YARS	8565	broad.mit.edu	37	1	33263435	33263435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:33263435C>T	ENST00000373477.4	-	5	1428	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	174					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AAATACTCTTCATCCAAAGCC	0.423000													13	31					0	0	0.002450	0	0
GPR124	25960	broad.mit.edu	37	8	37687368	37687368	+	Splice_Site	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:37687368G>T	ENST00000315215.7	+	6	917		c.e6-1		GPR124_ENST00000412232.2_Splice_Site			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCACCCTGCAGGGACTTGGGC	0.667000													11	39					5.50884e-06	5.78475e-06	0.013537	1	0
ACSS3	79611	broad.mit.edu	37	12	81613830	81613830	+	Silent	SNP	C	C	A	rs142377880		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:81613830C>A	ENST00000548058.1	+	11	2399	c.1489C>A	c.(1489-1491)Cgg>Agg	p.R497R	ACSS3_ENST00000261206.3_Silent_p.R496R|ACSS3_ENST00000548324.1_Silent_p.R179R			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	497						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACTGAAGGCTCGGTGTTTAGG	0.269000													7	48					4.68919e-08	4.96695e-08	0.008291	1	0
FAT4	79633	broad.mit.edu	37	4	126238052	126238052	+	Silent	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:126238052G>T	ENST00000394329.3	+	1	499	c.486G>T	c.(484-486)tcG>tcT	p.S162S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	162	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACCGACTCGGACATCGGCT	0.617000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0.00909568	0.00929441	0.009096	1	0
TRPM8	79054	broad.mit.edu	37	2	234888876	234888876	+	Silent	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:234888876G>T	ENST00000324695.4	+	18	2440	c.2400G>T	c.(2398-2400)gtG>gtT	p.V800V	TRPM8_ENST00000433712.2_Silent_p.V378V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	800						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTGGAATGTGATGGACACGC	0.408000													6	25					0.00198382	0.00203057	0.001984	1	0
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632000			"""F, N, Mis"""		"""MDS, CMML"""								8	31					0	0	0.004482	0	0
CD84	8832	broad.mit.edu	37	1	160535406	160535406	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:160535406G>A	ENST00000368054.3	-	2	211	c.176C>T	c.(175-177)tCt>tTt	p.S59F	CD84_ENST00000368051.3_Missense_Mutation_p.S59F|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.S59F|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Missense_Mutation_p.S59F	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	59					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAGCAACAGATGTTTTAGA	0.423000													36	111					0	0	0.004878	0	0
HDLBP	3069	broad.mit.edu	37	2	242194963	242194963	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:242194963C>G	ENST00000391975.1	-	8	1133	c.906G>C	c.(904-906)gtG>gtC	p.V302V	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.V302V|HDLBP_ENST00000391976.2_Silent_p.V302V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	302	KH 2.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGATTTCTTCACTTCCACTG	0.493000													20	74					0	0	0.012319	0	0
NCOR1	9611	broad.mit.edu	37	17	15942786	15942786	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:15942786C>T	ENST00000268712.3	-	44	7173	c.6916G>A	c.(6916-6918)Gag>Aag	p.E2306K	NCOR1_ENST00000395857.3_Missense_Mutation_p.E890K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2203K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2306	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTCGTGTCTCACCACTGGTC	0.483000													7	36					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	141259290	141259290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:141259290G>A	ENST00000389484.3	-	55	9787	c.8816C>T	c.(8815-8817)tCt>tTt	p.S2939F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2939	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGTCTTGAGAACATCCACT	0.388000										TSP Lung(27;0.18)			12	79					0	0	0.001855	0	0
ESYT1	23344	broad.mit.edu	37	12	56531676	56531676	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:56531676G>C	ENST00000394048.5	+	19	2440	c.2176G>C	c.(2176-2178)Gac>Cac	p.D726H	ESYT1_ENST00000541590.1_Missense_Mutation_p.D736H|ESYT1_ENST00000267113.4_Missense_Mutation_p.D736H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	726	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAAGGACTTGGACAAGGATGA	0.488000													18	53					0	0	0.006122	0	0
NBEA	26960	broad.mit.edu	37	13	35751193	35751193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:35751193C>T	ENST00000540320.1	+	28	5149	c.4615C>T	c.(4615-4617)Cag>Tag	p.Q1539*	NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q1539*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q1536*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q1539*			Q8NFP9	NBEA_HUMAN	neurobeachin	1539						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGACTTCTTCAGGATGTTGA	0.363000													3	8					0	0	0.009096	0	0
SGK3	23678	broad.mit.edu	37	8	67759505	67759505	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:67759505G>C	ENST00000396596.1	+	15	1366	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	SGK3_ENST00000522398.1_Silent_p.V384V|SGK3_ENST00000345714.4_Silent_p.V384V|C8orf44-SGK3_ENST00000519289.1_Silent_p.V384V|SGK3_ENST00000521198.2_Silent_p.V384V|SGK3_ENST00000520976.1_Silent_p.V352V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	384	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGCCAGGAGTGAGTCTTACAG	0.408000													46	56					0	0	0.011902	0	0
RFX2	5990	broad.mit.edu	37	19	6007164	6007164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6007164C>T	ENST00000303657.5	-	12	1410	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	RFX2_ENST00000359161.3_Missense_Mutation_p.E421K|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.E396K	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGCGCCCTCGGGGTCTTCG	0.667000													7	27					0	0	0.001984	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47582443	47582443	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:47582443G>C	ENST00000371917.4	+	8	942	c.942G>C	c.(940-942)gaG>gaC	p.E314D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	314					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGAACCTGAGAGAGTTCTAG	0.473000													14	67					0	0	0.001855	0	0
PML	5371	broad.mit.edu	37	15	74325651	74325651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:74325651C>T	ENST00000565898.1	+	5	1493	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	PML_ENST00000395132.2_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S470L|PML_ENST00000563500.1_Missense_Mutation_p.S470L|PML_ENST00000395135.3_Missense_Mutation_p.S518L|PML_ENST00000435786.2_Missense_Mutation_p.S518L|PML_ENST00000436891.3_Missense_Mutation_p.S518L|PML_ENST00000567543.1_Intron|PML_ENST00000569965.1_Missense_Mutation_p.S518L|PML_ENST00000569477.1_Missense_Mutation_p.S518L|PML_ENST00000268059.6_Missense_Mutation_p.S518L|PML_ENST00000564428.1_Missense_Mutation_p.S470L|PML_ENST00000268058.3_Missense_Mutation_p.S518L			P29590	PML_HUMAN	promyelocytic leukemia	518					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAGGCAGTCTCACCACCCCAC	0.657000			T	"""RARA, PAX5"""	"""APL, ALL"""								9	28					0	0	0.004482	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911314	100911314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100911314G>A	ENST00000328766.5	-	5	1714	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*	ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.Q421*|ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.Q421*	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	421						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATTGTCTCTTGATTGCATGAA	0.413000													20	68					0	0	0.002780	0	0
LSMEM1	286006	broad.mit.edu	37	7	112124970	112124970	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:112124970C>T	ENST00000312849.4	+	2	460	c.99C>T	c.(97-99)ctC>ctT	p.L33L	LSMEM1_ENST00000429049.1_Silent_p.L33L|LSMEM1_ENST00000439068.2_Silent_p.L33L	NM_182597.2	NP_872403.1			leucine-rich single-pass membrane protein 1																		AACTAAACCTCTGTCCAGCCG	0.478000													25	74					0	0	0.003954	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102549502	102549502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:102549502C>T	ENST00000334701.7	-	10	2271	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.V363M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.V542M	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	542					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GTGACTGACACTAAAGTCTTC	0.418000													22	77					0	0	0.012319	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6089666	6089666	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:6089666C>G	ENST00000199389.6	-	3	434	c.288G>C	c.(286-288)caG>caC	p.Q96H	EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	96					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	p.Q96H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TGATAAACGTCTGGCAAAGTA	0.318000													9	35					0	0	0.006214	0	0
CSPP1	79848	broad.mit.edu	37	8	68005835	68005835	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:68005835G>C	ENST00000262210.5	+	5	500	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	192						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGGTAAGGAAGAATCCAGTGA	0.338000													31	40					0	0	0.004878	0	0
HCN4	10021	broad.mit.edu	37	15	73615835	73615835	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:73615835C>A	ENST00000261917.3	-	8	3592	c.2599G>T	c.(2599-2601)Gcc>Tcc	p.A867S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	867					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCAGCGGGGGCAGAGAATCCA	0.692000													8	38					0.000157383	0.000163571	0.003080	1	0
CD1E	913	broad.mit.edu	37	1	158324275	158324275	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:158324275C>T	ENST00000368160.3	+	2	167	c.167C>T	c.(166-168)tCa>tTa	p.S56L	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.S56L|CD1E_ENST00000368163.3_Missense_Mutation_p.S56L|CD1E_ENST00000434258.1_Missense_Mutation_p.S54L|CD1E_ENST00000368155.3_Missense_Mutation_p.S56L|CD1E_ENST00000368167.3_Missense_Mutation_p.S56L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.S56L|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.S56L|CD1E_ENST00000464822.1_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	56					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGTGAGGGCTCAGGATGGCTG	0.567000													19	52					0	0	0.006122	0	0
ATP8A2	51761	broad.mit.edu	37	13	26125501	26125501	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:26125501G>C	ENST00000381655.2	+	11	1059	c.917G>C	c.(916-918)aGa>aCa	p.R306T	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R266T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	266					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTCTCAAGAGATCAAATGTT	0.507000													9	33					0	0	0.006214	0	0
DOK6	220164	broad.mit.edu	37	18	67365819	67365819	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:67365819G>C	ENST00000382713.5	+	5	779	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	197	IRS-type PTB.						insulin receptor binding	p.E197K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTCACGTTTGAGTCAGGAAG	0.478000													3	17					0	0	0.004672	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676182	25676182	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:25676182C>T	ENST00000382051.3	+	12	1439	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	SLC34A2_ENST00000504570.1_Silent_p.I462I|SLC34A2_ENST00000503434.1_Silent_p.I462I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	463					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTCCAACATCGGCACCACCA	0.592000			T	ROS1	NSCLC								15	58					0	0	0.003163	0	0
KCNS3	3790	broad.mit.edu	37	2	18113476	18113476	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:18113476C>G	ENST00000403915.1	+	3	1652	c.1201C>G	c.(1201-1203)Ccc>Gcc	p.P401A	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.P401A			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	401					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTGGCCCTTCCCATCACCAT	0.517000													20	48					0	0	0.010504	0	0
IRS4	8471	broad.mit.edu	37	X	107976960	107976960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:107976960G>A	ENST00000372129.2	-	1	2691	c.2615C>T	c.(2614-2616)tCa>tTa	p.S872L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	872						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTTTGAAGGTGATCCCCCATC	0.443000													58	201					0	0	0.014410	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702031	96702031	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:96702031G>C	ENST00000260682.6	+	3	426	c.414G>C	c.(412-414)aaG>aaC	p.K138N	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	138					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GGATGGGGAAGAGGAGCATTG	0.502000													16	68					0	0	0.004007	0	0
XYLT1	64131	broad.mit.edu	37	16	17235129	17235129	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:17235129C>G	ENST00000261381.6	-	7	1552	c.1468G>C	c.(1468-1470)Gat>Cat	p.D490H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	490					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAACCGCCATCCACGGCAATG	0.567000													38	102					0	0	0.003755	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625334	140625334	+	Missense_Mutation	SNP	G	G	A	rs2907300		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:140625334G>A	ENST00000231173.3	+	1	188	c.188G>A	c.(187-189)gGa>gAa	p.G63E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		63	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGAGCGGGGAGCCCGGGTA	0.552000													11	40					0	0	0.008291	0	0
DZIP3	9666	broad.mit.edu	37	3	108380811	108380811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:108380811C>T	ENST00000361582.3	+	20	2517	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q763*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	763					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTGCACTATCAGTGTGAAGT	0.373000													10	23					0	0	0.006214	0	0
NRSN1	140767	broad.mit.edu	37	6	24145891	24145891	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:24145891A>G	ENST00000378491.4	+	4	606	c.305A>G	c.(304-306)gAc>gGc	p.D102G		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	102					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GTGGTGGTCGACACACATGCT	0.527000													34	31					0	0	0.012213	0	0
CNDP2	55748	broad.mit.edu	37	18	72183552	72183552	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:72183552G>A	ENST00000324262.4	+	9	1309	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CNDP2_ENST00000579847.1_Silent_p.V331V|CNDP2_ENST00000324301.8_Silent_p.V247V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	331						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCAAGACCGTGATTCCCAGGA	0.597000													14	48					0	0	0.003163	0	0
CPNE7	27132	broad.mit.edu	37	16	89655212	89655212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:89655212G>A	ENST00000268720.5	+	12	1412	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	CPNE7_ENST00000319518.8_Missense_Mutation_p.D353N	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	428	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCAGGACTATGACAGGTGCGC	0.642000													13	26					0	0	0.004007	0	0
GABRA1	2554	broad.mit.edu	37	5	161322869	161322869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:161322869G>A	ENST00000428797.2	+	10	1409	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	GABRA1_ENST00000444819.1_Missense_Mutation_p.E352K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E352K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E352K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E352K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E352K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	352					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGTGGTTCCAGAAAAGGTAAA	0.393000													26	62					0	0	0.004656	0	0
PRPH2	5961	broad.mit.edu	37	6	42666224	42666224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:42666224G>A	ENST00000230381.5	-	3	1089	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	284					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTAGGTAGCGCAGCCCAATT	0.587000													11	21					0	0	0.002450	0	0
LILRB4	11006	broad.mit.edu	37	19	55179456	55179456	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:55179456C>G	ENST00000391736.1	+	14	1648	c.1333C>G	c.(1333-1335)Ctg>Gtg	p.L445V	LILRB4_ENST00000391734.3_Missense_Mutation_p.L392V|LILRB4_ENST00000430952.2_Missense_Mutation_p.L444V|LILRB4_ENST00000391733.3_Missense_Mutation_p.L446V|LILRB4_ENST00000270452.2_Missense_Mutation_p.L445V	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	445						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CTATGCCACTCTGGCCATCCA	0.597000													15	59					0	0	0.003163	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284041	33284041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:33284041G>A	ENST00000431845.2	-	2	804	c.653C>T	c.(652-654)tCa>tTa	p.S218L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S218L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGAGGAAGATGAGAAATCAGT	0.612000													6	39					0	0	0.001168	0	0
B4GALT2	8704	broad.mit.edu	37	1	44456097	44456097	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44456097C>T	ENST00000356836.6	+	7	1886	c.1096C>T	c.(1096-1098)Ccg>Tcg	p.P366S	B4GALT2_ENST00000434555.2_Missense_Mutation_p.P300S|B4GALT2_ENST00000372324.1_Missense_Mutation_p.P366S|B4GALT2_ENST00000309519.7_Missense_Mutation_p.P395S	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	366					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TGGGCGGCCTCCGTCGTGGCC	0.617000													26	99					0	0	0.004656	0	0
PI4KA	5297	broad.mit.edu	37	22	21104247	21104247	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:21104247C>T	ENST00000255882.6	-	28	3275	c.3189G>A	c.(3187-3189)atG>atA	p.M1063I	PI4KA_ENST00000572273.1_Missense_Mutation_p.M1005I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1005					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTGGAGGATCATCCCACAGC	0.527000													8	30					0	0	0.006214	0	0
HEG1	57493	broad.mit.edu	37	3	124731790	124731790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:124731790C>T	ENST00000311127.4	-	6	2700	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	878						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGCTGTTTTCCAGCTGTAGT	0.507000													21	72					0	0	0.012319	0	0
CACNA1D	776	broad.mit.edu	37	3	53834389	53834389	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:53834389C>T	ENST00000288139.3	+	42	5215	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	CACNA1D_ENST00000350061.5_Silent_p.F1679F|CACNA1D_ENST00000422281.2_Silent_p.F1664F|CACNA1D_ENST00000544977.1_Silent_p.F58F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1679					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGATGTGTTCAAAGTAATTA	0.468000													17	49					0	0	0.006122	0	0
C8orf34	116328	broad.mit.edu	37	8	69633646	69633646	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:69633646G>C	ENST00000337103.4	+	9	2637	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	C8orf34_ENST00000325233.3_Missense_Mutation_p.E118Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E460Q|C8orf34_ENST00000539993.1_Missense_Mutation_p.E374Q			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	374					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGACGAATTTGAGAAAGCATC	0.274000													12	20					0	0	0.007413	0	0
NANOG	79923	broad.mit.edu	37	12	7942253	7942253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:7942253G>C	ENST00000229307.4	+	1	262	c.43G>C	c.(43-45)Gaa>Caa	p.E15Q	NANOG_ENST00000526286.1_Missense_Mutation_p.E15Q	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	15					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GCCTTGCTTTGAAGCATCCGA	0.438000													9	105					0	0	0.013537	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555035	44555035	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:44555035C>G	ENST00000330682.2	-	1	1414	c.1179G>C	c.(1177-1179)tgG>tgC	p.W393C	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	393	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AATGAATCCTCCATAATTCAT	0.577000													7	221					0	0	0.008291	0	0
PTPRM	5797	broad.mit.edu	37	18	8370921	8370921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:8370921G>C	ENST00000332175.8	+	22	4086	c.3049G>C	c.(3049-3051)Gag>Cag	p.E1017Q	PTPRM_ENST00000400060.4_Missense_Mutation_p.E1031Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E804Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1030Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.E955Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1017	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGACACAGAGATATATAA	0.348000													9	74					0	0	0.004482	0	0
KCNK15	60598	broad.mit.edu	37	20	43379022	43379022	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:43379022C>G	ENST00000372861.3	+	2	667	c.536C>G	c.(535-537)tCg>tGg	p.S179W		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	179						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GTCGCCTTCTCGCACTTCGAG	0.677000													4	19					0	0	0.009096	0	0
HOXD10	3236	broad.mit.edu	37	2	176982029	176982029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:176982029G>C	ENST00000249501.4	+	1	723	c.468G>C	c.(466-468)caG>caC	p.Q156H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	156						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGAGTCAGACCTACGCCA	0.582000													16	107					0	0	0.004007	0	0
HOXC11	3227	broad.mit.edu	37	12	54367025	54367025	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:54367025G>A	ENST00000546378.1	+	0	116				HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_De_novo_Start_InFrame|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11						endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGAGGAGAACGATGTTTAACT	0.592000			T	NUP98	AML								8	20					0	0	0.004482	0	0
MAP1S	55201	broad.mit.edu	37	19	17835961	17835961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:17835961C>T	ENST00000324096.4	+	4	558	c.407C>T	c.(406-408)tCg>tTg	p.S136L	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.S110L	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	136	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGGGGCTTCTCGCCTCACCAC	0.612000													21	63					0	0	0.010504	0	0
ZNF136	7695	broad.mit.edu	37	19	12297854	12297854	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12297854G>C	ENST00000343979.4	+	4	801	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	ZNF136_ENST00000398616.2_Missense_Mutation_p.E155Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	221					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCACACTGGAGAGAAACCCTA	0.398000													17	33					0	0	0.004007	0	0
SPECC1L	23384	broad.mit.edu	37	22	24759250	24759250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:24759250C>T	ENST00000314328.9	+	12	3050	c.2765C>T	c.(2764-2766)tCa>tTa	p.S922L	KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S922L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S922L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	922					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAACATCTTCAGCCAGCCGG	0.413000													13	28					0	0	0.002450	0	0
MRPL41	64975	broad.mit.edu	37	9	140446891	140446891	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:140446891G>C	ENST00000371443.5	+	2	1146	c.358G>C	c.(358-360)Gag>Cag	p.E120Q		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	120					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GTACGGCTTCGAGCCCACACA	0.602000													11	23					0	0	0.010729	0	0
ARHGAP6	395	broad.mit.edu	37	X	11187648	11187648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:11187648C>T	ENST00000337414.4	-	9	2658	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E405K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E421K|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E393K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E393K|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E596K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E628K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	596	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCATAATTTTCAATCATCTTT	0.488000													14	45					0	0	0.002450	0	0
SLC23A1	9963	broad.mit.edu	37	5	138707763	138707763	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:138707763C>T	ENST00000353963.3	-	14	1779	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	SLC23A1_ENST00000348729.3_Missense_Mutation_p.D577N	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	577					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GCAATCTGATCTTTTGAACTT	0.398000													37	138					0	0	0.004289	0	0
SMCR8	140775	broad.mit.edu	37	17	18220060	18220060	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:18220060G>A	ENST00000406438.3	+	1	1437	c.957G>A	c.(955-957)ttG>ttA	p.L319L		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	319										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ACAAGAAGTTGAAGACCTTGG	0.493000													18	55					0	0	0.006122	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630388	43630388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:43630388C>T	ENST00000431635.2	-	9	1109	c.961G>A	c.(961-963)Gat>Aat	p.D321N	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.D266N	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	266					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATACATCATCATAGCTCTCC	0.502000													13	57					0	0	0.001855	0	0
EPS8L1	54869	broad.mit.edu	37	19	55591869	55591869	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:55591869G>C	ENST00000245618.5	+	1	110	c.8G>C	c.(7-9)aGa>aCa	p.R3T	EPS8L1_ENST00000201647.6_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R3T|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Intron	NM_017729.3	NP_060199.3	Q8TE68	ES8L1_HUMAN	EPS8-like 1	0						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GACATGAACAGAACATGGCCA	0.602000													4	18					0	0	0.001168	0	0
ERP44	23071	broad.mit.edu	37	9	102769866	102769866	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:102769866C>T	ENST00000262455.6	-	9	1067	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	290					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CTACCTTTTTCACTTATTAAT	0.338000													12	42					0	0	0.013537	0	0
SRPK2	6733	broad.mit.edu	37	7	104783666	104783666	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:104783666C>G	ENST00000357311.3	-	9	1063	c.892G>C	c.(892-894)Gaa>Caa	p.E298Q	SRPK2_ENST00000393651.3_Missense_Mutation_p.E309Q|SRPK2_ENST00000489828.1_Missense_Mutation_p.E298Q	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	298	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTTTCCTTTCAGCTTCTCGC	0.408000													18	81					0	0	0.014323	0	0
S100A2	6273	broad.mit.edu	37	1	153536239	153536239	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:153536239G>C	ENST00000368708.3	-	2	484	c.112C>G	c.(112-114)Ctg>Gtg	p.L38V	S100A2_ENST00000497140.1_Missense_Mutation_p.L5V|S100A2_ENST00000487430.2_Missense_Mutation_p.L38V|S100A2_ENST00000368709.1_Missense_Mutation_p.L38V|S100A2_ENST00000368707.4_Missense_Mutation_p.L38V|S100A2_ENST00000368710.1_Missense_Mutation_p.L38V	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	39	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTTGTGCAGAAGTTCCTTC	0.582000													16	43					0	0	0.006122	0	0
ABCA9	10350	broad.mit.edu	37	17	66972084	66972084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:66972084C>T	ENST00000340001.4	-	39	5058	c.4847G>A	c.(4846-4848)tGg>tAg	p.W1616*	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.W1578*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1616					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAGGAGTTTCCACTTCACCGA	0.408000													3	12					0	0	0.009096	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560858	44560858	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:44560858C>G	ENST00000332567.4	-	1	1130	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	260					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGTTTCCTCTCTTAAGCAG	0.597000													13	57					0	0	0.013537	0	0
CCDC27	148870	broad.mit.edu	37	1	3679939	3679939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:3679939G>A	ENST00000294600.2	+	7	1306	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	408	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGAGTCGTTTGAGGAGGAGCT	0.612000													4	26					0	0	0.000602	0	0
LPAL2	80350	broad.mit.edu	37	6	160906954	160906954	+	RNA	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:160906954C>G	ENST00000335388.5	-	0	742					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CTCGATAACTCTGTCCATTTC	0.458000													20	193					0	0	0.014323	0	0
GOT2	2806	broad.mit.edu	37	16	58757719	58757719	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58757719C>G	ENST00000245206.5	-	2	305	c.177G>C	c.(175-177)aaG>aaC	p.K59N	GOT2_ENST00000434819.2_Missense_Mutation_p.K59N|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	59					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAGATTCATCTTTTTGCTAT	0.493000													41	137					0	0	0.011902	0	0
PARP4	143	broad.mit.edu	37	13	25026704	25026704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:25026704C>T	ENST00000381989.3	-	24	2959	c.2854G>A	c.(2854-2856)Gac>Aac	p.D952N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	952	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTCCAGAAGTCTGTGTTCCCC	0.488000													20	62					0	0	0.014323	0	0
EML1	2009	broad.mit.edu	37	14	100405590	100405590	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:100405590G>C	ENST00000262233.6	+	21	2387	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	EML1_ENST00000334192.4_Missense_Mutation_p.E769Q|EML1_ENST00000327921.9_Missense_Mutation_p.E738Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	750						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCGGGCCCATGAGAAGAAACT	0.537000													4	33					0	0	0.009096	0	0
MEGF8	1954	broad.mit.edu	37	19	42875617	42875617	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:42875617G>C	ENST00000334370.4	+	40	7686	c.7051G>C	c.(7051-7053)Gac>Cac	p.D2351H	MEGF8_ENST00000251268.6_Missense_Mutation_p.D2418H|MEGF8_ENST00000378073.4_Intron	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2418						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGACCGTCGAGACTGCTACAA	0.627000													9	44					0	0	0.006214	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802101	34802101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:34802101C>G	ENST00000591619.1	+	10	2419	c.1633C>G	c.(1633-1635)Cta>Gta	p.L545V	KIAA1328_ENST00000280020.5_Missense_Mutation_p.L549V|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Intron			Q86T90	K1328_HUMAN	KIAA1328	549										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		ACTCAGTCCTCTAAAATCAAC	0.473000													5	5					0	0	0.000602	0	0
SETD7	80854	broad.mit.edu	37	4	140468192	140468192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:140468192C>T	ENST00000274031.3	-	2	688	c.52G>A	c.(52-54)Gat>Aat	p.D18N	SETD7_ENST00000506866.2_Missense_Mutation_p.D18N|SETD7_ENST00000406354.1_5'UTR|SETD7_ENST00000404104.3_Missense_Mutation_p.D18N	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	18					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AATCCGTCATCGTCCAGGTGC	0.522000													13	40					0	0	0.002450	0	0
B4GALT2	8704	broad.mit.edu	37	1	44456112	44456112	+	Silent	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44456112C>A	ENST00000356836.6	+	7	1901	c.1111C>A	c.(1111-1113)Cgg>Agg	p.R371R	B4GALT2_ENST00000434555.2_Silent_p.R305R|B4GALT2_ENST00000372324.1_Silent_p.R371R|B4GALT2_ENST00000309519.7_Silent_p.R400R	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	371					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GTGGCCCCCTCGGGGCTGACA	0.622000													16	81					0.000566183	0.000584447	0.004990	1	0
SLC25A47	283600	broad.mit.edu	37	14	100789775	100789775	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:100789775C>T	ENST00000361529.3	+	1	102	c.24C>T	c.(22-24)atC>atT	p.I8I	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	8					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CTGGAGCCATCGGAGGTAACA	0.627000													13	17					0	0	0.004990	0	0
SREBF1	6720	broad.mit.edu	37	17	17719301	17719301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:17719301C>G	ENST00000355815.4	-	13	2515	c.2346G>C	c.(2344-2346)caG>caC	p.Q782H	SREBF1_ENST00000395757.1_Missense_Mutation_p.Q498H|SREBF1_ENST00000261646.5_Missense_Mutation_p.Q752H|SREBF1_ENST00000338854.5_Missense_Mutation_p.Q752H	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	752					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGAGCCACTCTGTGCCAGGC	0.667000													5	43					0	0	0.000602	0	0
PTPRB	5787	broad.mit.edu	37	12	70983837	70983837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:70983837C>T	ENST00000334414.6	-	8	2001	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	PTPRB_ENST00000538708.1_Missense_Mutation_p.D435N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.D653N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D652N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D435N|PTPRB_ENST00000550857.1_Intron	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	435	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCCCGTGTCATCCATGACA	0.493000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	102					0	0	0.013537	0	0
TNR	7143	broad.mit.edu	37	1	175299264	175299264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:175299264C>A	ENST00000367674.1	-	21	4447	c.3739G>T	c.(3739-3741)Gag>Tag	p.E1247*	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Nonsense_Mutation_p.E1247*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1247	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E1247K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGCTGTCCTCGACAGAGAAC	0.587000													13	32					4.3838e-07	4.61933e-07	0.001855	1	0
SULT1E1	6783	broad.mit.edu	37	4	70710039	70710039	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:70710039T>C	ENST00000226444.3	-	7	724	c.612A>G	c.(610-612)atA>atG	p.I204M		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	204					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTATCAATTTTATCACCTCTT	0.343000													8	63					0	0	0.004482	0	0
MSRB3	253827	broad.mit.edu	37	12	65722331	65722331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:65722331C>T	ENST00000308259.5	+	4	485	c.211C>T	c.(211-213)Cac>Tac	p.H71Y	MSRB3_ENST00000535664.1_Missense_Mutation_p.H71Y|MSRB3_ENST00000540804.1_Missense_Mutation_p.H78Y|MSRB3_ENST00000355192.3_Missense_Mutation_p.H78Y	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	78					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ATACACACATCACAAAGATCC	0.299000													9	46					0	0	0.008291	0	0
LRRC42	115353	broad.mit.edu	37	1	54426051	54426051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:54426051G>A	ENST00000371370.3	+	5	1149	c.628G>A	c.(628-630)Gat>Aat	p.D210N	LRRC42_ENST00000319223.4_Missense_Mutation_p.D210N	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	210										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCACCTGAAGGATAATTGTTT	0.373000													32	62					0	0	0.012213	0	0
ESX1	80712	broad.mit.edu	37	X	103498857	103498857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:103498857G>A	ENST00000372588.4	-	2	567	c.484C>T	c.(484-486)Caa>Taa	p.Q162*		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	162					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCGGGATATTGAGATTCATCG	0.612000													22	70					0	0	0.003954	0	0
DOK6	220164	broad.mit.edu	37	18	67406304	67406304	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:67406304G>A	ENST00000382713.5	+	6	893	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	235	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGAGCAACATGAAAGATTAAT	0.448000													10	106					0	0	0.008291	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474786	20474786	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:20474786C>T	ENST00000375102.3	+	5	630	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	133					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ACCGTGGCTTCCTCAATGTCT	0.582000													8	44					0	0	0.004482	0	0
FXR2	9513	broad.mit.edu	37	17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	500						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617000													10	44					0	0	0.010729	0	0
PTPRF	5792	broad.mit.edu	37	1	44069731	44069731	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069731G>C	ENST00000359947.4	+	16	3248	c.2908G>C	c.(2908-2910)Gac>Cac	p.D970H	PTPRF_ENST00000438120.1_Missense_Mutation_p.D961H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.D961H|PTPRF_ENST00000372414.3_Missense_Mutation_p.D970H|PTPRF_ENST00000422171.2_Missense_Mutation_p.D318H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	970	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCACGACAGACACCCGCTT	0.597000													20	59					0	0	0.012319	0	0
AP3D1	8943	broad.mit.edu	37	19	2110821	2110821	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:2110821G>A	ENST00000355272.6	-	27	3266	c.3060C>T	c.(3058-3060)agC>agT	p.S1020S	AP3D1_ENST00000350812.6_Silent_p.S789S|AP3D1_ENST00000356926.4_Silent_p.S917S|AP3D1_ENST00000345016.5_Silent_p.S958S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	958					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGATGCTGCTGCTCCTGT	0.642000													8	36					0	0	0.004482	0	0
CETP	1071	broad.mit.edu	37	16	57016142	57016142	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:57016142C>T	ENST00000200676.3	+	14	1444	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	CETP_ENST00000379780.2_Silent_p.V378V|CETP_ENST00000566128.1_Silent_p.V373V	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	438					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						TCCCTGAGGTCATGTCTCGTA	0.597000													5	47					0	0	0.001984	0	0
ZNF208	7757	broad.mit.edu	37	19	22155770	22155770	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:22155770C>G	ENST00000397126.4	-	4	2214	c.2066G>C	c.(2065-2067)gGa>gCa	p.G689A	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTCCAGTATGAAT	0.383000													12	42					0	0	0.002450	0	0
LAMA3	3909	broad.mit.edu	37	18	21478998	21478998	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:21478998G>A	ENST00000313654.9	+	46	6046	c.5805G>A	c.(5803-5805)gtG>gtA	p.V1935V	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.V326V|LAMA3_ENST00000269217.6_Silent_p.V326V|LAMA3_ENST00000399516.3_Silent_p.V1935V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1935	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTGGATGTGAAGATTAAAA	0.318000													17	34					0	0	0.010504	0	0
DRD1	1812	broad.mit.edu	37	5	174869513	174869513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:174869513G>A	ENST00000393752.2	-	2	1582	c.590C>T	c.(589-591)tCa>tTa	p.S197L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	197					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TACAGAGGATGAGATGGCATA	0.502000													13	84					0	0	0.001855	0	0
WNK1	65125	broad.mit.edu	37	12	978248	978248	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:978248G>A	ENST00000537687.1	+	9	3999	c.3356G>A	c.(3355-3357)gGa>gAa	p.G1119E	WNK1_ENST00000530271.2_Missense_Mutation_p.G1204E|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.G418E|WNK1_ENST00000315939.6_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	857					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTTTCTTCAGGAGGATCTGCA	0.393000													35	266					0	0	0.004289	0	0
TUBB6	84617	broad.mit.edu	37	18	12324975	12324975	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:12324975G>A	ENST00000592683.1	+	4	333	c.287G>A	c.(286-288)gGa>gAa	p.G96E	TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000317702.5_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	96					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GCACATCATGGAATCACTTCA	0.557000													8	20					0	0	0.003080	0	0
AHNAK	79026	broad.mit.edu	37	11	62294428	62294428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62294428C>G	ENST00000378024.4	-	5	7735	c.7461G>C	c.(7459-7461)atG>atC	p.M2487I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2487					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTGATGTTCATATCTGGTA	0.478000													49	147					0	0	0.014410	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70958267	70958267	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:70958267G>A	ENST00000359655.4	+	9	1223	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	388	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGAAATTCGGGGATTAGAA	0.393000													21	84					0	0	0.010504	0	0
PCLO	27445	broad.mit.edu	37	7	82586178	82586178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:82586178C>T	ENST00000423517.2	-	5	4428	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1364E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1295					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						GGAAGAATATCCCGTGTCGCT	0.423000													6	24					0	0	0.001984	0	0
SREK1	140890	broad.mit.edu	37	5	65459693	65459693	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:65459693G>C	ENST00000334121.6	+	6	988	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.E161Q	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	161	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GGAGTTAGAAGAAGTAATGAA	0.368000													18	61					0	0	0.006122	0	0
RASA2	5922	broad.mit.edu	37	3	141272764	141272764	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:141272764C>T	ENST00000286364.3	+	6	628	c.593C>T	c.(592-594)tCt>tTt	p.S198F	RASA2_ENST00000452898.1_Missense_Mutation_p.S198F			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	198	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCAACAGTTTCTCTAGTGGGC	0.323000													21	63					0	0	0.012319	0	0
ZNF175	7728	broad.mit.edu	37	19	52091027	52091027	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:52091027G>A	ENST00000262259.2	+	5	1801	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	481					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ACAACTGTGGGAAATCCTTCA	0.448000													11	19					0	0	0.010729	0	0
HOOK2	29911	broad.mit.edu	37	19	12883482	12883482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12883482C>G	ENST00000264827.5	-	6	571	c.401G>C	c.(400-402)aGa>aCa	p.R134T	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R134T	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	134	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.R134I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGTCATGATTCTCTGGATGTG	0.582000													13	125					0	0	0.002450	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887362	9887362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:9887362G>A	ENST00000306084.6	+	2	1085	c.886G>A	c.(886-888)Gag>Aag	p.E296K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E229K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	296	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAGCCCAAGGAGGGTGACCT	0.602000													32	73					0	0	0.012213	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941518	37941518	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:37941518G>C	ENST00000373087.6	+	2	537	c.421G>C	c.(421-423)Gat>Cat	p.D141H		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	141					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGTCATCGATGGGAGCAA	0.592000													5	8					0	0	0.000602	0	0
FBXL17	64839	broad.mit.edu	37	5	107700445	107700445	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:107700445G>C	ENST00000542267.1	-	3	1774	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	FBXL17_ENST00000359660.5_Silent_p.L58L|FBXL17_ENST00000496714.1_Silent_p.L58L	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	456										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TTACCTGCTTGAGTCCTTCAT	0.343000													19	60					0	0	0.008871	0	0
DMD	1756	broad.mit.edu	37	X	31986604	31986604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:31986604G>T	ENST00000357033.4	-	45	6672	c.6466C>A	c.(6466-6468)Caa>Aaa	p.Q2156K	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.Q2152K|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2156					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACAACAGTTTGCCGCTGCCCA	0.393000													20	53					1.37657e-19	1.49456e-19	0.012319	1	0
SASH3	54440	broad.mit.edu	37	X	128926786	128926786	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:128926786G>A	ENST00000356892.3	+	6	889	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	259	SAM.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GACCCTGCATGAGCTGCTGGA	0.607000													13	15					0	0	0.013537	0	0
AHNAK	79026	broad.mit.edu	37	11	62291157	62291157	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62291157C>T	ENST00000378024.4	-	5	11006	c.10732G>A	c.(10732-10734)Gat>Aat	p.D3578N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3578					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGATATCAACCTCTGGC	0.468000													55	162					0	0	0.014410	0	0
ZNF44	51710	broad.mit.edu	37	19	12383859	12383859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12383859G>A	ENST00000356109.5	-	5	1473	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	ZNF44_ENST00000355684.5_Missense_Mutation_p.S404F	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TACACTAGGAGAATCAAAGGC	0.453000													10	42					0	0	0.008291	0	0
SAFB2	9667	broad.mit.edu	37	19	5622555	5622555	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:5622555C>G	ENST00000252542.4	-	1	436	c.172G>C	c.(172-174)Gag>Cag	p.E58Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	58	SAP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TTGAGCCGCTCCATCAGGACG	0.731000													8	12					0	0	0.003080	0	0
RP11-192H23.4	0	broad.mit.edu	37	17	26940613	26940613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:26940613C>T	ENST00000534850.1	-	2	200	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.E56K|SGK494_ENST00000301037.5_Missense_Mutation_p.E57K|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR																endometrium(2)|kidney(2)	4						CCCCGTAGTTCCCAGAGTTCT	0.582000											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	81					0	0	0.003080	0	0
P2RY10	27334	broad.mit.edu	37	X	78216233	78216233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:78216233C>G	ENST00000171757.2	+	4	496	c.216C>G	c.(214-216)ttC>ttG	p.F72L	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.F72L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	72						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCATTTTCATGATCAACC	0.458000													12	101					0	0	0.001855	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102472491	102472491	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:102472491C>T	ENST00000321521.9	+	4	939	c.366C>T	c.(364-366)atC>atT	p.I122I	PPIP5K2_ENST00000358359.3_Silent_p.I122I|PPIP5K2_ENST00000414217.1_Silent_p.I122I|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	122					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATTTGTAATCAATGACTTGA	0.338000													42	135					0	0	0.014410	0	0
GNL2	29889	broad.mit.edu	37	1	38040301	38040301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:38040301C>G	ENST00000373062.3	-	11	1365	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	423					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GCGAGCTTCTCAAGAAAGTCC	0.428000													18	28					0	0	0.010504	0	0
C1orf158	93190	broad.mit.edu	37	1	12819396	12819396	+	Missense_Mutation	SNP	G	G	C	rs148059585		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:12819396G>C	ENST00000288048.5	+	3	595	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	C1orf158_ENST00000376210.3_Missense_Mutation_p.E89Q	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	127										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCTGCCAGAGAAGTCTGA	0.522000													13	50					0	0	0.003163	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225488	26225488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:26225488G>A	ENST00000360408.1	+	1	106	c.106G>A	c.(106-108)Gtg>Atg	p.V36M		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	36					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CACGGGCGGCGTGAAGAAGCC	0.622000													31	24					0	0	0.007291	0	0
CYB561	1534	broad.mit.edu	37	17	61512584	61512584	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:61512584G>A	ENST00000584031.1	-	5	772	c.473C>T	c.(472-474)tCt>tTt	p.S158F	CYB561_ENST00000392975.2_Silent_p.F142F|CYB561_ENST00000582997.1_Silent_p.F149F|CYB561_ENST00000582297.1_Silent_p.F142F|CYB561_ENST00000582034.1_Silent_p.F113F|CYB561_ENST00000581573.1_Silent_p.F142F|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000542042.1_Silent_p.F209F|CYB561_ENST00000448884.2_Intron|CYB561_ENST00000392976.1_Silent_p.F142F|CYB561_ENST00000360793.3_Silent_p.F142F			P49447	CY561_HUMAN	cytochrome b561	0	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGAACAGGAAGAAGCTGAAGC	0.642000													11	43					0	0	0.013537	0	0
ZNF345	25850	broad.mit.edu	37	19	37368436	37368436	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:37368436G>C	ENST00000529555.1	+	2	1492	c.704G>C	c.(703-705)tGt>tCt	p.C235S	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C235S|ZNF345_ENST00000420450.1_Missense_Mutation_p.C235S|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	235					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCAAAGCATGTGGAATGGCC	0.418000													19	57					0	0	0.007413	0	0
COPA	1314	broad.mit.edu	37	1	160281696	160281696	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:160281696G>A	ENST00000241704.7	-	11	1267	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	COPA_ENST00000368069.3_Silent_p.F346F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	346					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGAGCTGTTGAAATCCAGCT	0.473000													6	28					0	0	0.001168	0	0
ADCY6	112	broad.mit.edu	37	12	49171950	49171950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:49171950G>C	ENST00000307885.4	-	2	1649	c.955C>G	c.(955-957)Cag>Gag	p.Q319E	ADCY6_ENST00000550422.1_Missense_Mutation_p.Q319E|ADCY6_ENST00000357869.3_Missense_Mutation_p.Q319E	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	319					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						CGGGTCTCCTGAAAGGCCTGG	0.632000													5	18					0	0	0.000602	0	0
TPRA1	131601	broad.mit.edu	37	3	127298673	127298673	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:127298673G>A	ENST00000355552.3	-	3	544	c.168C>T	c.(166-168)ctC>ctT	p.L56L	TPRA1_ENST00000296210.7_Silent_p.L56L|TPRA1_ENST00000489960.1_Silent_p.L56L|TPRA1_ENST00000450633.2_Silent_p.L56L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	56					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						AGATGAGGAAGAGCACATTGG	0.582000													4	43					0	0	0.009096	0	0
KLC1	3831	broad.mit.edu	37	14	104129155	104129155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:104129155G>A	ENST00000389744.4	+	5	957	c.688G>A	c.(688-690)Gag>Aag	p.E230K	KLC1_ENST00000557450.1_Missense_Mutation_p.E230K|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.E402K|KLC1_ENST00000380038.3_Missense_Mutation_p.E230K|KLC1_ENST00000554280.1_Missense_Mutation_p.E230K|KLC1_ENST00000555836.1_Missense_Mutation_p.E230K|KLC1_ENST00000452929.2_Missense_Mutation_p.E230K|KLC1_ENST00000347839.6_Missense_Mutation_p.E230K|KLC1_ENST00000557575.1_Missense_Mutation_p.E230K|KLC1_ENST00000348520.6_Missense_Mutation_p.E230K|KLC1_ENST00000334553.6_Missense_Mutation_p.E230K|KLC1_ENST00000246489.7_Missense_Mutation_p.E230K|KLC1_ENST00000445352.4_Missense_Mutation_p.E230K|KLC1_ENST00000553286.1_Missense_Mutation_p.E230K			Q07866	KLC1_HUMAN	kinesin light chain 1	230					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GGGGCGCTACGAGGTAGCTGT	0.672000													9	19					0	0	0.006214	0	0
PGK2	5232	broad.mit.edu	37	6	49754450	49754450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:49754450G>A	ENST00000304801.3	-	1	603	c.451C>T	c.(451-453)Cga>Tga	p.R151*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	151					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGTGATGCTCGGAAGGCTTCT	0.502000													20	52					0	0	0.002780	0	0
EIF3G	8666	broad.mit.edu	37	19	10226442	10226442	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:10226442G>T	ENST00000253108.4	-	9	800	c.758C>A	c.(757-759)aCc>aAc	p.T253N		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	253	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTGCAGGTCGGTCTCACGCGT	0.632000													17	57					2.94398e-08	3.12927e-08	0.007413	1	0
EIF4G1	1981	broad.mit.edu	37	3	184039824	184039824	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184039824C>T	ENST00000342981.4	+	9	1866	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	EIF4G1_ENST00000414031.1_Silent_p.L444L|EIF4G1_ENST00000352767.3_Silent_p.L491L|EIF4G1_ENST00000424196.1_Silent_p.L491L|EIF4G1_ENST00000319274.6_Silent_p.L484L|EIF4G1_ENST00000435046.2_Silent_p.L288L|EIF4G1_ENST00000411531.1_Silent_p.L444L|EIF4G1_ENST00000350481.5_Silent_p.L320L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Silent_p.L484L|EIF4G1_ENST00000382330.3_Silent_p.L491L|EIF4G1_ENST00000427845.1_Silent_p.L397L|EIF4G1_ENST00000392537.2_Silent_p.L397L|EIF4G1_ENST00000434061.2_Silent_p.L288L|EIF4G1_ENST00000441154.1_Silent_p.L320L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	484					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAACTGCTCCCCCCAGAGA	0.537000													18	49					0	0	0.010504	0	0
ERF	2077	broad.mit.edu	37	19	42753748	42753748	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:42753748G>A	ENST00000222329.4	-	4	673	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ERF_ENST00000440177.2_Silent_p.L97L|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	172					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGCCGAGAAGAGGGAAGATG	0.657000													13	58					0	0	0.002450	0	0
DRD2	1813	broad.mit.edu	37	11	113281596	113281596	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:113281596C>T	ENST00000362072.3	-	8	1529	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	DRD2_ENST00000538967.1_Silent_p.L397L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Silent_p.L397L|DRD2_ENST00000346454.3_Silent_p.L366L|DRD2_ENST00000542968.1_Silent_p.L395L|DRD2_ENST00000544518.1_Silent_p.L394L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	395					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGTGTATGTTCAGGATGTGTG	0.602000													12	42					0	0	0.002450	0	0
ARPC1B	10095	broad.mit.edu	37	7	98992106	98992106	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:98992106C>G	ENST00000451682.1	+	12	1422	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	PDAP1_ENST00000496335.1_Intron|ARPC1B_ENST00000252725.5_Missense_Mutation_p.I371M			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	371					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCAAGATCAAATGACCTG	0.572000													15	52					0	0	0.004990	0	0
ZNF609	23060	broad.mit.edu	37	15	64791723	64791723	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:64791723C>T	ENST00000326648.3	+	1	233	c.105C>T	c.(103-105)atC>atT	p.I35I	ZNF609_ENST00000416172.1_Silent_p.I35I	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	35						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAATCTCATCATTGACCTGG	0.547000													16	61					0	0	0.004990	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538827	23538827	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:23538827G>C	ENST00000380871.4	-	2	649	c.612C>G	c.(610-612)gcC>gcG	p.A204A	NKX3-1_ENST00000523261.1_Silent_p.A129A	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	204					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CCCGGGAGAAGGCCTCCTCTT	0.562000													4	44					0	0	0.009096	0	0
GRIA1	2890	broad.mit.edu	37	5	153026577	153026577	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:153026577C>T	ENST00000285900.5	+	3	653	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.L104F|GRIA1_ENST00000518783.1_Missense_Mutation_p.L114F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L114F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L35F|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	104					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGTGGGGCCCTCCACGTCTG	0.498000													29	82					0	0	0.008361	0	0
KRT74	121391	broad.mit.edu	37	12	52967185	52967185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:52967185T>C	ENST00000549343.1	-	1	415	c.377A>G	c.(376-378)aAc>aGc	p.N126S	KRT74_ENST00000305620.2_Missense_Mutation_p.N126S			Q7RTS7	K2C74_HUMAN	keratin 74	126	Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCTCCACGTTGAGGGGGGC	0.597000													26	65					0	0	0.006320	0	0
C1orf173	127254	broad.mit.edu	37	1	75055435	75055435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:75055435C>T	ENST00000326665.5	-	12	2274	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	C1orf173_ENST00000420661.2_Missense_Mutation_p.E489K|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	686	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCGGACTTCTCAGATAAACCC	0.443000													16	102					0	0	0.003163	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039888	184039888	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184039888C>G	ENST00000342981.4	+	9	1930	c.1516C>G	c.(1516-1518)Caa>Gaa	p.Q506E	EIF4G1_ENST00000414031.1_Missense_Mutation_p.Q466E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.Q513E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.Q513E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.Q506E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.Q310E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.Q466E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.Q342E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.Q506E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.Q513E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.Q419E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.Q419E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.Q310E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.Q342E	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	506					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCAGCCACTCAAGGTAAGGT	0.547000													14	55					0	0	0.006122	0	0
RGS12	6002	broad.mit.edu	37	4	3317944	3317944	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:3317944C>T	ENST00000336727.3	+	2	951	c.47C>T	c.(46-48)tCg>tTg	p.S16L	RGS12_ENST00000344733.5_Missense_Mutation_p.S16L|RGS12_ENST00000543385.1_Missense_Mutation_p.S16L|RGS12_ENST00000382788.3_Missense_Mutation_p.S16L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	16						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGGCCGTCGCCCCCAAGG	0.607000													25	94					0	0	0.007291	0	0
RASA3	22821	broad.mit.edu	37	13	114781703	114781703	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:114781703C>T	ENST00000334062.7	-	13	1372	c.1251G>A	c.(1249-1251)ttG>ttA	p.L417L	RASA3_ENST00000389544.4_Silent_p.L385L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	417	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.L417L(1)|p.L417F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCCGTCTTTCAACTTCACAG	0.517000													10	44					0	0	0.010729	0	0
SMPD4	55627	broad.mit.edu	37	2	130911298	130911298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:130911298C>T	ENST00000409031.1	-	17	3135	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	SMPD4_ENST00000453750.1_Missense_Mutation_p.E412K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E299K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E634K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E561K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E404K|SMPD4_ENST00000443958.2_Missense_Mutation_p.E327K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E521K	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	624					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGCAGGTACTCCAGGGCCTTC	0.597000													6	45					0	0	0.004482	0	0
LRRC36	55282	broad.mit.edu	37	16	67405069	67405069	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:67405069G>C	ENST00000329956.6	+	9	1437	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	LRRC36_ENST00000563189.1_Missense_Mutation_p.R352T|LRRC36_ENST00000435835.3_Missense_Mutation_p.R352T|LRRC36_ENST00000290940.7_Missense_Mutation_p.R205T|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	473										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CCATCGAAGAGAGGATTCAAA	0.468000													23	90					0	0	0.002780	0	0
TTC16	158248	broad.mit.edu	37	9	130486622	130486622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:130486622G>A	ENST00000373289.3	+	8	1176	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.G190R	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	366							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCAGGAGAAAGGACTCTACAT	0.662000													6	23					0	0	0.001984	0	0
ZNF678	339500	broad.mit.edu	37	1	227842557	227842557	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:227842557T>G	ENST00000343776.4	+	4	951	c.606T>G	c.(604-606)atT>atG	p.I202M	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.I257M			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	257					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATAAGAAAATTCATAGTGGAG	0.368000													39	116					0	0	0.009718	0	0
IRAK2	3656	broad.mit.edu	37	3	10264469	10264469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:10264469G>A	ENST00000256458.4	+	9	1253	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	388	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GATTTCATCCGGGTGGGGCAG	0.527000													22	72					0	0	0.004656	0	0
RPN2	6185	broad.mit.edu	37	20	35827507	35827507	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:35827507T>A	ENST00000237530.6	+	4	669	c.358T>A	c.(358-360)Tca>Aca	p.S120T	RPN2_ENST00000373622.5_Missense_Mutation_p.S88T	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	120					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGTGAGGACTCATCTGTTAC	0.478000													22	69					0	0	0.010504	0	0
TRUB2	26995	broad.mit.edu	37	9	131084583	131084583	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:131084583C>G	ENST00000372890.4	-	1	438	c.105G>C	c.(103-105)ctG>ctC	p.L35L	TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	35					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.L35L(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ACTCACCCTTCAGAAGTTGTA	0.562000													7	62					0	0	0.003080	0	0
PLXND1	23129	broad.mit.edu	37	3	129324855	129324855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:129324855C>T	ENST00000393239.1	-	1	806	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	PLXND1_ENST00000324093.4_Missense_Mutation_p.G210S			Q9Y4D7	PLXD1_HUMAN	plexin D1	210	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TACGTGGCGCCCACGAGCAGG	0.711000													3	12					0	0	0.004672	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256444	9256444	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:9256444C>G	ENST00000383440.2	+	8	3367	c.3110C>G	c.(3109-3111)tCa>tGa	p.S1037*	ANKRD12_ENST00000262126.3_Nonsense_Mutation_p.S1060*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.S1037*	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1060						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCACCAGCATCAAAAGATACC	0.333000													24	106					0	0	0.005443	0	0
C14orf166B	145497	broad.mit.edu	37	14	77319682	77319682	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:77319682G>C	ENST00000393774.3	+	9	1061	c.937G>C	c.(937-939)Gac>Cac	p.D313H		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	313										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CGGTGGCAATGACATCGGCAA	0.532000													12	36					0	0	0.010729	0	0
CCDC40	55036	broad.mit.edu	37	17	78063659	78063659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:78063659G>A	ENST00000397545.4	+	17	2835	c.2808G>A	c.(2806-2808)atG>atA	p.M936I	CCDC40_ENST00000374877.3_Missense_Mutation_p.M936I|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	936					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.M936N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCGGGCCATGAAGGGCGAGA	0.582000													6	29					0	0	0.001984	0	0
HK2	3099	broad.mit.edu	37	2	75100416	75100416	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:75100416C>G	ENST00000290573.2	+	5	1109	c.509C>G	c.(508-510)tCa>tGa	p.S170*	HK2_ENST00000409174.1_Nonsense_Mutation_p.S142*	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	170	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTCCTGGTCTCATGGACCAAG	0.522000													17	94					0	0	0.007413	0	0
TMEM252	169693	broad.mit.edu	37	9	71152191	71152191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:71152191C>T	ENST00000377311.3	-	2	549	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_153237.1	NP_694969.1			transmembrane protein 252																		CTCTTGGCCTCGCCTCTGGGC	0.562000													4	41					0	0	0.000602	0	0
GABRA1	2554	broad.mit.edu	37	5	161324342	161324342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:161324342C>A	ENST00000428797.2	+	11	1640	c.1285C>A	c.(1285-1287)Ctg>Atg	p.L429M	GABRA1_ENST00000444819.1_Missense_Mutation_p.L429M|GABRA1_ENST00000420560.1_Missense_Mutation_p.L429M|GABRA1_ENST00000437025.2_Missense_Mutation_p.L429M|GABRA1_ENST00000393943.4_Missense_Mutation_p.L429M|GABRA1_ENST00000023897.6_Missense_Mutation_p.L429M	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	429					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGCCTTCCCGCTGCTATTTGG	0.428000													24	101					7.87624e-14	8.47568e-14	0.002780	1	0
L2HGDH	79944	broad.mit.edu	37	14	50734600	50734600	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:50734600C>T	ENST00000267436.4	-	8	1332	c.935G>A	c.(934-936)gGa>gAa	p.G312E	L2HGDH_ENST00000261699.4_Missense_Mutation_p.G312E|L2HGDH_ENST00000421284.3_Missense_Mutation_p.G312E			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	312					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GAAGTGAACTCCTAGGAAAGG	0.423000													27	65					0	0	0.007291	0	0
SNTB1	6641	broad.mit.edu	37	8	121823703	121823703	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:121823703G>C	ENST00000395601.3	-	2	795	c.381C>G	c.(379-381)atC>atG	p.I127M	SNTB1_ENST00000517992.1_Missense_Mutation_p.I127M|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	127	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGCCCCCCTTGATGCTGATCC	0.632000													10	20					0	0	0.010729	0	0
MTF1	4520	broad.mit.edu	37	1	38323027	38323027	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:38323027G>C	ENST00000373036.4	-	2	444	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	102						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAATGAATCTGATCTGGTGAG	0.453000													19	63					0	0	0.008871	0	0
CKMT1B	1159	broad.mit.edu	37	15	43891383	43891383	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:43891383G>C	ENST00000300283.6	+	10	1558	c.1166G>C	c.(1165-1167)gGa>gCa	p.G389A	CKMT1B_ENST00000441322.1_Missense_Mutation_p.G389A	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	389	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCATCGATGGAGTAAACTAT	0.488000													55	119					0	0	0.014410	0	0
TARDBP	23435	broad.mit.edu	37	1	11077026	11077026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:11077026G>A	ENST00000240185.3	+	3	478	c.364G>A	c.(364-366)Gag>Aag	p.E122K	TARDBP_ENST00000315091.3_Missense_Mutation_p.E122K|TARDBP_ENST00000439080.2_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	122	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGACCTGAAAGAGTATTTTAG	0.383000													21	78					0	0	0.012319	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415084	210415084	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:210415084G>A	ENST00000367012.3	+	4	703	c.473G>A	c.(472-474)gGc>gAc	p.G158D	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	158							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TCTTTCAATGGCACCTCTGCC	0.453000													42	97					0	0	0.006999	0	0
DKK3	27122	broad.mit.edu	37	11	11988594	11988594	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:11988594G>A	ENST00000396505.2	-	6	818	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.H166Y|DKK3_ENST00000326932.4_Missense_Mutation_p.H194Y|DKK3_ENST00000525493.1_Missense_Mutation_p.H194Y	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	194	DKK-type Cys-1.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TTGGTGCAGTGACCCCAGACA	0.622000											OREG0020766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	41					0	0	0.006122	0	0
INPP5D	3635	broad.mit.edu	37	2	234104054	234104054	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:234104054A>G	ENST00000359570.5	+	26	2570	c.2570A>G	c.(2569-2571)aAg>aGg	p.K857R	INPP5D_ENST00000450745.1_Missense_Mutation_p.K621R|INPP5D_ENST00000455936.2_Missense_Mutation_p.K621R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	869					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GACTTTGTGAAGACGGAGCGT	0.562000													15	50					0	0	0.002450	0	0
DDX24	57062	broad.mit.edu	37	14	94528623	94528623	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:94528623C>G	ENST00000330836.5	-	3	1194	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	DDX24_ENST00000555054.1_Missense_Mutation_p.E312Q|DDX24_ENST00000544005.1_Missense_Mutation_p.E105Q	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	355	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCCTCATTCTCATTCTGTTTG	0.483000													23	70					0	0	0.002780	0	0
GEMIN4	50628	broad.mit.edu	37	17	649539	649539	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:649539G>C	ENST00000576778.1	-	1	3052	c.1711C>G	c.(1711-1713)Ctc>Gtc	p.L571V	GEMIN4_ENST00000319004.5_Missense_Mutation_p.L582V			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	582					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGGCAGTGAGAATCTGGGCC	0.547000													16	41					0	0	0.004007	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646576	48646576	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:48646576G>C	ENST00000352832.5	+	3	777	c.405G>C	c.(403-405)aaG>aaC	p.K135N	CACNA1G_ENST00000507510.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K135N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K135N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K135N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	135					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTGGTGAAGATGGTGGCCT	0.527000													9	32					0	0	0.004482	0	0
ZNF418	147686	broad.mit.edu	37	19	58439254	58439254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:58439254C>T	ENST00000396147.1	-	4	586	c.295G>A	c.(295-297)Gat>Aat	p.D99N	ZNF418_ENST00000595830.1_Missense_Mutation_p.D99N|ZNF418_ENST00000599852.1_Missense_Mutation_p.D14N|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.D120N	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCCTGATGATCTGCCAAGTGC	0.512000													21	92					0	0	0.003330	0	0
AHNAK	79026	broad.mit.edu	37	11	62286412	62286412	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62286412C>G	ENST00000378024.4	-	5	15751	c.15477G>C	c.(15475-15477)ctG>ctC	p.L5159L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5159					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCTTTCAGGTCACCCT	0.522000													9	44					0	0	0.006214	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102455173	102455173	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:102455173G>C	ENST00000360184.4	+	10	3016	c.2852G>C	c.(2851-2853)gGa>gCa	p.G951A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	951	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGCCTGGTGGAGAGCCAAAG	0.428000													11	30					0	0	0.010729	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598239	81598239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:81598239C>T	ENST00000356860.3	-	29	2697	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E799K|CACNA2D1_ENST00000535308.1_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	799						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATATATATTTCTACAGCTTTG	0.269000													16	76					0	0	0.004990	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766385	77766385	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:77766385G>A	ENST00000521891.2	+	10	7676	c.7228G>A	c.(7228-7230)Gca>Aca	p.A2410T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2365T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2365T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2384T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2365	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A2394T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAATATCCCGCAGAAAAGCC	0.567000										HNSCC(33;0.089)			3	12					0	0	0.004672	0	0
SI	6476	broad.mit.edu	37	3	164733862	164733862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:164733862G>A	ENST00000264382.3	-	32	3828	c.3766C>T	c.(3766-3768)Cag>Tag	p.Q1256*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGTGTACTGAACATCCTGA	0.333000										HNSCC(35;0.089)			24	75					0	0	0.006320	0	0
TTC18	118491	broad.mit.edu	37	10	75051064	75051064	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:75051064C>G	ENST00000310715.3	-	20	2489	c.2369G>C	c.(2368-2370)aGa>aCa	p.R790T	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.R259T|TTC18_ENST00000401621.2_Missense_Mutation_p.R790T|TTC18_ENST00000394865.1_Missense_Mutation_p.R790T	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	790							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCTCTTCCCTCTTTCCTCAGT	0.493000													23	121					0	0	0.002780	0	0
EXPH5	23086	broad.mit.edu	37	11	108384448	108384448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:108384448C>T	ENST00000265843.4	-	6	1896	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.E520K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E589K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E408K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	596					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTACCAACTCACTAGATTTG	0.418000													6	85					0	0	0.001984	0	0
P2RX4	5025	broad.mit.edu	37	12	121670850	121670850	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:121670850C>G	ENST00000337233.4	+	11	1403	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L	P2RX4_ENST00000543171.1_Silent_p.L264L|P2RX4_ENST00000359949.7_Silent_p.L381L	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	365					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAAAAGACTCTACTATCGGG	0.512000													18	202					0	0	0.006122	0	0
PGM2L1	283209	broad.mit.edu	37	11	74056565	74056565	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:74056565G>C	ENST00000298198.4	-	9	1478	c.1167C>G	c.(1165-1167)gtC>gtG	p.V389V		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	389					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTTTAGAAGAGACTGTGGTGG	0.333000													10	52					0	0	0.008291	0	0
ABCB1	5243	broad.mit.edu	37	7	87179592	87179592	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:87179592C>G	ENST00000265724.3	-	13	1662	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	ABCB1_ENST00000543898.1_Silent_p.L351L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	415	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCTGCACCTTCAGGTTCAGAC	0.502000													8	35					0	0	0.003080	0	0
LTB	4050	broad.mit.edu	37	6	31548552	31548552	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31548552G>A	ENST00000429299.2	-	4	676	c.669C>T	c.(667-669)atC>atT	p.I223I	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	223					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CGGGGTGACTGATGTTGACGT	0.622000													6	22					0	0	0.003080	0	0
NMT1	4836	broad.mit.edu	37	17	43159090	43159090	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43159090G>A	ENST00000592782.1	+	3	341	c.210G>A	c.(208-210)gaG>gaA	p.E70E	NMT1_ENST00000258960.2_Silent_p.E70E|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	70					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				aaGGCAGTGAGACAGATTCAG	0.383000													5	7					0	0	0.000602	0	0
OLFM1	10439	broad.mit.edu	37	9	137990304	137990304	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:137990304G>C	ENST00000252854.4	+	4	762	c.575G>C	c.(574-576)aGa>aCa	p.R192T	OLFM1_ENST00000371796.3_Missense_Mutation_p.R183T|OLFM1_ENST00000371793.3_Missense_Mutation_p.R210T	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	210					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTTCAGAGCAGAGTGTCCAAT	0.527000													15	56					0	0	0.006122	0	0
TMEM141	85014	broad.mit.edu	37	9	139686222	139686222	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:139686222C>T	ENST00000290079.8	+	2	130	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TMEM141_ENST00000465017.1_3'UTR	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	38						integral to membrane				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		TTTTCACCTTCGTCACAGGTA	0.672000											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	49					0	0	0.003755	0	0
SYTL5	94122	broad.mit.edu	37	X	37969686	37969686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:37969686C>T	ENST00000357972.5	+	13	2093	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S516L|SYTL5_ENST00000456733.2_Missense_Mutation_p.S538L			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	516					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTTTTGACTCATGGAACTTT	0.438000													18	113					0	0	0.008871	0	0
FAM83B	222584	broad.mit.edu	37	6	54806332	54806332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:54806332C>G	ENST00000306858.7	+	5	2679	c.2563C>G	c.(2563-2565)Caa>Gaa	p.Q855E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	855										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGCCCATCTCAAGAGATAAA	0.438000													7	34					0	0	0.004482	0	0
FAM20B	9917	broad.mit.edu	37	1	179041145	179041145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:179041145G>A	ENST00000263733.4	+	8	1432	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	366						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CATCTCCCCAGTGCTCTCTGA	0.557000													35	89					0	0	0.005524	0	0
FBXO21	23014	broad.mit.edu	37	12	117603392	117603392	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:117603392C>T	ENST00000427718.2	-	9	1298	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	FBXO21_ENST00000330622.5_Silent_p.L408L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	408					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.L408L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCGAGTCTCTCAGGAGCTGGT	0.507000													7	59					0	0	0.001984	0	0
PRPS2	5634	broad.mit.edu	37	X	12837668	12837668	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:12837668G>C	ENST00000380668.5	+	5	701	c.573G>C	c.(571-573)ttG>ttC	p.L191F	PRPS2_ENST00000398491.2_Missense_Mutation_p.L194F	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	191					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AATTTGCTTTGATCCACAAAG	0.488000													36	120					0	0	0.013726	0	0
HTRA2	27429	broad.mit.edu	37	2	74757169	74757169	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:74757169G>C	ENST00000258080.3	+	1	666	c.36G>C	c.(34-36)tgG>tgC	p.W12C	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Missense_Mutation_p.W12C	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	12					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GTGCAGGCTGGAGCCTTCGGG	0.716000													10	39					0	0	0.008291	0	0
DLL3	10683	broad.mit.edu	37	19	39989650	39989650	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:39989650G>A	ENST00000205143.4	+	1	43	c.36G>A	c.(34-36)caG>caA	p.Q12Q	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Silent_p.Q12Q	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	12					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCTCTCCCAGACTGTGATCC	0.617000													22	79					0	0	0.003330	0	0
MEDAG	84935	broad.mit.edu	37	13	31495235	31495235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:31495235C>T	ENST00000380482.4	+	3	798	c.473C>T	c.(472-474)tCa>tTa	p.S158L	TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		GTCATCTCCTCAGTGATTGGA	0.483000													4	22					0	0	0.000602	0	0
FCHSD2	9873	broad.mit.edu	37	11	72600885	72600885	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:72600885G>A	ENST00000409314.1	-	12	1270	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	FCHSD2_ENST00000311172.7_Missense_Mutation_p.H288Y|FCHSD2_ENST00000409418.4_Missense_Mutation_p.H344Y|FCHSD2_ENST00000409853.1_Missense_Mutation_p.H288Y|FCHSD2_ENST00000458644.2_Missense_Mutation_p.H208Y			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	344							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CGTTGTTGGTGAACAATGTTT	0.393000													7	12					0	0	0.001984	0	0
CSDE1	7812	broad.mit.edu	37	1	115282405	115282405	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:115282405G>T	ENST00000438362.2	-	3	623	c.245C>A	c.(244-246)tCt>tAt	p.S82Y	CSDE1_ENST00000534699.1_Missense_Mutation_p.S36Y|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000369530.1_Missense_Mutation_p.S82Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.S36Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.S36Y|CSDE1_ENST00000358528.4_Missense_Mutation_p.S36Y	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	36	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATCCGTAAGAGGTTAACAG	0.408000													97	258					7.47877e-49	8.16354e-49	0.014410	1	0
UPP1	7378	broad.mit.edu	37	7	48147942	48147942	+	Silent	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:48147942G>T	ENST00000331803.4	+	10	1544	c.921G>T	c.(919-921)ctG>ctT	p.L307L	UPP1_ENST00000395564.4_Silent_p.L307L|UPP1_ENST00000429491.2_Silent_p.L170L|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.L307L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	307					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AGAAGAAACTGAGCAAGGCCT	0.567000													11	30					0.000673444	0.000692816	0.008291	1	0
LPAR4	2846	broad.mit.edu	37	X	78010707	78010707	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:78010707C>G	ENST00000435339.2	+	2	746	c.341C>G	c.(340-342)tCt>tGt	p.S114C	LPAR4_ENST00000373301.2_Missense_Mutation_p.S114C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	114						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGCAAGATCTCTGGAACTGCA	0.433000													27	121					0	0	0.007291	0	0
NR1D2	9975	broad.mit.edu	37	3	24003755	24003755	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:24003755C>G	ENST00000312521.4	+	5	1124	c.805C>G	c.(805-807)Caa>Gaa	p.Q269E	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	269					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TATGTATAATCAAGAGCAGCA	0.423000													12	39					0	0	0.001855	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795145	9795145	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:9795145C>G	ENST00000377298.4	-	14	2763	c.1971G>C	c.(1969-1971)ctG>ctC	p.L657L	CLSTN1_ENST00000377288.3_Silent_p.L638L|CLSTN1_ENST00000361311.4_Silent_p.L647L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	657					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGACGCCACTCAGGCTGATCT	0.542000													29	112					0	0	0.003271	0	0
STAT1	6772	broad.mit.edu	37	2	191859795	191859795	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:191859795G>C	ENST00000361099.3	-	10	1323	c.936C>G	c.(934-936)ctC>ctG	p.L312L	STAT1_ENST00000409465.1_Silent_p.L312L|STAT1_ENST00000392322.3_Silent_p.L312L|STAT1_ENST00000392323.2_Silent_p.L314L|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	312					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ACCTCTGAATGAGCTGCTGGA	0.388000													7	44					0	0	0.003080	0	0
GBX1	2636	broad.mit.edu	37	7	150845999	150845999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:150845999G>A	ENST00000297537.4	-	2	768	c.769C>T	c.(769-771)Cct>Tct	p.P257S		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	257						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCCCCCAGGAGCTGTGACC	0.582000													26	69					0	0	0.005443	0	0
OGFOD1	55239	broad.mit.edu	37	16	56492479	56492479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56492479G>A	ENST00000566157.1	+	3	443	c.320G>A	c.(319-321)aGa>aAa	p.R107K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.R107K|OGFOD1_ENST00000565209.1_3'UTR	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	107							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TTGAAGAAGAGAAGAGAGCCT	0.368000													7	31					0	0	0.003080	0	0
NSD1	64324	broad.mit.edu	37	5	176709577	176709577	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176709577G>C	ENST00000439151.2	+	19	6049	c.6004G>C	c.(6004-6006)Gac>Cac	p.D2002H	NSD1_ENST00000361032.4_Missense_Mutation_p.D1899H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1733H|NSD1_ENST00000347982.4_Missense_Mutation_p.D1733H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2002	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTCACCCTAGACAAAGTAAG	0.388000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			23	66					0	0	0.002780	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182683478	182683478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:182683478C>T	ENST00000292782.4	-	2	220	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.E8K	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	23	UBA-like.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCTGTTTTTTCACTAGATTGT	0.323000													18	53					0	0	0.008871	0	0
FAM214A	56204	broad.mit.edu	37	15	52905993	52905993	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:52905993C>T	ENST00000261844.7	-	3	230	c.78G>A	c.(76-78)ctG>ctA	p.L26L	FAM214A_ENST00000546305.2_Silent_p.L33L	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	26																	CTTCTGTTATCAGCAAGGCCA	0.408000													11	27					0	0	0.008291	0	0
KCNH6	81033	broad.mit.edu	37	17	61611639	61611639	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:61611639C>T	ENST00000583023.1	+	5	1079	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	KCNH6_ENST00000580652.1_Silent_p.F356F|KCNH6_ENST00000314672.5_Silent_p.F356F|KCNH6_ENST00000581784.1_Silent_p.F356F|KCNH6_ENST00000456941.2_Silent_p.F356F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	356					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCATCCCTTTCGACCTCCTGA	0.622000													15	36					0	0	0.002450	0	0
VPS13B	157680	broad.mit.edu	37	8	100779029	100779029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:100779029G>A	ENST00000358544.2	+	40	7264	c.7153G>A	c.(7153-7155)Gaa>Aaa	p.E2385K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2360K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2385					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATACTGGGATGAACTCCAGAA	0.318000													14	36					0	0	0.003163	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561259	55561259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:55561259C>T	ENST00000436346.1	-	15	3539	c.2698G>A	c.(2698-2700)Gat>Aat	p.D900N	CCDC88A_ENST00000263630.8_Missense_Mutation_p.D900N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D900N|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D900N|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	900					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTTTTATATCAATAGTTGCT	0.279000													10	27					0	0	0.008291	0	0
NBAS	51594	broad.mit.edu	37	2	15415720	15415720	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:15415720G>A	ENST00000281513.5	-	44	5637	c.5612C>T	c.(5611-5613)cCg>cTg	p.P1871L	NBAS_ENST00000441750.1_Missense_Mutation_p.P1751L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1871										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGCCACTCCGGTGAAGAGCC	0.478000													14	50					0	0	0.002450	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724643	50724643	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50724643G>C	ENST00000449103.1	-	9	1976	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F612L|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	612					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGTCGTAGAAGGGGTACT	0.627000													28	79					0	0	0.010818	0	0
STAT1	6772	broad.mit.edu	37	2	191859849	191859849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:191859849G>C	ENST00000361099.3	-	10	1269	c.882C>G	c.(880-882)atC>atG	p.I294M	STAT1_ENST00000409465.1_Missense_Mutation_p.I294M|STAT1_ENST00000392322.3_Missense_Mutation_p.I294M|STAT1_ENST00000392323.2_Missense_Mutation_p.I296M|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	294					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGTTTTTTGTGATAGGGTCAT	0.438000													7	49					0	0	0.003080	0	0
VPS53	55275	broad.mit.edu	37	17	455171	455171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:455171G>A	ENST00000437048.2	-	17	1953	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000571805.1_Nonsense_Mutation_p.Q603*|VPS53_ENST00000446250.2_Nonsense_Mutation_p.Q405*|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Nonsense_Mutation_p.Q326*|VPS53_ENST00000291074.5_Nonsense_Mutation_p.Q574*	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	603					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		ACCAGCAGCTGAATACTGCTG	0.502000													5	9					0	0	0.001168	0	0
KCNK2	3776	broad.mit.edu	37	1	215368397	215368397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:215368397G>A	ENST00000444842.2	+	6	1075	c.925G>A	c.(925-927)Gat>Aat	p.D309N	KCNK2_ENST00000391895.2_Missense_Mutation_p.D305N|KCNK2_ENST00000391894.2_Missense_Mutation_p.D294N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	309				DWL -> RLV (in Ref. 3; AAD01203).			outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CATGATTGGAGATTGGCTCCG	0.373000													46	134					0	0	0.014410	0	0
OR1A1	8383	broad.mit.edu	37	17	3119610	3119610	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:3119610C>T	ENST00000304094.1	+	1	696	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCACCAAGGGCGTGCTCAAGG	0.483000													35	108					0	0	0.013726	0	0
SFRP5	6425	broad.mit.edu	37	10	99527298	99527298	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:99527298G>T	ENST00000266066.3	-	3	1045	c.927C>A	c.(925-927)ttC>ttA	p.F309L		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	309					apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CCCCGTAGAAGAAAGGGTAGT	0.587000													5	21					0.00116845	0.00120003	0.001168	1	0
CHN2	1124	broad.mit.edu	37	7	29552289	29552289	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:29552289G>A	ENST00000222792.6	+	13	1875	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	CHN2_ENST00000439711.2_Missense_Mutation_p.D267N|CHN2_ENST00000424025.2_Missense_Mutation_p.D268N|CHN2_ENST00000539389.1_Missense_Mutation_p.D305N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.D434N|CHN2_ENST00000421775.2_Missense_Mutation_p.D255N|CHN2_ENST00000495789.2_Missense_Mutation_p.D462N|CHN2_ENST00000435288.2_Missense_Mutation_p.D173N|CHN2_ENST00000409041.4_Missense_Mutation_p.D313N|CHN2_ENST00000539406.1_Missense_Mutation_p.D524N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	449	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CACCCTGCATGATATGCGGTA	0.463000													13	49					0	0	0.001855	0	0
DRP2	1821	broad.mit.edu	37	X	100505953	100505953	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100505953C>T	ENST00000395209.3	+	16	2273	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	DRP2_ENST00000541709.1_Silent_p.V504V|DRP2_ENST00000538510.1_Silent_p.V582V|DRP2_ENST00000402866.1_Silent_p.V582V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	582					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGAGTGGGTCAACCTGGAGC	0.537000													23	98					0	0	0.003954	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004986	102004986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:102004986C>T	ENST00000372735.1	+	4	1648	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	BHLHB9_ENST00000457056.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P355S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	355						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAATGTTCACCCATTTGCCCA	0.363000													5	73					0	0	0.001168	0	0
PTPRF	5792	broad.mit.edu	37	1	44069632	44069632	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069632G>T	ENST00000359947.4	+	16	3149	c.2809G>T	c.(2809-2811)Gac>Tac	p.D937Y	PTPRF_ENST00000438120.1_Missense_Mutation_p.D928Y|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.D928Y|PTPRF_ENST00000372414.3_Missense_Mutation_p.D937Y|PTPRF_ENST00000422171.2_Missense_Mutation_p.D285Y	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	937	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACTGGCCTGGGACCCGCCAGT	0.602000													9	21					1.12685e-05	1.17922e-05	0.004482	1	0
CILP	8483	broad.mit.edu	37	15	65499240	65499240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:65499240C>T	ENST00000261883.4	-	4	470	c.304G>A	c.(304-306)Gcg>Acg	p.A102T		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	102					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						GTGCTGCCCGCAGGTGTCCAG	0.627000													6	24					0	0	0.001168	0	0
GTPBP4	23560	broad.mit.edu	37	10	1063059	1063059	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:1063059G>C	ENST00000360803.4	+	17	1879	c.1797G>C	c.(1795-1797)aaG>aaC	p.K599N	GTPBP4_ENST00000545048.1_Missense_Mutation_p.K552N|GTPBP4_ENST00000538293.1_Missense_Mutation_p.K483N	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	599					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CTCAGAAGAAGATGAATCGGT	0.403000													15	63					0	0	0.003163	0	0
MRE11A	4361	broad.mit.edu	37	11	94179020	94179020	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:94179020G>C	ENST00000323929.3	-	16	2045	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	MRE11A_ENST00000407439.3_Nonsense_Mutation_p.S611*|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000393241.4_Nonsense_Mutation_p.S607*	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	608					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGCAGTCTTTGAGTTCCTGCT	0.378000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				32	89					0	0	0.003755	0	0
SPIN4	139886	broad.mit.edu	37	X	62570191	62570191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:62570191C>T	ENST00000374884.2	-	1	1032	c.454G>A	c.(454-456)Gac>Aac	p.D152N	SPIN4_ENST00000335144.3_Missense_Mutation_p.D170N|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4	170					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						TCTTTGTAGTCATCAAGCAGC	0.478000													25	91					0	0	0.003954	0	0
WTAP	9589	broad.mit.edu	37	6	160164726	160164726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:160164726G>T	ENST00000358372.4	+	5	1932	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	WTAP_ENST00000337387.4_Nonsense_Mutation_p.E59*|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	59					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AAGAGAGTCTGAAGAAAAACT	0.363000													9	33					2.17888e-05	2.27622e-05	0.006214	1	0
KPNA6	23633	broad.mit.edu	37	1	32632895	32632895	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:32632895C>G	ENST00000373625.3	+	12	1335	c.1242C>G	c.(1240-1242)atC>atG	p.I414M	KPNA6_ENST00000545542.1_Missense_Mutation_p.I419M|KPNA6_ENST00000537234.1_Missense_Mutation_p.I411M	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	414					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGAGCAGATCAGGTATTACA	0.473000													22	79					0	0	0.002780	0	0
CCDC170	80129	broad.mit.edu	37	6	151939129	151939129	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:151939129G>A	ENST00000367290.5	+	11	2105	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	CCDC170_ENST00000239374.7_Silent_p.V665V			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	665																	GCTTGAACGTGACCAGCCTTG	0.443000													5	71					0	0	0.000602	0	0
NIPBL	25836	broad.mit.edu	37	5	36976261	36976261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:36976261C>G	ENST00000282516.8	+	9	1751	c.1252C>G	c.(1252-1254)Caa>Gaa	p.Q418E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.Q418E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	418	Gln-rich.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATGCTGCTCAATGTTTGTC	0.413000													21	58					0	0	0.012319	0	0
REV3L	5980	broad.mit.edu	37	6	111688626	111688626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:111688626G>A	ENST00000435970.1	-	16	6947	c.6131C>T	c.(6130-6132)tCt>tTt	p.S2044F	REV3L_ENST00000368805.1_Missense_Mutation_p.S2122F|REV3L_ENST00000358835.3_Missense_Mutation_p.S2122F|REV3L_ENST00000368802.3_Missense_Mutation_p.S2122F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2122					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATTACTGGAGAATCAGGGGA	0.438000								DNA polymerases (catalytic subunits)					19	173					0	0	0.012319	0	0
COL4A2	1284	broad.mit.edu	37	13	111077163	111077163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:111077163G>A	ENST00000360467.5	+	5	569	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	88					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGACGTAAAGGAGACAAGGGT	0.627000													13	41					0	0	0.001855	0	0
PSD	5662	broad.mit.edu	37	10	104173810	104173810	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:104173810G>A	ENST00000020673.5	-	5	1795	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	PSD_ENST00000406432.1_Silent_p.L423L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	423					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGCGAGGCGAGGCTGGTAT	0.652000													4	46					0	0	0.009096	0	0
SNAI2	6591	broad.mit.edu	37	8	49832516	49832516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:49832516C>G	ENST00000396822.1	-	3	921	c.564G>C	c.(562-564)aaG>aaC	p.K188N	SNAI2_ENST00000020945.1_Missense_Mutation_p.K188N			O43623	SNAI2_HUMAN	snail family zinc finger 2	188					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGCCGCAGATCTTGCAAACAC	0.458000													9	72					0	0	0.008291	0	0
PEAK1	79834	broad.mit.edu	37	15	77471990	77471990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:77471990C>T	ENST00000560626.2	-	4	2754	c.2279G>A	c.(2278-2280)aGa>aAa	p.R760K	PEAK1_ENST00000312493.4_Missense_Mutation_p.R760K|PEAK1_ENST00000558305.1_Missense_Mutation_p.R760K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	760					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGCTTTCTCTCTGGTGCTGCT	0.537000													32	72					0	0	0.012213	0	0
NR1D2	9975	broad.mit.edu	37	3	24003916	24003916	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:24003916C>T	ENST00000312521.4	+	5	1285	c.966C>T	c.(964-966)ttC>ttT	p.F322F	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	322					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATGGACAGTTCAAAGGGAGGA	0.398000													9	28					0	0	0.004482	0	0
KIAA1841	84542	broad.mit.edu	37	2	61300626	61300626	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:61300626C>G	ENST00000402291.1	+	5	612	c.371C>G	c.(370-372)tCt>tGt	p.S124C	KIAA1841_ENST00000295031.5_Missense_Mutation_p.S124C|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S124C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S124C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	124										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGGAATTGTTCTTCAGAAAGT	0.353000													10	35					0	0	0.013537	0	0
SCAP	22937	broad.mit.edu	37	3	47484421	47484421	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:47484421G>A	ENST00000265565.5	-	2	475	c.63C>T	c.(61-63)ctC>ctT	p.L21L	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	21					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGATGCACAGAGGAGCCCAT	0.537000													6	29					0	0	0.001984	0	0
PTPN21	11099	broad.mit.edu	37	14	88935898	88935898	+	Silent	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:88935898G>T	ENST00000556564.1	-	17	3464	c.3180C>A	c.(3178-3180)ctC>ctA	p.L1060L	PTPN21_ENST00000328736.3_Silent_p.L1060L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1060	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGTATTGGAGGTGCCAGA	0.537000													5	53					2.7689e-08	2.94832e-08	0.001984	1	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906057	120906057	+	RNA	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:120906057G>A	ENST00000430394.1	+	0	30					NR_027337.1																						CGGATCCAGCGAAATCCGCTC	0.517000													25	47					0	0	0.006320	0	0
TRIM4	89122	broad.mit.edu	37	7	99489924	99489924	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:99489924C>T	ENST00000355947.2	-	7	1494	c.1365G>A	c.(1363-1365)ggG>ggA	p.G455G	TRIM4_ENST00000349062.2_Silent_p.G429G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	455	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGAGACATTCCCAGTCCCAC	0.557000													23	102					0	0	0.002780	0	0
FZD6	8323	broad.mit.edu	37	8	104337587	104337587	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:104337587G>C	ENST00000358755.4	+	4	1570	c.1253G>C	c.(1252-1254)gGa>gCa	p.G418A	FZD6_ENST00000540287.1_Missense_Mutation_p.G113A|FZD6_ENST00000523739.1_Missense_Mutation_p.G386A|FZD6_ENST00000522566.1_Missense_Mutation_p.G418A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	418					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATTCGAATTGGAGTCTTCAGC	0.403000													26	157					0	0	0.004656	0	0
ATP8B1	5205	broad.mit.edu	37	18	55359051	55359051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:55359051G>C	ENST00000536015.1	-	12	1327	c.1208C>G	c.(1207-1209)tCt>tGt	p.S403C	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.S403C	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	403			S -> Y (in PFIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GACATAGAGAGAGATGGGTAC	0.443000													8	37					0	0	0.004482	0	0
FAT1	2195	broad.mit.edu	37	4	187628329	187628329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187628329G>A	ENST00000441802.2	-	2	2862	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	885	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCAGCTCTCGATCCAGAGGG	0.512000										HNSCC(5;0.00058)			13	64					0	0	0.013537	0	0
SLC3A2	6520	broad.mit.edu	37	11	62649516	62649516	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62649516C>T	ENST00000377892.1	+	6	1196	c.972C>T	c.(970-972)ctC>ctT	p.L324L	SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Silent_p.L231L|SLC3A2_ENST00000377890.2_Silent_p.L293L|SLC3A2_ENST00000377891.2_Silent_p.L294L|SLC3A2_ENST00000338663.7_Silent_p.L192L|SLC3A2_ENST00000535296.1_Silent_p.L262L|SLC3A2_ENST00000538682.1_3'UTR			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	293					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTGACAGTCTCTTGCAATCGG	0.473000													12	51					0	0	0.004007	0	0
FOXD4	2298	broad.mit.edu	37	9	117889	117889	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:117889G>A	ENST00000382500.2	-	1	528	c.231C>T	c.(229-231)agC>agT	p.S77S		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGAGGGGTCGCTCGGGCCGC	0.706000													26	105					0	0	0.014410	0	0
YBX2	51087	broad.mit.edu	37	17	7192869	7192869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7192869G>A	ENST00000007699.5	-	7	1087	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	342	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCGGGCTGCCGGGGGCCAGGG	0.667000													6	11					0	0	0.001168	0	0
XKR6	286046	broad.mit.edu	37	8	10755509	10755509	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:10755509C>G	ENST00000416569.2	-	3	1905	c.1879G>C	c.(1879-1881)Gac>Cac	p.D627H	XKR6_ENST00000304437.2_Missense_Mutation_p.D348H	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	627						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTGGTCCGTCTCGATATCGA	0.463000													20	34					0	0	0.008871	0	0
WNT4	54361	broad.mit.edu	37	1	22456196	22456196	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:22456196C>G	ENST00000290167.6	-	2	269	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	WNT4_ENST00000542383.1_Missense_Mutation_p.E21Q	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	76					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGGCACTCCTCAATGGCCAGC	0.627000													14	40					0	0	0.001855	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214128	11214128	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:11214128C>G	ENST00000533467.1	-	1	765	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	256					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GGTTTGTTTTCCAGACTCTCA	0.423000													18	126					0	0	0.008871	0	0
PRC1	9055	broad.mit.edu	37	15	91510405	91510405	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:91510405C>G	ENST00000361919.3	-	14	1856	c.1700G>C	c.(1699-1701)tGa>tCa	p.*567S	PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Nonstop_Mutation_p.*526S|PRC1_ENST00000361188.5_Missense_Mutation_p.D593H|PRC1_ENST00000394249.3_Missense_Mutation_p.D607H	NM_199413.2	NP_955445.1	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	0	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAAGTAGCATCAGATTTGGAA	0.448000													22	55					0	0	0.010504	0	0
AGMAT	79814	broad.mit.edu	37	1	15904338	15904338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:15904338C>T	ENST00000375826.3	-	5	884	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	248					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGTCTTCAGCCAGGACT	0.537000													7	19					0	0	0.001984	0	0
LRRC31	79782	broad.mit.edu	37	3	169572619	169572619	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:169572619C>G	ENST00000316428.5	-	6	1030	c.973G>C	c.(973-975)Gat>Cat	p.D325H	LRRC31_ENST00000264676.5_Missense_Mutation_p.D269H|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.D325H	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	325										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ATCACGTCATCTGCTGTTAGT	0.408000													16	63					0	0	0.003163	0	0
FBN2	2201	broad.mit.edu	37	5	127637197	127637197	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:127637197C>G	ENST00000508053.1	-	53	6897	c.5923G>C	c.(5923-5925)Gat>Cat	p.D1975H	FBN2_ENST00000262464.4_Missense_Mutation_p.D1975H			P35556	FBN2_HUMAN	fibrillin 2	1975	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCACTCATCTATGTCTGTA	0.353000													26	73					0	0	0.004656	0	0
TMOD2	29767	broad.mit.edu	37	15	52069169	52069169	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:52069169C>T	ENST00000249700.4	+	5	668	c.447C>T	c.(445-447)ttC>ttT	p.F149F	TMOD2_ENST00000435126.2_Silent_p.F149F|TMOD2_ENST00000539962.2_Silent_p.F105F	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	149					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ATCCAAAGTTCGATGAAGAAA	0.413000													13	38					0	0	0.013537	0	0
HCN4	10021	broad.mit.edu	37	15	73616079	73616079	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:73616079G>A	ENST00000261917.3	-	8	3348	c.2355C>T	c.(2353-2355)gcC>gcT	p.A785A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	785					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGTGGCAGCGGCAGCCTGCA	0.701000													8	26					0	0	0.006214	0	0
IRS4	8471	broad.mit.edu	37	X	107976981	107976981	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:107976981G>A	ENST00000372129.2	-	1	2670	c.2594C>T	c.(2593-2595)tCa>tTa	p.S865L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	865						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCAGGCTTTGAGAATGATCC	0.468000													60	212					0	0	0.014410	0	0
RPN2	6185	broad.mit.edu	37	20	35827508	35827508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:35827508C>A	ENST00000237530.6	+	4	670	c.359C>A	c.(358-360)tCa>tAa	p.S120*	RPN2_ENST00000373622.5_Nonsense_Mutation_p.S88*	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	120					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGTGAGGACTCATCTGTTACC	0.483000													22	69					2.37509e-13	2.55134e-13	0.010504	1	0
FGL1	2267	broad.mit.edu	37	8	17731930	17731930	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:17731930G>A	ENST00000398056.2	-	6	1160	c.345C>T	c.(343-345)tcC>tcT	p.S115S	FGL1_ENST00000518650.1_Silent_p.S115S|FGL1_ENST00000427924.1_Silent_p.S115S|FGL1_ENST00000398054.1_Silent_p.S115S|FGL1_ENST00000381840.2_Silent_p.S115S|FGL1_ENST00000381841.2_Silent_p.S115S|FGL1_ENST00000522444.1_Silent_p.S115S			Q08830	FGL1_HUMAN	fibrinogen-like 1	115	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CTCCTCCATCGGACATGTCAC	0.383000													29	44					0	0	0.008361	0	0
MST1L	11223	broad.mit.edu	37	1	17084717	17084717	+	RNA	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:17084717G>C	ENST00000455405.2	-	0	299																		p.S498F(1)									TCACCAGGAGGAGAAGCACTG	0.577000													3	32					0	0	0.009096	0	0
SCN3A	6328	broad.mit.edu	37	2	166020352	166020352	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:166020352G>A	ENST00000360093.3	-	7	1145	c.654C>T	c.(652-654)ttC>ttT	p.F218F	SCN3A_ENST00000409101.3_Silent_p.F218F|SCN3A_ENST00000283254.7_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	218						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAAGACTCTGAAAGTTCGAA	0.373000													8	19					0	0	0.004482	0	0
KDM6B	23135	broad.mit.edu	37	17	7753196	7753196	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7753196G>A	ENST00000254846.5	+	12	3887	c.3498G>A	c.(3496-3498)gtG>gtA	p.V1166V	KDM6B_ENST00000448097.2_Silent_p.V1166V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1166					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V1166V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCAGTCTGTGAAACCGAAGA	0.532000													40	120					0	0	0.006999	0	0
OSM	5008	broad.mit.edu	37	22	30660370	30660370	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:30660370C>T	ENST00000215781.2	-	3	301	c.261G>A	c.(259-261)ctG>ctA	p.L87L	OSM_ENST00000403389.1_Silent_p.L66L|OSM_ENST00000403463.1_3'UTR	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	87					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CCAGCCCCCTCAGGGTCTCCT	0.657000													8	18					0	0	0.003080	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455394	187455394	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187455394G>C	ENST00000307161.5	-	2	703	c.502C>G	c.(502-504)Ctc>Gtc	p.L168V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	168					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TCGTACTGGAGAGTCCCTGCA	0.602000													13	60					0	0	0.002450	0	0
GYS1	2997	broad.mit.edu	37	19	49477904	49477904	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:49477904G>A	ENST00000323798.3	-	11	1591	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	GYS1_ENST00000541188.1_Silent_p.L385L|GYS1_ENST00000263276.6_Silent_p.L401L|GYS1_ENST00000544287.1_Silent_p.L98L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	465					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGCTATTGAAGAGGCCGATTC	0.617000													8	32					0	0	0.003080	0	0
SSPO	23145	broad.mit.edu	37	7	149482281	149482281	+	RNA	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:149482281C>G	ENST00000378016.2	+	0	2955							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTACCTGCCCAACGCCACCA	0.612000													11	50					0	0	0.013537	0	0
FGD6	55785	broad.mit.edu	37	12	95478362	95478362	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:95478362C>G	ENST00000343958.4	-	20	4391	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1390	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCGGAATTCTCATCTTTAACT	0.343000													25	39					0	0	0.002780	0	0
FAM50A	9130	broad.mit.edu	37	X	153677638	153677638	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:153677638G>C	ENST00000393600.3	+	8	828	c.718G>C	c.(718-720)Gag>Cag	p.E240Q		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	240					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACTTCAGTGAGCTGAGGTG	0.592000													11	33					0	0	0.013537	0	0
NFATC2	4773	broad.mit.edu	37	20	50049030	50049030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:50049030G>A	ENST00000371564.3	-	9	2515	c.2296C>T	c.(2296-2298)Cag>Tag	p.Q766*	NFATC2_ENST00000396009.3_Nonsense_Mutation_p.Q766*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.Q746*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	766					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCGGCTGCTGATAGCCCAGC	0.697000													5	18					0	0	0.000602	0	0
KMT2A	4297	broad.mit.edu	37	11	118361969	118361969	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:118361969G>A	ENST00000534358.1	+	14	4778	c.4755G>A	c.(4753-4755)atG>atA	p.M1585I	KMT2A_ENST00000354520.4_Missense_Mutation_p.M1547I|KMT2A_ENST00000389506.5_Missense_Mutation_p.M1585I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGAGTAAGATGATGCAATGTG	0.398000													33	107					0	0	0.005524	0	0
RBM12B	389677	broad.mit.edu	37	8	94746486	94746486	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:94746486G>A	ENST00000399300.2	-	3	2366	c.2153C>T	c.(2152-2154)tCa>tTa	p.S718L	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	718							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCCTGGGGTGACTGCCTGAA	0.627000													7	162					0	0	0.001984	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665352	6665352	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6665352G>C	ENST00000326176.9	-	5	581	c.200C>G	c.(199-201)tCc>tGc	p.S67C	TNFSF14_ENST00000245912.3_Missense_Mutation_p.S67C|TNFSF14_ENST00000599359.1_Missense_Mutation_p.S103C	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	103					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGTCAAGCTGGAGTTGGCCCC	0.602000													3	3					0	0	0.004672	0	0
LPHN3	23284	broad.mit.edu	37	4	62679581	62679581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:62679581C>G	ENST00000512091.1	+	8	1997	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	LPHN3_ENST00000511324.1_Missense_Mutation_p.S485C|LPHN3_ENST00000514591.1_Missense_Mutation_p.S417C|LPHN3_ENST00000514157.1_Missense_Mutation_p.S417C|LPHN3_ENST00000508946.1_Missense_Mutation_p.S417C|LPHN3_ENST00000514996.1_Missense_Mutation_p.S417C|LPHN3_ENST00000545650.1_Missense_Mutation_p.S417C|LPHN3_ENST00000506746.1_Missense_Mutation_p.S485C|LPHN3_ENST00000507625.1_Missense_Mutation_p.S485C|LPHN3_ENST00000504896.1_Missense_Mutation_p.S417C|LPHN3_ENST00000507164.1_Missense_Mutation_p.S485C|LPHN3_ENST00000509896.1_Missense_Mutation_p.S485C|LPHN3_ENST00000506700.1_Missense_Mutation_p.S417C|LPHN3_ENST00000508693.1_Missense_Mutation_p.S485C|LPHN3_ENST00000506720.1_Missense_Mutation_p.S485C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	417					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						caccttgactctgagctagaa	0.383000													7	40					0	0	0.004482	0	0
CR2	1380	broad.mit.edu	37	1	207643212	207643212	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:207643212G>A	ENST00000367057.3	+	6	1179	c.990G>A	c.(988-990)caG>caA	p.Q330Q	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Silent_p.Q330Q|CR2_ENST00000458541.2_Silent_p.Q330Q|CR2_ENST00000367059.3_Silent_p.Q330Q	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	330	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGATAGTCAGAAGACTGGGA	0.517000													10	25					0	0	0.006214	0	0
C11orf58	10944	broad.mit.edu	37	11	16760339	16760339	+	Missense_Mutation	SNP	G	G	C	rs146011841		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:16760339G>C	ENST00000228136.4	+	1	392	c.14G>C	c.(13-15)aGa>aCa	p.R5T	C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.R5T			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	5										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						AGTGCTGCCAGAGAGTCTCAC	0.582000													3	46					0	0	0.004672	0	0
EML1	2009	broad.mit.edu	37	14	100405558	100405558	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:100405558G>A	ENST00000262233.6	+	21	2355	c.2216G>A	c.(2215-2217)gGa>gAa	p.G739E	EML1_ENST00000334192.4_Missense_Mutation_p.G758E|EML1_ENST00000327921.9_Missense_Mutation_p.G727E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	739						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGCTCGGACGGAACCGACATC	0.587000													4	40					0	0	0.009096	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33689480	33689480	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:33689480C>G	ENST00000321505.4	+	20	5510	c.5330C>G	c.(5329-5331)tCc>tGc	p.S1777C	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1783C|RP4-541C22.5_ENST00000534431.1_RNA					KIAA1549-like																		AGCTCTCCCTCCAGGCTTCCT	0.687000													7	12					0	0	0.001984	0	0
KCNC2	3747	broad.mit.edu	37	12	75444683	75444683	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:75444683G>A	ENST00000549446.1	-	3	1782	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000540018.1_Silent_p.L368L|KCNC2_ENST00000550433.1_Silent_p.L368L|KCNC2_ENST00000548513.1_Silent_p.L368L|KCNC2_ENST00000393288.2_Silent_p.L368L|KCNC2_ENST00000341669.3_Silent_p.L368L|KCNC2_ENST00000298972.1_Silent_p.L368L|KCNC2_ENST00000350228.2_Silent_p.L368L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	368					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGCACCCTCAGACCTACAAAA	0.438000													19	25					0	0	0.012319	0	0
IFT81	28981	broad.mit.edu	37	12	110628776	110628776	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:110628776G>C	ENST00000242591.5	+	13	1896	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E464Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	464					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						CACCCAAGAAGAGCTAGAAAG	0.338000													20	48					0	0	0.014323	0	0
CLCA1	1179	broad.mit.edu	37	1	86939133	86939133	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:86939133G>C	ENST00000234701.3	+	3	547	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	CLCA1_ENST00000394711.1_Missense_Mutation_p.E66Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	66					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTATCTGCTTGAAGCTACAGG	0.358000													7	44					0	0	0.001984	0	0
UBE2D2	7322	broad.mit.edu	37	5	138979957	138979957	+	Splice_Site	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:138979957G>C	ENST00000398733.3	+	2	651	c.24_splice	c.e2-1	p.E9_splice	UBE2D2_ENST00000505548.1_5'UTR|UBE2D2_ENST00000511725.1_5'UTR|UBE2D2_ENST00000253815.2_5'UTR	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	9					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTTCTGTAGGAATTGAATGA	0.348000													9	24					0	0	0.004482	0	0
ZNF652	22834	broad.mit.edu	37	17	47388699	47388699	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:47388699G>A	ENST00000362063.2	-	5	1602	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ZNF652_ENST00000430262.2_Silent_p.F428F	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGTGTTCGTCGAAGTACTGCT	0.423000													24	79					0	0	0.003330	0	0
MYCBP2	23077	broad.mit.edu	37	13	77633702	77633702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:77633702C>T	ENST00000407578.2	-	77	13362	c.13096G>A	c.(13096-13098)Gag>Aag	p.E4366K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4328K|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E4328K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAGATAACTCTGTTCCACTC	0.463000													8	67					0	0	0.004482	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490651	48490651	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:48490651G>C	ENST00000273861.4	+	3	1228	c.1009G>C	c.(1009-1011)Ggt>Cgt	p.G337R		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	337						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCTGGAAACAGGTAGTCAGAA	0.443000													36	95					0	0	0.004878	0	0
TTC14	151613	broad.mit.edu	37	3	180327993	180327993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:180327993G>T	ENST00000296015.4	+	12	2108	c.1976G>T	c.(1975-1977)aGa>aTa	p.R659I	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	659							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGCACTATAGAAGGTGGGAA	0.403000													9	39					0.000274275	0.000284087	0.004482	1	0
TARS	6897	broad.mit.edu	37	5	33455163	33455163	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:33455163C>T	ENST00000265112.3	+	5	878	c.567C>T	c.(565-567)ctC>ctT	p.L189L	TARS_ENST00000414361.2_Silent_p.L68L|TARS_ENST00000541634.1_Silent_p.L85L|TARS_ENST00000455217.2_Silent_p.L222L|TARS_ENST00000502553.1_Silent_p.L189L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	189					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ACATGTACCTCGAAGAAGGGT	0.388000													13	27					0	0	0.003163	0	0
GLB1L	79411	broad.mit.edu	37	2	220102389	220102389	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:220102389G>C	ENST00000295759.7	-	16	1847	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	GLB1L_ENST00000356283.3_Missense_Mutation_p.L422V|GLB1L_ENST00000409640.1_Missense_Mutation_p.L422V|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.L512V			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	512					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAATTTTCAGAGGGAACATC	0.453000													19	46					0	0	0.010504	0	0
STK31	56164	broad.mit.edu	37	7	23768842	23768842	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:23768842G>C	ENST00000354639.3	+	6	852	c.388G>C	c.(388-390)Gat>Cat	p.D130H	STK31_ENST00000433467.2_Missense_Mutation_p.D153H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.D153H|STK31_ENST00000428484.1_Missense_Mutation_p.D130H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	153	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATTCCTTCTGATCAAGAAGT	0.328000													10	22					0	0	0.010729	0	0
STK16	8576	broad.mit.edu	37	2	220111834	220111834	+	Splice_Site	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:220111834G>C	ENST00000409638.3	+	4	478		c.e4-1		STK16_ENST00000409516.3_Intron|STK16_ENST00000409260.1_Splice_Site|STK16_ENST00000396738.2_Splice_Site|STK16_ENST00000409743.1_Splice_Site|STK16_ENST00000486813.1_Splice_Site	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16						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)		TTGTGTTGCAGAGAGGTACGC	0.502000													9	21					0	0	0.008291	0	0
PCYT1A	5130	broad.mit.edu	37	3	195965715	195965715	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:195965715C>T	ENST00000292823.2	-	10	1120	c.948G>A	c.(946-948)ccG>ccA	p.P316P	PCYT1A_ENST00000431016.1_Silent_p.P316P|PCYT1A_ENST00000419333.1_Silent_p.P316P	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	316						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	GGCTCTGCTTCGGGCTGATGG	0.587000													3	12					0	0	0.004672	0	0
AHNAK	79026	broad.mit.edu	37	11	62296791	62296791	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62296791C>G	ENST00000378024.4	-	5	5372	c.5098G>C	c.(5098-5100)Gat>Cat	p.D1700H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1700					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACCTCCACATCTGGGGCATCA	0.493000													60	241					0	0	0.014410	0	0
NAT6	24142	broad.mit.edu	37	3	50334679	50334679	+	Silent	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:50334679C>A	ENST00000443842.1	-	2	1023	c.216G>T	c.(214-216)ctG>ctT	p.L72L	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000354862.4_Silent_p.L94L|NAT6_ENST00000443094.2_Silent_p.L72L|NAT6_ENST00000417393.1_Silent_p.L72L|HYAL3_ENST00000513170.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CACAAGCATCCAGGAGCTCGG	0.642000													9	40					0.000442599	0.000457654	0.006214	1	0
FAM65A	79567	broad.mit.edu	37	16	67573997	67573997	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:67573997C>T	ENST00000540839.3	+	8	736	c.516C>T	c.(514-516)ctC>ctT	p.L172L	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.L166L|FAM65A_ENST00000422602.2_Silent_p.L172L|FAM65A_ENST00000379312.3_Silent_p.L156L|FAM65A_ENST00000042381.4_Silent_p.L152L|FAM65A_ENST00000566522.1_3'UTR			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	156						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGCGGCGTCTCCGGGATGGTG	0.637000													30	72					0	0	0.007291	0	0
TEPP	374739	broad.mit.edu	37	16	58019836	58019836	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58019836C>G	ENST00000290871.5	+	7	894	c.857C>G	c.(856-858)tCc>tGc	p.S286C	TEPP_ENST00000441824.2_Missense_Mutation_p.S259C|TEPP_ENST00000569996.1_3'UTR	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	259						extracellular region		p.S286Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AGCTTCGGCTCCAGCTACAGG	0.652000													8	46					0	0	0.003080	0	0
TAF2	6873	broad.mit.edu	37	8	120809951	120809951	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:120809951C>T	ENST00000378164.2	-	7	1226	c.928G>A	c.(928-930)Gat>Aat	p.D310N		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	310					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAAGCCTCATCAATGAAGACA	0.353000													6	75					0	0	0.001168	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533010	166533010	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:166533010G>T	ENST00000314499.7	+	6	973	c.597G>T	c.(595-597)aaG>aaT	p.K199N	CSRNP3_ENST00000342316.4_Missense_Mutation_p.K199N|CSRNP3_ENST00000409420.1_Missense_Mutation_p.K231N	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	199					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGGAAGAAAAGCACGAACTCC	0.522000													30	78					1.2476e-16	1.34972e-16	0.006320	1	0
GOLGB1	2804	broad.mit.edu	37	3	121411229	121411229	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:121411229C>G	ENST00000393667.3	-	14	7092	c.6982G>C	c.(6982-6984)Gat>Cat	p.D2328H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2323H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2323					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTACTTAAATCAGTCAACTGG	0.373000													24	66					0	0	0.014323	0	0
CDC6	990	broad.mit.edu	37	17	38450695	38450695	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:38450695G>C	ENST00000209728.4	+	7	1494	c.1023G>C	c.(1021-1023)ttG>ttC	p.L341F		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	341					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CACAGCTGTTGAACTTCCCAC	0.398000													20	70					0	0	0.008871	0	0
CRISP3	10321	broad.mit.edu	37	6	49704110	49704110	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:49704110C>T	ENST00000433368.2	-	3	321	c.252G>A	c.(250-252)ctG>ctA	p.L84L	CRISP3_ENST00000371159.4_Silent_p.L92L|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Silent_p.L61L|CRISP3_ENST00000263045.4_Silent_p.L74L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	61					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACCATCTTCAGCATGTTTC	0.438000													43	96					0	0	0.011902	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402742	139402742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:139402742C>T	ENST00000277541.6	-	20	3342	c.3267G>A	c.(3265-3267)tgG>tgA	p.W1089*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1089	EGF-like 28.				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)		AAAGGCCGGTCCAGCCGCTGG	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			31	64					0	0	0.009535	0	0
AIG1	51390	broad.mit.edu	37	6	143486275	143486275	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:143486275G>A	ENST00000494282.2	+	3	379	c.354G>A	c.(352-354)ccG>ccA	p.P118P	AIG1_ENST00000275235.4_Silent_p.P118P|AIG1_ENST00000344492.5_Silent_p.P66P|AIG1_ENST00000367598.5_Silent_p.P118P|AIG1_ENST00000357847.4_Silent_p.P118P			Q9NVV5	AIG1_HUMAN	androgen-induced 1	118						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TGATATACCCGAAGCTGCTGG	0.358000													22	100					0	0	0.006320	0	0
MROH5	389690	broad.mit.edu	37	8	142477621	142477621	+	RNA	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:142477621C>G	ENST00000430863.1	-	0	2280					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TCGCTCAACTCTGCCAGTGTG	0.667000													10	41					0	0	0.010729	0	0
SNX27	81609	broad.mit.edu	37	1	151630850	151630850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:151630850C>T	ENST00000368843.3	+	3	803	c.683C>T	c.(682-684)tCa>tTa	p.S228L	SNX27_ENST00000368838.1_Missense_Mutation_p.S135L|SNX27_ENST00000458013.2_Missense_Mutation_p.S228L	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	228	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTCATTATCAGAACAACAA	0.433000													18	124					0	0	0.010504	0	0
TSPAN11	441631	broad.mit.edu	37	12	31116785	31116785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:31116785G>A	ENST00000261177.9	+	3	168	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Missense_Mutation_p.V37M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.V27M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	37						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGTCCTGGCTGTGGGCATCTG	0.662000													20	52					0	0	0.012319	0	0
CLPX	10845	broad.mit.edu	37	15	65458988	65458988	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:65458988G>C	ENST00000300107.3	-	4	682	c.494C>G	c.(493-495)cCa>cGa	p.P165R		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	165					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GGGAGGTGGTGGTTTCTGTTG	0.378000													52	137					0	0	0.014410	0	0
COL15A1	1306	broad.mit.edu	37	9	101765755	101765755	+	Silent	SNP	G	G	C	rs142437738		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:101765755G>C	ENST00000375001.3	+	8	1509	c.1086G>C	c.(1084-1086)gcG>gcC	p.A362A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	362	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAACAGCAGCGGGGCTGGCCG	0.582000													16	76					0	0	0.004990	0	0
METTL18	92342	broad.mit.edu	37	1	169761757	169761757	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:169761757C>T	ENST00000310392.4	-	2	1433	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	METTL18_ENST00000303469.2_Silent_p.K360K|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	360			K -> M (in dbSNP:rs13375701).			cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						TTATGAACCTCTTCAATCCTT	0.308000													3	8					0	0	0.009096	0	0
HECTD2	143279	broad.mit.edu	37	10	93242780	93242780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:93242780G>C	ENST00000446394.1	+	8	868	c.768G>C	c.(766-768)caG>caC	p.Q256H	HECTD2_ENST00000298068.5_Missense_Mutation_p.Q256H|HECTD2_ENST00000536715.1_5'UTR			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	256					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGCTACGACAGATAGCTACCT	0.308000													16	35					0	0	0.007413	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829597	106829597	+	RNA	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:106829597C>T	ENST00000390616.2	-	0	396																											CTGTGCCTCTCGCACAGTAAT	0.587000													38	136					0	0	0.006999	0	0
TRIM32	22954	broad.mit.edu	37	9	119460354	119460354	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:119460354C>T	ENST00000450136.1	+	2	494	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.F111F|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	111					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CCCGGCAATTCTGCCGGAGCT	0.592000													18	74					0	0	0.007413	0	0
ZFP37	7539	broad.mit.edu	37	9	115805660	115805660	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:115805660G>C	ENST00000374227.3	-	4	1265	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	ZFP37_ENST00000553380.1_Missense_Mutation_p.S428C|ZFP37_ENST00000555206.1_Missense_Mutation_p.S414C			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	413						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATACCTAAAAGACTTCCCACA	0.393000													28	86					0	0	0.005443	0	0
P2RX4	5025	broad.mit.edu	37	12	121670829	121670829	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:121670829C>T	ENST00000337233.4	+	11	1382	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	P2RX4_ENST00000543171.1_Silent_p.L257L|P2RX4_ENST00000359949.7_Silent_p.L374L	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	358					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATAGTCCTCTACTGCATGA	0.507000													21	232					0	0	0.012319	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745036	23745036	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:23745036C>T	ENST00000357460.5	-	2	1565	c.1401G>A	c.(1399-1401)gaG>gaA	p.E467E	HOMEZ_ENST00000561013.1_Silent_p.E469E|HOMEZ_ENST00000431326.2_Silent_p.E469E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	467						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)		CCCAGTACCTCTCCAAGGGTT	0.552000													6	31					0	0	0.001168	0	0
RRP8	23378	broad.mit.edu	37	11	6622653	6622653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:6622653C>T	ENST00000254605.6	-	3	760	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	215					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TCTGTGGGGGCCTCAGCTGGG	0.592000													11	39					0	0	0.010729	0	0
CFL1	1072	broad.mit.edu	37	11	65623593	65623593	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:65623593C>T	ENST00000525451.2	-	3	839	c.124G>A	c.(124-126)Gag>Aag	p.E42K	CFL1_ENST00000531407.1_Missense_Mutation_p.E25K|CFL1_ENST00000531413.1_Missense_Mutation_p.E25K|CFL1_ENST00000524553.1_Missense_Mutation_p.E25K|CFL1_ENST00000527344.1_Missense_Mutation_p.E25K|CFL1_ENST00000308162.5_Missense_Mutation_p.E42K|CFL1_ENST00000534769.1_Missense_Mutation_p.E80K			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	42	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TTCTTGTCCTCACTCAGGCAG	0.547000													17	56					0	0	0.008871	0	0
GPR101	83550	broad.mit.edu	37	X	136113291	136113291	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:136113291G>C	ENST00000298110.1	-	1	542	c.543C>G	c.(541-543)ctC>ctG	p.L181L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	181						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCATGGAGCAGAGAGCATTGC	0.572000													11	22					0	0	0.008291	0	0
GBP3	2635	broad.mit.edu	37	1	89486310	89486310	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:89486310G>C	ENST00000370481.4	-	2	315	c.95C>G	c.(94-96)tCt>tGt	p.S32C	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	32						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TGTAATGGCAGACAGGATTTT	0.517000													26	78					0	0	0.003954	0	0
DNAH11	8701	broad.mit.edu	37	7	21678666	21678666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:21678666G>T	ENST00000328843.6	+	28	4973	c.4942G>T	c.(4942-4944)Gga>Tga	p.G1648*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.G1643*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1648	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCTCAAAAGGAGCTCAGCC	0.398000									Kartagener syndrome				9	47					3.09899e-07	3.27115e-07	0.004482	1	0
DHTKD1	55526	broad.mit.edu	37	10	12126746	12126746	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:12126746C>G	ENST00000263035.4	+	3	580	c.518C>G	c.(517-519)tCt>tGt	p.S173C	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	173					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATGCTGGAATCTCAGGTAAAA	0.527000													12	54					0	0	0.010729	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906954	164906954	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:164906954G>C	ENST00000475390.1	-	2	2108	c.1665C>G	c.(1663-1665)gtC>gtG	p.V555V	SLITRK3_ENST00000241274.3_Silent_p.V555V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	555						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTCTATCTGGACAATGGCAT	0.527000										HNSCC(40;0.11)			4	50					0	0	0.009096	0	0
ZNF177	7730	broad.mit.edu	37	19	9492159	9492159	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:9492159G>C	ENST00000541595.2	+	12	1301	c.672G>C	c.(670-672)aaG>aaC	p.K224N	ZNF177_ENST00000434737.2_Missense_Mutation_p.K384N|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.K224N|ZNF177_ENST00000589262.1_Missense_Mutation_p.K384N|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Missense_Mutation_p.K224N	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	224					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CATCCCTTAAGAAACACACAC	0.463000													16	131					0	0	0.004990	0	0
DPPA2	151871	broad.mit.edu	37	3	109026903	109026903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:109026903C>G	ENST00000478945.1	-	6	880	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	212						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAAAGGCCTCAACAGAAACA	0.458000													11	15					0	0	0.013537	0	0
OGFOD1	55239	broad.mit.edu	37	16	56492471	56492471	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56492471G>C	ENST00000566157.1	+	3	435	c.312G>C	c.(310-312)ttG>ttC	p.L104F	OGFOD1_ENST00000568397.1_Missense_Mutation_p.L104F|OGFOD1_ENST00000565209.1_3'UTR	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	104							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGATGATTTGAAGAAGAGAA	0.378000													7	31					0	0	0.003080	0	0
MAP9	79884	broad.mit.edu	37	4	156281397	156281397	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:156281397C>A	ENST00000311277.4	-	7	1236	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.D301Y|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	325					cell division|mitosis	cytoplasm|microtubule|spindle		p.D325Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTCTGTCATCATCCATAATC	0.378000													13	42					9.31168e-06	9.76121e-06	0.001855	1	0
STAT5B	6777	broad.mit.edu	37	17	40362425	40362425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40362425C>T	ENST00000293328.3	-	14	1939	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	591	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTCACCCATCATTCCAATGA	0.448000													19	87					0	0	0.014323	0	0
EHMT1	79813	broad.mit.edu	37	9	140622883	140622883	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:140622883C>G	ENST00000460843.1	+	4	752	c.725C>G	c.(724-726)tCt>tGt	p.S242C	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.S242C|EHMT1_ENST00000334856.6_Missense_Mutation_p.S211C	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	242					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAAAACATTTCTGACTTTGGA	0.458000													11	85					0	0	0.008291	0	0
KANK4	163782	broad.mit.edu	37	1	62703988	62703988	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:62703988C>T	ENST00000371153.4	-	10	3327	c.2949G>A	c.(2947-2949)ctG>ctA	p.L983L	KANK4_ENST00000354381.3_Silent_p.L355L|KANK4_ENST00000371150.1_Silent_p.L339L|KANK4_ENST00000317477.4_Silent_p.L121L	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	983										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CGTGGGCTCTCAGAAGCCCAG	0.557000													7	29					0	0	0.001984	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	67					0	0	0.001168	0	0
NSD1	64324	broad.mit.edu	37	5	176709547	176709547	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176709547G>C	ENST00000439151.2	+	19	6019	c.5974G>C	c.(5974-5976)Gat>Cat	p.D1992H	NSD1_ENST00000361032.4_Missense_Mutation_p.D1889H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1723H|NSD1_ENST00000347982.4_Missense_Mutation_p.D1723H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1992	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAAGAACATGATATCACTAA	0.378000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	81					0	0	0.006320	0	0
SERPINB6	5269	broad.mit.edu	37	6	2954925	2954925	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:2954925G>C	ENST00000380520.1	-	3	2325	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	SERPINB6_ENST00000380539.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380529.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000335686.5_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380524.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380546.3_Missense_Mutation_p.Q111E			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	111					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TAGAATTTTTGGCAGGAATCT	0.443000													12	42					0	0	0.010729	0	0
LRRN1	57633	broad.mit.edu	37	3	3887186	3887186	+	Silent	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:3887186T>C	ENST00000319331.3	+	2	1622	c.861T>C	c.(859-861)ctT>ctC	p.L287L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	287						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAATATGCTTCGGTTAAAAG	0.438000													16	69					0	0	0.003163	0	0
MUC6	4588	broad.mit.edu	37	11	1016425	1016425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:1016425G>A	ENST00000421673.2	-	31	6426	c.6376C>T	c.(6376-6378)Cag>Tag	p.Q2126*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2126	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGACAGCTGATTAGTTGTG	0.527000													5	26					0	0	0.001168	0	0
TAP2	6891	broad.mit.edu	37	6	32782246	32782246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:32782246C>T	ENST00000452392.2	-	14	2488	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	HLA-DOB_ENST00000438763.2_Missense_Mutation_p.R165K			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GACCCCAGCTCTCTCCTCCTG	0.522000													29	98					0	0	0.008361	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69045102	69045102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:69045102G>A	ENST00000295381.3	+	8	1395	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E20K|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E320K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E327K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E320K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E319K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E287K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	326	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTCGAAGGTCGAAGACCCTGC	0.468000													15	36					0	0	0.004007	0	0
PHACTR4	65979	broad.mit.edu	37	1	28793131	28793131	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:28793131C>T	ENST00000373839.3	+	6	936	c.675C>T	c.(673-675)gtC>gtT	p.V225V	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.V235V	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	225							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCTCTGTCACCCCTTCCC	0.597000													11	36					0	0	0.010729	0	0
SFRP5	6425	broad.mit.edu	37	10	99527328	99527328	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:99527328G>A	ENST00000266066.3	-	3	1015	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	299	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		AGGGGTAGGAGAACATGAATT	0.567000													8	29					0	0	0.006214	0	0
FAM114A2	10827	broad.mit.edu	37	5	153390822	153390822	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:153390822G>A	ENST00000351797.4	-	9	1048	c.972C>T	c.(970-972)tcC>tcT	p.S324S	FAM114A2_ENST00000520667.1_Silent_p.S324S|FAM114A2_ENST00000522858.1_Silent_p.S324S|FAM114A2_ENST00000520313.1_Silent_p.S254S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	324							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCTCTGGTTTGGAGGAAACGT	0.368000													11	53					0	0	0.010729	0	0
IL17A	3605	broad.mit.edu	37	6	52053869	52053869	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:52053869G>C	ENST00000340057.1	+	3	292	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	83					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGAGGACCCTGAGAGATATCC	0.502000													8	28					0	0	0.003080	0	0
DNAJA1	3301	broad.mit.edu	37	9	33038791	33038791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:33038791G>A	ENST00000330899.4	+	9	1267	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	DNAJA1_ENST00000544625.1_Missense_Mutation_p.E205K	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	362					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GGACCAAGTAGAACTGGTGGA	0.468000													9	46					0	0	0.004482	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451158	87451158	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:87451158G>C	ENST00000268616.4	-	8	1097	c.880C>G	c.(880-882)Cag>Gag	p.Q294E		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	294					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCCTGGGTCTGAGGGGTCTGC	0.572000													46	132					0	0	0.014410	0	0
CCDC174	51244	broad.mit.edu	37	3	14706577	14706577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:14706577G>A	ENST00000383794.3	+	6	601	c.528G>A	c.(526-528)atG>atA	p.M176I	CCDC174_ENST00000303688.7_Missense_Mutation_p.M176I	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		GGCGCTGTATGAGAAAGGATT	0.473000													11	125					0	0	0.013537	0	0
LAMTOR4	389541	broad.mit.edu	37	7	99751027	99751027	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:99751027C>T	ENST00000441173.1	+	3	124	c.89C>T	c.(88-90)tCt>tTt	p.S30F	LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000341942.5_Missense_Mutation_p.S30F					late endosomal/lysosomal adaptor, MAPK and MTOR activator 4																		ATGCAGTCATCTGGGGACCTG	0.607000													32	114					0	0	0.003271	0	0
SUCLA2	8803	broad.mit.edu	37	13	48563043	48563043	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:48563043G>A	ENST00000378654.3	-	3	401	c.345C>T	c.(343-345)ctC>ctT	p.L115L	SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_Silent_p.L57L|SUCLA2_ENST00000534875.1_Silent_p.L57L|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	115	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTCCTCCTTTGAGGCCACTTT	0.328000													37	118					0	0	0.009718	0	0
FKBP10	60681	broad.mit.edu	37	17	39975508	39975508	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:39975508G>C	ENST00000321562.4	+	5	878	c.774G>C	c.(772-774)ctG>ctC	p.L258L		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	258	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACGTCCTCCTGATTGACGTGC	0.632000													27	73					0	0	0.004656	0	0
PTPN23	25930	broad.mit.edu	37	3	47448093	47448093	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:47448093C>G	ENST00000265562.4	+	8	827	c.750C>G	c.(748-750)gcC>gcG	p.A250A	PTPN23_ENST00000431726.1_Silent_p.A124A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	250	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTTCGCAGCCGTGGCTCATG	0.627000													9	23					0	0	0.004482	0	0
PRPF40B	25766	broad.mit.edu	37	12	50027427	50027427	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:50027427C>G	ENST00000261897.1	+	8	1055	c.504C>G	c.(502-504)gtC>gtG	p.V168V	PRPF40B_ENST00000548825.2_Silent_p.V196V|PRPF40B_ENST00000380281.1_Silent_p.V174V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	174					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGTTCTAGTCAAACAAGAGG	0.537000													4	46					0	0	0.001168	0	0
TMEM131	23505	broad.mit.edu	37	2	98409038	98409038	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:98409038C>G	ENST00000186436.5	-	31	4183	c.3955G>C	c.(3955-3957)Gaa>Caa	p.E1319Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1319	Pro-rich.					integral to membrane		p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACAGCCTTTCAGGCTGCGGC	0.677000													6	9					0	0	0.001168	0	0
RAB36	9609	broad.mit.edu	37	22	23495243	23495243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:23495243G>A	ENST00000263116.2	+	5	489	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	RAB36_ENST00000341989.4_Missense_Mutation_p.R128Q	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	150					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GTTTTTGATCGAGACTACAAG	0.493000													23	97					0	0	0.005443	0	0
ABCC9	10060	broad.mit.edu	37	12	22015908	22015908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:22015908C>T	ENST00000261200.4	-	18	2317	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	ABCC9_ENST00000261201.4_Missense_Mutation_p.G773E|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G737E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	773	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAGGACTTCCAAAAGTAAT	0.343000													5	27					0	0	0.000602	0	0
ZNF43	7594	broad.mit.edu	37	19	21992317	21992317	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:21992317G>A	ENST00000594012.1	-	7	1018	c.504C>T	c.(502-504)ttC>ttT	p.F168F	ZNF43_ENST00000595461.1_Silent_p.F168F|ZNF43_ENST00000598381.1_Silent_p.F168F|ZNF43_ENST00000354959.4_Silent_p.F174F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTGCATTTGAAAAGTTTTT	0.303000													11	13					0	0	0.008291	0	0
BIRC6	57448	broad.mit.edu	37	2	32605289	32605289	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:32605289C>T	ENST00000421745.2	+	3	710	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	192					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGATTTGTTCATCACACAGC	0.333000													3	10					0	0	0.004672	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013285	149013285	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:149013285G>C	ENST00000535454.1	+	4	788	c.239G>C	c.(238-240)tGg>tCg	p.W80S	MAGEA8_ENST00000542674.1_Missense_Mutation_p.W80S|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.W80S	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	80										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCACTCTGTGGAGCCAATCC	0.597000													14	52					0	0	0.001855	0	0
VAV1	7409	broad.mit.edu	37	19	6833552	6833552	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6833552C>G	ENST00000304076.2	+	17	1718	c.1624C>G	c.(1624-1626)Cag>Gag	p.Q542E	VAV1_ENST00000539284.1_Missense_Mutation_p.Q445E|VAV1_ENST00000602142.1_Missense_Mutation_p.Q542E|VAV1_ENST00000599806.1_Missense_Mutation_p.Q487E|VAV1_ENST00000596764.1_Missense_Mutation_p.Q510E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	542					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q542E(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TACCTTCTATCAGGGCTACCG	0.547000													20	95					0	0	0.002780	0	0
ZNF300	91975	broad.mit.edu	37	5	150275396	150275396	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:150275396C>G	ENST00000446148.2	-	7	1880	c.1453G>C	c.(1453-1455)Gaa>Caa	p.E485Q	ZNF300_ENST00000274599.5_Missense_Mutation_p.E469Q|ZNF300_ENST00000394226.2_Missense_Mutation_p.E469Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.E433Q|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCCACATTCAGTACATTCA	0.413000													12	45					0	0	0.013537	0	0
CHST10	9486	broad.mit.edu	37	2	101010229	101010229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:101010229G>C	ENST00000264249.3	-	7	934	c.549C>G	c.(547-549)ttC>ttG	p.F183L	CHST10_ENST00000409701.1_Missense_Mutation_p.F183L|CHST10_ENST00000542617.1_Missense_Mutation_p.F231L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	183					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TAAAAAACTTGAAGTATGTTT	0.423000													13	37					0	0	0.003163	0	0
OIP5	11339	broad.mit.edu	37	15	41602045	41602045	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:41602045C>G	ENST00000220514.3	-	5	656	c.597G>C	c.(595-597)ctG>ctC	p.L199L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	199					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCTTCTCTTTCAGCTAGGAAG	0.393000													20	54					0	0	0.007413	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017460	26017460	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:26017460C>T	ENST00000244573.3	-	1	580	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	167					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TTTTTGGATTCTTGGAGGATT	0.473000													41	156					0	0	0.007835	0	0
FGR	2268	broad.mit.edu	37	1	27942093	27942093	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:27942093C>T	ENST00000374005.3	-	9	1158	c.870G>A	c.(868-870)gtG>gtA	p.V290V	FGR_ENST00000545953.1_Silent_p.V224V|FGR_ENST00000374004.1_Silent_p.V290V|FGR_ENST00000399173.1_Silent_p.V290V	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	290	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCGTCTTCACCGCCACCT	0.682000													8	23					0	0	0.003080	0	0
HNF4A	3172	broad.mit.edu	37	20	43047076	43047076	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:43047076C>T	ENST00000316099.3	+	6	749	c.660C>T	c.(658-660)ctC>ctT	p.L220L	HNF4A_ENST00000415691.1_Silent_p.L220L|HNF4A_ENST00000457232.1_Silent_p.L198L|HNF4A_ENST00000443598.2_Silent_p.L220L	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	220					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGCCCTGCTCAGAGCCCATG	0.602000													25	84					0	0	0.005443	0	0
NCOR1	9611	broad.mit.edu	37	17	16029434	16029434	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:16029434C>G	ENST00000268712.3	-	15	1853	c.1596G>C	c.(1594-1596)aaG>aaC	p.K532N	NCOR1_ENST00000395848.1_Missense_Mutation_p.K423N|NCOR1_ENST00000395851.1_Missense_Mutation_p.K532N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	532					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		cttcatctttcttttcttctt	0.264000													3	7					0	0	0.004672	0	0
GSTA1	2938	broad.mit.edu	37	6	52659022	52659022	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:52659022C>T	ENST00000334575.5	-	5	470	c.315G>A	c.(313-315)atG>atA	p.M105I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	105	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GAAGGAGGATCATTTCACCCA	0.378000													43	108					0	0	0.007835	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410602	121410602	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:121410602C>G	ENST00000393667.3	-	14	7719	c.7609G>C	c.(7609-7611)Gaa>Caa	p.E2537Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2532Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2532					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGATCAGTTCTGCATCTAGC	0.398000													51	116					0	0	0.014410	0	0
WEE2	494551	broad.mit.edu	37	7	141408625	141408625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:141408625G>A	ENST00000397541.2	+	1	473	c.67G>A	c.(67-69)Gag>Aag	p.E23K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	23					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGAGGAGACTGAGATTGAAGG	0.443000													24	73					0	0	0.014323	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026823	176026823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176026823C>T	ENST00000303991.4	-	2	190	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	5						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGGTCTTCAGCAGTGTCC	0.612000													3	16					0	0	0.004672	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:6426892C>A	ENST00000348035.4	+	2	298	c.85C>A	c.(85-87)Cct>Act	p.P29T	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29T	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													20	54					9.95505e-16	1.07317e-15	0.014323	1	0
CCDC107	203260	broad.mit.edu	37	9	35660981	35660981	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:35660981G>A	ENST00000426546.2	+	5	715	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CCDC107_ENST00000327351.2_3'UTR|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.E190K|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000421582.2_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	217						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGGAGGACGAGGAGGAGAT	0.557000													19	91					0	0	0.007413	0	0
SLMAP	7871	broad.mit.edu	37	3	57857389	57857389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:57857389G>A	ENST00000295951.3	+	12	2379	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	SLMAP_ENST00000295952.3_Missense_Mutation_p.D388N|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000428312.1_Missense_Mutation_p.D405N|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000383718.3_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	405					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAGTGGCGGGGACTGCACTTT	0.358000													9	38					0	0	0.010729	0	0
TMCC2	9911	broad.mit.edu	37	1	205238423	205238423	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:205238423G>C	ENST00000358024.3	+	3	1482	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	TMCC2_ENST00000329800.7_Missense_Mutation_p.E125Q|TMCC2_ENST00000330675.7_Missense_Mutation_p.E140Q|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.E287Q	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	365						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGGAGATTGAGCAGAACGG	0.632000													9	9					0	0	0.004482	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74365132	74365132	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:74365132C>G	ENST00000290438.3	-	13	1492	c.1452G>C	c.(1450-1452)caG>caC	p.Q484H		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	484										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCTGTTGGTTCTGGTGGCTGG	0.622000													5	85					0	0	0.001168	0	0
NSRP1	84081	broad.mit.edu	37	17	28506198	28506198	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:28506198G>C	ENST00000247026.5	+	5	454	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	131	Necessary for alternative splicing activity.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAGAGAACGAGAAATGGAAAA	0.353000													5	19					0	0	0.001168	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327631	49327631	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:49327631A>G	ENST00000559471.1	-	3	691	c.428T>C	c.(427-429)aTc>aCc	p.I143T	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I143T	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	143										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCTGTGGTGATAGCATTTAC	0.483000													24	95					0	0	0.003330	0	0
ABCD1	215	broad.mit.edu	37	X	153006073	153006073	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:153006073G>A	ENST00000218104.3	+	7	2079	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	560	ABC transporter.		P -> L (in X-ALD; CALD-type).|P -> R (in X-ALD; AMN and ALMD-types).|P -> S (in X-ALD).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATCTACCCGGACTCAGTGG	0.637000													15	54					0	0	0.003163	0	0
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:74757145G>A	ENST00000258080.3	+	1	642	c.12G>A	c.(10-12)ccG>ccA	p.P4P	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P4P	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	4					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	p.P4P(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCTGCGCCGAGGGCGGGGC	0.741000													8	33					0	0	0.008291	0	0
NEURL4	84461	broad.mit.edu	37	17	7228995	7228995	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7228995G>C	ENST00000399464.2	-	7	1346	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C	NEURL4_ENST00000570460.1_Missense_Mutation_p.S422C|NEURL4_ENST00000315614.7_Missense_Mutation_p.S444C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGTAGGGCAGAGTTGGACTT	0.567000													25	86					0	0	0.005443	0	0
SF1	7536	broad.mit.edu	37	11	64536578	64536578	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:64536578G>C	ENST00000377390.3	-	8	1140	c.803C>G	c.(802-804)tCa>tGa	p.S268*	SF1_ENST00000433274.2_Nonsense_Mutation_p.S242*|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Nonsense_Mutation_p.S268*|SF1_ENST00000422298.2_Nonsense_Mutation_p.S153*|SF1_ENST00000227503.9_Nonsense_Mutation_p.S268*|SF1_ENST00000377394.3_Nonsense_Mutation_p.S268*|SF1_ENST00000377387.1_Nonsense_Mutation_p.S393*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	268					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.S268L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGGTCTCTGAGCTCTGCCA	0.488000													16	82					0	0	0.003163	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871880	8871880	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:8871880G>C	ENST00000256707.3	-	30	4467	c.4286C>G	c.(4285-4287)tCa>tGa	p.S1429*	KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.S1330*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.S1410*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.S1410*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1429					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCTAGGTTTGAATGAATAGA	0.463000													29	99					0	0	0.010818	0	0
SBNO2	22904	broad.mit.edu	37	19	1109708	1109708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:1109708G>A	ENST00000361757.3	-	27	3334	c.3097C>T	c.(3097-3099)Cag>Tag	p.Q1033*	SBNO2_ENST00000587024.1_Nonsense_Mutation_p.Q1023*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.Q976*	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1033					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCGTCCTGCGGGTGCCCG	0.672000													10	34					0	0	0.001855	0	0
CCDC129	223075	broad.mit.edu	37	7	31614170	31614170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:31614170G>T	ENST00000319386.3	+	7	1405	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.E164*|CCDC129_ENST00000407970.3_Nonsense_Mutation_p.E138*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E46*			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	138										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAATGGCTGGAATTTTGGGA	0.438000													29	102					4.02929e-09	4.31304e-09	0.010818	1	0
TREM1	54210	broad.mit.edu	37	6	41250194	41250194	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:41250194G>C	ENST00000591620.1	-	2	371	c.345C>G	c.(343-345)atC>atG	p.I115M	TREM1_ENST00000334475.6_Missense_Mutation_p.I115M|TREM1_ENST00000589614.1_Missense_Mutation_p.I115M|TREM1_ENST00000244709.4_Missense_Mutation_p.I115M	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	115	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	GAGGCTGGTAGATCACACACT	0.537000													6	27					0	0	0.001984	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50656779	50656779	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50656779G>C	ENST00000248846.5	-	23	5111	c.5007C>G	c.(5005-5007)ttC>ttG	p.F1669L	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1669					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTCGTGCTTGAACAGCTGCA	0.632000													12	36					0	0	0.002450	0	0
C14orf166B	145497	broad.mit.edu	37	14	77319694	77319694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:77319694G>A	ENST00000393774.3	+	9	1073	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	317										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CATCGGCAATGAAGGGGCCTC	0.532000													7	26					0	0	0.001984	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114494	27114494	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:27114494C>G	ENST00000396891.4	-	1	125	c.84G>C	c.(82-84)aaG>aaC	p.K28N	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.K28N	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	28					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCTTGCGCTTCTTGCCGTCCT	0.597000													20	142					0	0	0.012319	0	0
GJA3	2700	broad.mit.edu	37	13	20716822	20716822	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:20716822G>C	ENST00000241125.3	-	2	782	c.606C>G	c.(604-606)atC>atG	p.I202M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	202					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGATGATGAAGATGGTCTTCT	0.612000													13	36					0	0	0.002450	0	0
TOR1B	27348	broad.mit.edu	37	9	132566591	132566591	+	Missense_Mutation	SNP	C	C	T	rs78770065		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:132566591C>T	ENST00000259339.2	+	2	499	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	147					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GCACTTCCCTCATGAGCAGAA	0.483000													26	82					0	0	0.006320	0	0
JMJD1C	221037	broad.mit.edu	37	10	64946111	64946111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:64946111C>T	ENST00000399262.2	-	19	6821	c.6603G>A	c.(6601-6603)atG>atA	p.M2201I	JMJD1C_ENST00000402544.1_Missense_Mutation_p.M1964I|JMJD1C_ENST00000542921.1_Missense_Mutation_p.M2019I|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2201					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCTAATGTTCATTTTCTTAT	0.338000													8	32					0	0	0.003080	0	0
EGFR	1956	broad.mit.edu	37	7	55241688	55241688	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:55241688C>G	ENST00000275493.2	+	18	2313	c.2136C>G	c.(2134-2136)ttC>ttG	p.F712L	EGFR_ENST00000454757.2_Missense_Mutation_p.F659L|EGFR_ENST00000455089.1_Missense_Mutation_p.F667L|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	712	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F712F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAACTGAATTCAAAAAGATCA	0.562000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	49					0	0	0.003163	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843231	40843231	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40843231C>G	ENST00000264638.4	+	14	2353	c.2136C>G	c.(2134-2136)atC>atG	p.I712M	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	712	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCCTGGGATCCAGCGCTGTG	0.617000													13	95					0	0	0.002450	0	0
COG4	25839	broad.mit.edu	37	16	70553601	70553601	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:70553601C>G	ENST00000323786.5	-	2	226	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	COG4_ENST00000393612.4_Missense_Mutation_p.E65Q|COG4_ENST00000564653.1_Missense_Mutation_p.E69Q	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	65	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTTTGCTGTTCCAAAAGAGCA	0.433000													4	24					0	0	0.000602	0	0
NDUFA5	4698	broad.mit.edu	37	7	123185709	123185709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:123185709C>T	ENST00000471770.1	-	4	339	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000355749.2_Missense_Mutation_p.E69K			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	69					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	AGTTGGTCTTCTAATTTTTTA	0.313000													13	51					0	0	0.003163	0	0
SLC8A3	6547	broad.mit.edu	37	14	70518823	70518823	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:70518823C>G	ENST00000381269.2	-	5	2668	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H	SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000216568.7_Missense_Mutation_p.D10H|SLC8A3_ENST00000533541.1_5'UTR|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000394330.2_5'UTR|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D633H|SLC8A3_ENST00000357887.3_Splice_Site	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	639					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGCTTCCTGTCTGTCACATCT	0.458000													24	59					0	0	0.003954	0	0
COL6A2	1292	broad.mit.edu	37	21	47546045	47546045	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:47546045C>G	ENST00000300527.4	+	26	2420	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	COL6A2_ENST00000397763.1_Silent_p.L772L|COL6A2_ENST00000409416.1_Silent_p.L772L|COL6A2_ENST00000357838.4_Silent_p.L772L|COL6A2_ENST00000310645.5_Silent_p.L772L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	772	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GTGAAAACCTCTACTCCATCG	0.587000													48	143					0	0	0.014410	0	0
EIF4G1	1981	broad.mit.edu	37	3	184044351	184044351	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184044351C>T	ENST00000342981.4	+	21	3676	c.3262C>T	c.(3262-3264)Cct>Tct	p.P1088S	EIF4G1_ENST00000414031.1_Missense_Mutation_p.P1047S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P1094S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P1094S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P1087S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P891S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P1048S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P923S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P1087S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P1094S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P1001S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P1000S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P892S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P924S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1087					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTTTGCACCTGGAGGGCG	0.597000													18	47					0	0	0.008871	0	0
AHNAK	79026	broad.mit.edu	37	11	62298786	62298786	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62298786C>G	ENST00000378024.4	-	5	3377	c.3103G>C	c.(3103-3105)Gat>Cat	p.D1035H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1035					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTAGTATCTACTTTTGGT	0.463000													14	84					0	0	0.001855	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000956	204000956	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:204000956C>G	ENST00000449802.1	+	27	4616	c.4283C>G	c.(4282-4284)tCt>tGt	p.S1428C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1428							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGACTTCTCTTTACTTGAA	0.363000													11	40					0	0	0.013537	0	0
BDP1	55814	broad.mit.edu	37	5	70841044	70841044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:70841044G>A	ENST00000358731.4	+	32	7005	c.6742G>A	c.(6742-6744)Gag>Aag	p.E2248K	BDP1_ENST00000380675.2_Missense_Mutation_p.E384K	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2248					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCCTGTGCCAGAGGTAAAAGA	0.373000													12	48					0	0	0.001855	0	0
SNHG1	23642	broad.mit.edu	37	11	62620401	62620401	+	RNA	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62620401C>G	ENST00000384756.1	-	0	106					NR_000008.2																						ACAGTTCCTTCTGGAACAAAT	0.423000													18	64					0	0	0.007413	0	0
ADAM15	8751	broad.mit.edu	37	1	155030888	155030888	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:155030888C>T	ENST00000356955.2	+	15	1989	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ADAM15_ENST00000355956.2_Silent_p.L630L|ADAM15_ENST00000368413.1_Silent_p.L336L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Silent_p.L640L|ADAM15_ENST00000271836.6_Silent_p.L630L|ADAM15_ENST00000360674.4_Silent_p.L630L|ADAM15_ENST00000359280.4_Silent_p.L630L|ADAM15_ENST00000447332.3_Silent_p.L614L|ADAM15_ENST00000449910.2_Silent_p.L630L|ADAM15_ENST00000368410.2_Silent_p.L336L|ADAM15_ENST00000368412.3_Silent_p.L630L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	630	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTCCTGACTCTGCCTGGCAC	0.597000													8	24					0	0	0.006214	0	0
CA14	23632	broad.mit.edu	37	1	150233959	150233959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:150233959G>A	ENST00000369111.4	+	3	1148	c.178G>A	c.(178-180)Gat>Aat	p.D60N		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	60						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTTGACCCTGATTTGCCTGC	0.552000													14	36					0	0	0.003163	0	0
HLA-A	3105	broad.mit.edu	37	6	29912344	29912344	+	Silent	SNP	G	G	A	rs45513603		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:29912344G>A	ENST00000396634.1	+	7	1304	c.963G>A	c.(961-963)gtG>gtA	p.V321V	HLA-A_ENST00000376806.5_Silent_p.V321V|HLA-A_ENST00000376809.5_Silent_p.V321V|HLA-A_ENST00000376802.2_Intron			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	321					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTGGAGCTGTGATCACTGGAG	0.592000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			29	47					0	0	0.007835	0	0
FPGS	2356	broad.mit.edu	37	9	130569916	130569916	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:130569916C>T	ENST00000373245.1	+	8	743	c.693C>T	c.(691-693)ctC>ctT	p.L231L	FPGS_ENST00000393706.2_Silent_p.L205L|FPGS_ENST00000373225.3_Silent_p.L181L|FPGS_ENST00000373247.2_Silent_p.L231L|FPGS_ENST00000460181.1_3'UTR			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	231					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	ACACCAGCCTCCTGGGGGATA	0.622000													4	25					0	0	0.001984	0	0
UBR4	23352	broad.mit.edu	37	1	19478158	19478158	+	Missense_Mutation	SNP	C	C	T	rs55848569		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:19478158C>T	ENST00000375267.2	-	48	7195	c.7192G>A	c.(7192-7194)Gat>Aat	p.D2398N	UBR4_ENST00000375254.3_Missense_Mutation_p.D2398N|UBR4_ENST00000375217.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375226.2_Missense_Mutation_p.D2398N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2398					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCTTCTTATCAGCCTGCAGG	0.537000													21	54					0	0	0.002780	0	0
BCAR3	8412	broad.mit.edu	37	1	94037340	94037340	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:94037340C>T	ENST00000370244.1	-	11	2149	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	BCAR3_ENST00000370243.1_Missense_Mutation_p.E621K|BCAR3_ENST00000539242.1_Missense_Mutation_p.E297K|BCAR3_ENST00000370247.3_Missense_Mutation_p.E530K|BCAR3_ENST00000260502.6_Missense_Mutation_p.E621K	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	621	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GCTCGGTCCTCCAAAGTGCCC	0.557000													6	90					0	0	0.001984	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67236139	67236139	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:67236139G>A	ENST00000282670.2	+	3	317	c.189G>A	c.(187-189)caG>caA	p.Q63Q	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	63										large_intestine(2)|lung(10)|skin(1)	13						TTACAGTTCAGATGGAAAACA	0.348000													33	105					0	0	0.005524	0	0
SUMO3	6612	broad.mit.edu	37	21	46226908	46226908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:46226908C>T	ENST00000397898.3	-	4	402	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SUMO3_ENST00000332859.6_Silent_p.T90T|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.T128T			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	0					protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GCACACCTCCCGTCTGCTGCT	0.612000													10	35					0	0	0.008291	0	0
SACS	26278	broad.mit.edu	37	13	23912713	23912713	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:23912713G>C	ENST00000382298.3	-	10	5890	c.5302C>G	c.(5302-5304)Cac>Gac	p.H1768D	SACS_ENST00000402364.1_Missense_Mutation_p.H1018D|SACS_ENST00000382292.3_Missense_Mutation_p.H1768D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1768					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACACATGGTGAAATTCTTCC	0.443000													22	140					0	0	0.012319	0	0
DOHH	83475	broad.mit.edu	37	19	3494073	3494073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3494073C>T	ENST00000427575.1	-	3	755	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DOHH_ENST00000250937.3_Missense_Mutation_p.E102K	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	102					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGAACTTCCGGGTCCCCG	0.632000													5	14					0	0	0.000602	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084799	147084799	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:147084799A>T	ENST00000370467.3	+	2	430	c.356A>T	c.(355-357)gAt>gTt	p.D119V		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	119						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAAGAAGATTCCGCATTG	0.353000													26	62					0	0	0.003330	0	0
SPATA5	166378	broad.mit.edu	37	4	123844435	123844435	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:123844435G>A	ENST00000274008.3	+	1	207	c.138G>A	c.(136-138)ctG>ctA	p.L46L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	46					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGGGACTCTGACGGTGACCA	0.587000													35	84					0	0	0.003755	0	0
ASTN2	23245	broad.mit.edu	37	9	119976688	119976688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:119976688G>C	ENST00000313400.4	-	3	1064	c.964C>G	c.(964-966)Ctg>Gtg	p.L322V	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.L322V|ASTN2_ENST00000373996.3_Missense_Mutation_p.L322V			O75129	ASTN2_HUMAN	astrotactin 2	322						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGACTGTCCAGAGTGTGGGTC	0.552000													16	114					0	0	0.004007	0	0
CXCL3	2921	broad.mit.edu	37	4	74904074	74904074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:74904074G>A	ENST00000296026.4	-	2	234	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	53					immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			TTCTTGAGGTGAATTCCCTGC	0.607000													15	61					0	0	0.002450	0	0
DAAM1	23002	broad.mit.edu	37	14	59821922	59821922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:59821922C>T	ENST00000395125.1	+	20	2449	c.2426C>T	c.(2425-2427)gCc>gTc	p.A809V	DAAM1_ENST00000351081.1_Missense_Mutation_p.A809V|DAAM1_ENST00000360909.3_Missense_Mutation_p.A799V|DAAM1_ENST00000553966.1_Intron	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	809	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGGAGTGGTGCCCTCAAGCAG	0.378000													40	118					0	0	0.014410	0	0
HRNR	388697	broad.mit.edu	37	1	152191644	152191644	+	Missense_Mutation	SNP	C	C	G	rs141963410		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:152191644C>G	ENST00000368801.2	-	3	2536	c.2461G>C	c.(2461-2463)Gag>Cag	p.E821Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	821					keratinization		calcium ion binding|protein binding	p.E821*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACTCGTGTTGCCCA	0.567000													11	45					0	0	0.008291	0	0
NMT1	4836	broad.mit.edu	37	17	43159088	43159088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43159088G>A	ENST00000592782.1	+	3	339	c.208G>A	c.(208-210)Gag>Aag	p.E70K	NMT1_ENST00000258960.2_Missense_Mutation_p.E70K|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	70					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				aaaaGGCAGTGAGACAGATTC	0.383000													7	8					0	0	0.001984	0	0
PTDSS1	9791	broad.mit.edu	37	8	97299316	97299316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:97299316C>T	ENST00000517309.1	+	4	709	c.383C>T	c.(382-384)tCt>tTt	p.S128F	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Intron	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	128					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CAGGTTAAATCTCTAATGTAT	0.433000													31	185					0	0	0.008361	0	0
AHNAK	79026	broad.mit.edu	37	11	62296833	62296833	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62296833C>G	ENST00000378024.4	-	5	5330	c.5056G>C	c.(5056-5058)Gat>Cat	p.D1686H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1686					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCAACATCTGGCACTTTC	0.488000													71	259					0	0	0.014410	0	0
WDR44	54521	broad.mit.edu	37	X	117526862	117526862	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:117526862G>C	ENST00000254029.3	+	4	849	c.454G>C	c.(454-456)Gat>Cat	p.D152H	WDR44_ENST00000371822.5_Missense_Mutation_p.D127H|WDR44_ENST00000371825.3_Missense_Mutation_p.D152H|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	152	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAACCAGTAGATGAAACCAC	0.378000													25	91					0	0	0.009535	0	0
CPEB1	64506	broad.mit.edu	37	15	83221346	83221346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:83221346C>A	ENST00000563800.1	-	8	2890	c.1165G>T	c.(1165-1167)Gaa>Taa	p.E389*	CPEB1_ENST00000568757.1_Nonsense_Mutation_p.E287*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.E367*|RP11-152F13.10_ENST00000562833.1_Silent_p.S96S|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.E287*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.E136*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.E365*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.E292*|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.E287*|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.E362*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.E287*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	367	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTCTCTAGTTCGAAGACCAGA	0.493000													18	56					4.96729e-08	5.25237e-08	0.008871	1	0
TLE2	7089	broad.mit.edu	37	19	3028341	3028341	+	Silent	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3028341C>A	ENST00000262953.6	-	3	424	c.162G>T	c.(160-162)acG>acT	p.T54T	TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000586422.1_5'UTR|TLE2_ENST00000443826.3_5'UTR|TLE2_ENST00000590536.1_Silent_p.T54T|TLE2_ENST00000591529.1_Silent_p.T67T|TLE2_ENST00000426948.2_Silent_p.T67T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	54	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCATTTCCGTCTTCTCGC	0.592000													4	10					0.000602214	0.000620587	0.000602	1	0
PPP1R42	286187	broad.mit.edu	37	8	67926687	67926687	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:67926687G>C	ENST00000522909.1	-	3	454	c.270C>G	c.(268-270)ctC>ctG	p.L90L	PPP1R42_ENST00000517834.1_Intron|PPP1R42_ENST00000324682.5_Silent_p.L90L			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	90																	TTAATGACCTGAGGTTCTCTA	0.289000													12	68					0	0	0.003163	0	0
NOS2	4843	broad.mit.edu	37	17	26114730	26114730	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:26114730G>A	ENST00000313735.6	-	5	674	c.441C>T	c.(439-441)gtC>gtT	p.V147V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	147					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AATATTGGTTGACAAATTCGA	0.537000													23	82					0	0	0.002780	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837643	12837643	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:12837643C>T	ENST00000357726.4	+	3	1380	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	451										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATTGTGTTCAGCACTGTCC	0.527000													25	73					0	0	0.004656	0	0
KCNH4	23415	broad.mit.edu	37	17	40318431	40318431	+	Missense_Mutation	SNP	G	G	A	rs140560707		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40318431G>A	ENST00000264661.3	-	10	2056	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	KCNH4_ENST00000607371.1_Missense_Mutation_p.S575L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	575					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCGCAGAACGAGGTCTTGAT	0.622000													4	24					0	0	0.009096	0	0
VIT	5212	broad.mit.edu	37	2	37028511	37028511	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:37028511G>C	ENST00000379242.3	+	13	1428	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	VIT_ENST00000401530.1_Missense_Mutation_p.E340Q|VIT_ENST00000497382.1_Missense_Mutation_p.E30Q|VIT_ENST00000379241.3_Missense_Mutation_p.E339Q|VIT_ENST00000404084.1_Missense_Mutation_p.E313Q|VIT_ENST00000389975.3_Missense_Mutation_p.E361Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	361	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GACAGCCATAGAGAAAATTAC	0.393000													39	106					0	0	0.010771	0	0
TBP	6908	broad.mit.edu	37	6	170873691	170873691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:170873691C>T	ENST00000392092.2	+	4	835	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	TBP_ENST00000540980.1_Missense_Mutation_p.R166C|TBP_ENST00000230354.6_Missense_Mutation_p.R186C	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	186					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CATTGCACTTCGTGCCCGAAA	0.318000													11	34					0	0	0.013537	0	0
RNF213	57674	broad.mit.edu	37	17	78317686	78317686	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:78317686C>G	ENST00000582970.1	+	28	6356	c.6213C>G	c.(6211-6213)ttC>ttG	p.F2071L	RNF213_ENST00000336301.6_Missense_Mutation_p.F144L|RNF213_ENST00000508628.2_Missense_Mutation_p.F2120L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.F144L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTTTCTTTTCAAGCTCCTCA	0.438000													18	89					0	0	0.010504	0	0
KIF4B	285643	broad.mit.edu	37	5	154397020	154397020	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:154397020G>C	ENST00000435029.4	+	1	3761	c.3601G>C	c.(3601-3603)Gaa>Caa	p.E1201Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1201	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGAGCAACAGAATACCAACA	0.507000													7	25					0	0	0.001984	0	0
ACACB	32	broad.mit.edu	37	12	109613984	109613984	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:109613984G>C	ENST00000338432.7	+	9	1472	c.1353G>C	c.(1351-1353)ttG>ttC	p.L451F	ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.L451F|ACACB_ENST00000377854.5_Missense_Mutation_p.L451F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	451	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GTTTTCCATTGATGATCAAAG	0.512000													119	164					0	0	0.014410	0	0
RAD18	56852	broad.mit.edu	37	3	8940660	8940660	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:8940660C>A	ENST00000264926.2	-	11	1356	c.1240G>T	c.(1240-1242)Gaa>Taa	p.E414*		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	414					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGTCAGGTTCCAATTCCTCT	0.368000								Rad6 pathway					9	31					1.76689e-08	1.88469e-08	0.006214	1	0
BBS2	583	broad.mit.edu	37	16	56535295	56535295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56535295G>C	ENST00000245157.5	-	10	1615	c.1195C>G	c.(1195-1197)Cat>Gat	p.H399D	BBS2_ENST00000568104.1_Missense_Mutation_p.H399D	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	399					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AATTCTGTATGAGCAGTTTGG	0.478000									Bardet-Biedl syndrome				36	127					0	0	0.004878	0	0
YLPM1	56252	broad.mit.edu	37	14	75279341	75279341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:75279341G>C	ENST00000325680.7	+	11	5482	c.5358G>C	c.(5356-5358)agG>agC	p.R1786S	YLPM1_ENST00000552421.1_Missense_Mutation_p.R1080S|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1591S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGAACGAAGGACTTATCCTG	0.443000													5	8					0	0	0.001168	0	0
HSPA4	3308	broad.mit.edu	37	5	132439956	132439956	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:132439956C>G	ENST00000304858.2	+	19	2640	c.2351C>G	c.(2350-2352)tCa>tGa	p.S784*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	784					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTATAATTTCAAAGCCCAAA	0.433000													11	41					0	0	0.013537	0	0
OR2AT4	341152	broad.mit.edu	37	11	74799889	74799889	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:74799889G>C	ENST00000305159.3	-	1	910	c.870C>G	c.(868-870)ctC>ctG	p.L290L		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGAGGGGGTTGAGAATTGGTG	0.483000													20	61					0	0	0.010504	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46926688	46926688	+	Silent	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:46926688C>A	ENST00000258947.3	+	5	593	c.492C>A	c.(490-492)atC>atA	p.I164I	CALCOCO2_ENST00000448105.2_Silent_p.I188I|CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000508679.1_Silent_p.I92I|CALCOCO2_ENST00000509507.1_Silent_p.I185I	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	164					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACAGCTGTATCAGCCTCCAGA	0.473000													32	72					2.68265e-12	2.87663e-12	0.013726	1	0
UBC	7316	broad.mit.edu	37	12	125398224	125398224	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:125398224C>G	ENST00000536769.1	-	1	1670	c.94G>C	c.(94-96)Gat>Cat	p.D32H	UBC_ENST00000339647.5_Missense_Mutation_p.D32H|UBC_ENST00000538617.1_Missense_Mutation_p.D32H|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000546120.1_Missense_Mutation_p.D32H			P0CG48	UBC_HUMAN	ubiquitin C	32	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTCCTTATCTTGGATCTTT	0.502000													13	175					0	0	0.003163	0	0
SPINK9	643394	broad.mit.edu	37	5	147715230	147715230	+	Splice_Site	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:147715230C>T	ENST00000377906.1	+	1	109	c.55_splice	c.e1+1	p.F18_splice	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	18						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCATGTTCAGTGAGTATC	0.433000													10	80					0	0	0.006214	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517923	84517923	+	RNA	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:84517923C>T	ENST00000331369.5	+	0	117																											CGTGTGTCCTCGCAAGACTAG	0.587000													3	17					0	0	0.004672	0	0
TUBD1	51174	broad.mit.edu	37	17	57963531	57963531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:57963531G>A	ENST00000325752.3	-	3	510	c.233C>T	c.(232-234)tCa>tTa	p.S78L	TUBD1_ENST00000340993.6_Missense_Mutation_p.S78L|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.S78L|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.S78L|TUBD1_ENST00000376094.4_Missense_Mutation_p.S78L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	78					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GGCAGCCTTTGACAGCATTTG	0.413000													6	75					0	0	0.001984	0	0
SNHG1	23642	broad.mit.edu	37	11	62620412	62620412	+	RNA	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62620412C>G	ENST00000384756.1	-	0	95					NR_000008.2																						TGGAACAAATCTTCCTCTTCT	0.413000													15	63					0	0	0.004990	0	0
TRPV5	56302	broad.mit.edu	37	7	142605909	142605909	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:142605909G>C	ENST00000265310.1	-	15	2309	c.1961C>G	c.(1960-1962)tCa>tGa	p.S654*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	654					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTTGTCTGAGTTCTTGAA	0.522000													9	34					0	0	0.008291	0	0
ZNF444	55311	broad.mit.edu	37	19	56658417	56658417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:56658417G>T	ENST00000337080.3	+	3	504	c.137G>T	c.(136-138)cGg>cTg	p.R46L	ZNF444_ENST00000592949.1_Missense_Mutation_p.R46L	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	46	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCCCTGTGCCGGGACTGGCTG	0.746000													4	5					0.00024832	0.000257643	0.009096	1	0
GAK	2580	broad.mit.edu	37	4	844827	844827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:844827G>A	ENST00000314167.4	-	26	3664	c.3554C>T	c.(3553-3555)tCc>tTc	p.S1185F	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S1106F	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1185					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCTTGATTGGACAACAGATC	0.468000													25	75					0	0	0.004656	0	0
MYO9B	4650	broad.mit.edu	37	19	17311114	17311114	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:17311114G>C	ENST00000595618.1	+	25	4403	c.4251G>C	c.(4249-4251)aaG>aaC	p.K1417N	MYO9B_ENST00000397274.2_Missense_Mutation_p.K1417N|MYO9B_ENST00000594824.1_Missense_Mutation_p.K1417N	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1417	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCACGTTTAAGAGGCTTTTTC	0.502000													4	22					0	0	0.009096	0	0
PTPRF	5792	broad.mit.edu	37	1	44069508	44069508	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069508G>A	ENST00000359947.4	+	16	3025	c.2685G>A	c.(2683-2685)aaG>aaA	p.K895K	PTPRF_ENST00000438120.1_Silent_p.K886K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.K886K|PTPRF_ENST00000372414.3_Silent_p.K895K|PTPRF_ENST00000422171.2_Silent_p.K243K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	895	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGCTGCCAAGAACCGGGCTG	0.607000													11	26					0	0	0.008291	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710554	233710554	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:233710554G>A	ENST00000373566.3	+	27	3681	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1162K|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E1140K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1134K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1161K|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1140K			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1140					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGTGGTGTGAACAGATGCT	0.453000													11	40					0	0	0.001855	0	0
MTIF3	219402	broad.mit.edu	37	13	28009980	28009980	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:28009980G>C	ENST00000381116.1	-	7	903	c.669C>G	c.(667-669)ttC>ttG	p.F223L	MTIF3_ENST00000405591.2_Missense_Mutation_p.F223L|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.F223L|MTIF3_ENST00000431572.2_Missense_Mutation_p.F223L			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	223					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GCCTAGATGAGAATGTAGCTA	0.383000													19	61					0	0	0.006122	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266071	3266071	+	RNA	SNP	A	A	G	rs2550401	by1000genomes	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:3266071A>G	ENST00000576468.1	+	0	418																											GCCAACTCGAATGCTCTGCTG	0.562000													3	39					0	0	0.004672	0	0
BAG6	7917	broad.mit.edu	37	6	31606973	31606973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31606973C>T	ENST00000404765.2	-	26	3713	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K	BAG6_ENST00000375964.6_Missense_Mutation_p.E1112K|BAG6_ENST00000211379.5_Missense_Mutation_p.E1106K|BAG6_ENST00000375976.4_Missense_Mutation_p.E1106K|BAG6_ENST00000362049.6_Missense_Mutation_p.E1057K|BAG6_ENST00000439687.2_Missense_Mutation_p.E883K			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1112					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGGGGTCTTCCTGCAGTCGT	0.537000													3	19					0	0	0.004672	0	0
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				13	55					0	0	0.004007	0	0
PAG1	55824	broad.mit.edu	37	8	81899695	81899695	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:81899695C>G	ENST00000220597.4	-	6	894	c.184G>C	c.(184-186)Gac>Cac	p.D62H		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	62					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ATCTCCTTGTCTGAAGGCTGa	0.448000													7	66					0	0	0.001984	0	0
KDM6B	23135	broad.mit.edu	37	17	7752247	7752247	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7752247G>A	ENST00000254846.5	+	11	3030	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	KDM6B_ENST00000448097.2_Missense_Mutation_p.E881K	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	881	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGGCCCGGGAGCGCAGGGC	0.716000													4	11					0	0	0.000602	0	0
BIRC3	330	broad.mit.edu	37	11	102195711	102195711	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:102195711G>A	ENST00000263464.3	+	2	3221	c.471G>A	c.(469-471)ttG>ttA	p.L157L	BIRC3_ENST00000532808.1_Silent_p.L157L	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	157					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTTCTGCCTTGATGAGAAGTT	0.408000			T	MALT1	MALT								49	150					0	0	0.014410	0	0
WDR37	22884	broad.mit.edu	37	10	1123898	1123898	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:1123898C>G	ENST00000358220.1	+	3	334	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	WDR37_ENST00000263150.4_Missense_Mutation_p.Q64E|WDR37_ENST00000381329.1_Missense_Mutation_p.Q64E			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	64										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ACTGTTTGGTCAAATAGAAAG	0.318000													19	63					0	0	0.002780	0	0
SMAD3	4088	broad.mit.edu	37	15	67482843	67482843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:67482843C>T	ENST00000327367.4	+	9	1557	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	SMAD3_ENST00000537194.2_Missense_Mutation_p.S221F|SMAD3_ENST00000439724.3_Missense_Mutation_p.S372F|SMAD3_ENST00000540846.2_Missense_Mutation_p.S311F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	416	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAGATGGGCTCCCCAAGCATC	0.547000													14	15					0	0	0.002450	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103596165	103596165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:103596165G>A	ENST00000560869.1	+	4	1588	c.949G>A	c.(949-951)Gag>Aag	p.E317K	TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.E317K			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	317					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCGACTGCTGGAGGCCACATT	0.662000													7	19					0	0	0.001984	0	0
MYO1F	4542	broad.mit.edu	37	19	8587564	8587564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:8587564C>T	ENST00000338257.8	-	26	3271	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1002						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGTTGTGCTCTGAGGGCGGA	0.687000													7	24					0	0	0.001984	0	0
CCDC113	29070	broad.mit.edu	37	16	58296295	58296295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58296295G>C	ENST00000219299.4	+	6	713	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.E158Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	212						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GTAGAAGGAAGAGGTGAGTGA	0.418000													29	94					0	0	0.013726	0	0
SETDB1	9869	broad.mit.edu	37	1	150923439	150923439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:150923439G>A	ENST00000271640.5	+	13	2276	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.E696K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGTCAATGAGATTGACAC	0.468000													16	52					0	0	0.007413	0	0
SETD3	84193	broad.mit.edu	37	14	99929847	99929847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:99929847C>G	ENST00000331768.5	-	3	331	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	SETD3_ENST00000329331.3_Missense_Mutation_p.E58Q|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Missense_Mutation_p.E58Q	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	58					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGTATTTTCTCAACCAGAGTC	0.413000													4	22					0	0	0.009096	0	0
PCGF3	10336	broad.mit.edu	37	4	755157	755157	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:755157C>G	ENST00000362003.5	+	9	948	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	PCGF3_ENST00000521023.2_Missense_Mutation_p.L151V|PCGF3_ENST00000505655.2_Missense_Mutation_p.L185V|PCGF3_ENST00000470161.2_Missense_Mutation_p.L185V	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CGTCTTGCATCTGAAGAAGTT	0.488000													18	51					0	0	0.004990	0	0
HOOK1	51361	broad.mit.edu	37	1	60334000	60334000	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:60334000G>C	ENST00000371208.3	+	20	2181	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	HOOK1_ENST00000395561.2_Missense_Mutation_p.E600Q|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	642					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGCAGAGAAAGAGAGAAGAAT	0.303000													11	37					0	0	0.008291	0	0
WT1	7490	broad.mit.edu	37	11	32417879	32417879	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:32417879G>A	ENST00000332351.3	-	7	1457	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	WT1_ENST00000379079.2_Silent_p.F179F|WT1_ENST00000530998.1_Silent_p.F162F|WT1_ENST00000448076.3_Silent_p.F391F	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	323					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGCACACATGAAGGGGCGTT	0.542000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				17	49					0	0	0.007413	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704300	68704300	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:68704300G>C	ENST00000255078.3	+	13	2463	c.2352G>C	c.(2350-2352)aaG>aaC	p.K784N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	784	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGTGAGCAAGAGGGCCCCGC	0.682000													5	17					0	0	0.001168	0	0
MCC	4163	broad.mit.edu	37	5	112418582	112418582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:112418582C>T	ENST00000302475.4	-	9	1752	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	MCC_ENST00000515367.2_Missense_Mutation_p.E334K|MCC_ENST00000408903.3_Missense_Mutation_p.E587K|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	397					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTTCCACCTCAAACTCTCTA	0.478000													23	81					0	0	0.005443	0	0
KCNH4	23415	broad.mit.edu	37	17	40318439	40318439	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40318439G>C	ENST00000264661.3	-	10	2048	c.1716C>G	c.(1714-1716)atC>atG	p.I572M	KCNH4_ENST00000607371.1_Missense_Mutation_p.I572M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	572					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGAGGTCTTGATGTGCAGCG	0.627000													5	21					0	0	0.000602	0	0
TFAP2A	7020	broad.mit.edu	37	6	10404933	10404933	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:10404933G>C	ENST00000379613.3	-	4	834	c.578C>G	c.(577-579)tCc>tGc	p.S193C	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S185C|TFAP2A_ENST00000482890.1_Missense_Mutation_p.S191C|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S187C|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S191C			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	191					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S191C(1)|p.S185C(1)|p.S187C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGGATGGCGGAGACGGCATT	0.627000													11	52					0	0	0.010729	0	0
PHLPP1	23239	broad.mit.edu	37	18	60642651	60642651	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:60642651G>A	ENST00000400316.4	+	16	4022	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	PHLPP1_ENST00000262719.5_Silent_p.Q1259Q	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1259					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CTGCTGGGCAGAAGCTTGGTG	0.527000													7	84					0	0	0.001984	0	0
BMP6	654	broad.mit.edu	37	6	7861772	7861772	+	Missense_Mutation	SNP	C	C	G	rs147293908	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:7861772C>G	ENST00000283147.6	+	3	1105	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	316					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CACTAGCAATCTGTGGGTTGT	0.502000													30	88					0	0	0.007291	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499472	31499472	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:31499472G>C	ENST00000330498.3	+	8	1018	c.999G>C	c.(997-999)atG>atC	p.M333I	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	333					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TGCCAGGCATGATCAGCCGCA	0.627000													24	90					0	0	0.003330	0	0
THBS2	7058	broad.mit.edu	37	6	169623478	169623478	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:169623478C>G	ENST00000366787.3	-	19	3115	c.2866G>C	c.(2866-2868)Gag>Cag	p.E956Q	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	956					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AAGTCTGTCTCACTGATGGCA	0.468000													13	67					0	0	0.002450	0	0
PAGE5	90737	broad.mit.edu	37	X	55247872	55247872	+	Silent	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:55247872T>C	ENST00000289619.5	+	2	362	c.117T>C	c.(115-117)tcT>tcC	p.S39S	PAGE5_ENST00000374952.1_Silent_p.S19S|PAGE5_ENST00000374955.3_Silent_p.S19S	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	39										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						ACCAAGAGTCTTCCCAGCCAG	0.348000													25	53					0	0	0.007291	0	0
PHTF2	57157	broad.mit.edu	37	7	77558594	77558594	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:77558594C>G	ENST00000416283.2	+	10	1312	c.1186C>G	c.(1186-1188)Cag>Gag	p.Q396E	PHTF2_ENST00000307305.8_Missense_Mutation_p.Q392E|PHTF2_ENST00000424760.1_Missense_Mutation_p.Q392E|PHTF2_ENST00000422959.2_Missense_Mutation_p.Q396E|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000248550.7_Missense_Mutation_p.Q430E|PHTF2_ENST00000275575.7_Missense_Mutation_p.Q392E	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGAAAATCATCAGATTAATCC	0.388000													5	14					0	0	0.000602	0	0
PIM3	415116	broad.mit.edu	37	22	50356510	50356510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50356510C>T	ENST00000360612.4	+	5	1225	c.790C>T	c.(790-792)Cca>Tca	p.P264S		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	264	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGGTCTCTCCAGGTGCGTG	0.682000													8	25					0	0	0.006214	0	0
COL24A1	255631	broad.mit.edu	37	1	86289244	86289244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:86289244C>T	ENST00000370571.2	-	45	4130	c.3764G>A	c.(3763-3765)gGa>gAa	p.G1255E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1255E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1255	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTTTTAGTCCTTGTTCACC	0.338000													21	60					0	0	0.014323	0	0
KIAA1109	84162	broad.mit.edu	37	4	123109097	123109097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:123109097C>G	ENST00000264501.4	+	9	1048	c.675C>G	c.(673-675)atC>atG	p.I225M	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I225M|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I225M			Q2LD37	K1109_HUMAN	KIAA1109	225					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCTGTGCATCAACTTTGATG	0.358000													13	52					0	0	0.002450	0	0
PCDH17	27253	broad.mit.edu	37	13	58207078	58207078	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:58207078C>G	ENST00000377918.3	+	1	424	c.398C>G	c.(397-399)tCc>tGc	p.S133C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	133	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTCCTTCTCCTCGGACCAG	0.612000													6	11					0	0	0.001984	0	0
AKAP11	11215	broad.mit.edu	37	13	42876840	42876840	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:42876840C>G	ENST00000025301.2	+	8	4133	c.3958C>G	c.(3958-3960)Ctt>Gtt	p.L1320V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1320					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCGTTTATTCTTTCATTACC	0.398000													5	45					0	0	0.000602	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559329	1559329	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:1559329C>G	ENST00000381605.4	-	2	152	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E30Q|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E29Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.E30Q	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	30	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCTCGTCCTCACCTGCCACT	0.507000													7	93					0	0	0.003080	0	0
IFNA8	3445	broad.mit.edu	37	9	21409280	21409280	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:21409280G>A	ENST00000380205.1	+	1	135	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	35					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TGGGTAACAGGAGGGCCTTGA	0.498000													30	85					0	0	0.007291	0	0
POLR1E	64425	broad.mit.edu	37	9	37486584	37486584	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:37486584C>T	ENST00000377792.3	+	1	435	c.147C>T	c.(145-147)ttC>ttT	p.F49F	POLR1E_ENST00000442009.2_Intron|POLR1E_ENST00000377798.4_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	49					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		ACCCGAGCTTCCTTGCCATCC	0.582000													9	11					0	0	0.004482	0	0
RUFY2	55680	broad.mit.edu	37	10	70156607	70156607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:70156607G>A	ENST00000388768.2	-	4	759	c.433C>T	c.(433-435)Cga>Tga	p.R145*	RUFY2_ENST00000602465.1_Nonsense_Mutation_p.R110*|RUFY2_ENST00000342616.4_Nonsense_Mutation_p.R110*|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.R52*|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	159	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AGGGCTAATCGAAGCCACGCT	0.428000													17	38					0	0	0.008871	0	0
LCP1	3936	broad.mit.edu	37	13	46733075	46733075	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:46733075G>C	ENST00000398576.2	-	6	502	c.114C>G	c.(112-114)ttC>ttG	p.F38L	LCP1_ENST00000323076.2_Missense_Mutation_p.F38L			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	38	EF-hand 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AAGCAGCCTTGAACAAGTCAT	0.433000			T	BCL6	NHL								31	90					0	0	0.010818	0	0
TDRD6	221400	broad.mit.edu	37	6	46660213	46660213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:46660213G>T	ENST00000544460.1	+	1	4602	c.4348G>T	c.(4348-4350)Gaa>Taa	p.E1450*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1450*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1450					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATAAGATGTGAATTTGTTAA	0.383000													33	109					2.5098e-30	2.7347e-30	0.004878	1	0
YIPF2	78992	broad.mit.edu	37	19	11036435	11036435	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:11036435G>A	ENST00000586748.1	-	5	466	c.294C>T	c.(292-294)atC>atT	p.I98I	YIPF2_ENST00000253031.2_Silent_p.I98I|YIPF2_ENST00000590329.1_Silent_p.I98I			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	98						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGAGCCTTTGATCCGGTCCA	0.602000													8	18					0	0	0.004482	0	0
MYCBP2	23077	broad.mit.edu	37	13	77699528	77699528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:77699528C>G	ENST00000407578.2	-	54	8226	c.7960G>C	c.(7960-7962)Gag>Cag	p.E2654Q	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.E79Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E2616Q|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E2616Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GACCATGCCTCTCCTTCATCA	0.433000													43	162					0	0	0.010771	0	0
MYPN	84665	broad.mit.edu	37	10	69881415	69881415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:69881415G>A	ENST00000358913.5	+	2	708	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	MYPN_ENST00000540630.1_Missense_Mutation_p.E74K|MYPN_ENST00000373675.3_Missense_Mutation_p.E74K|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	74	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGAATTAGACGAAAGTGTCAA	0.488000													12	50					0	0	0.013537	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129851244	129851244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:129851244G>A	ENST00000373425.3	-	5	2073	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.R184*|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	486	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGGTTCGGTCGGATCATCATC	0.607000													23	111					0	0	0.003330	0	0
CWF19L1	55280	broad.mit.edu	37	10	102003530	102003530	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:102003530C>A	ENST00000354105.4	-	10	1055	c.969G>T	c.(967-969)caG>caT	p.Q323H	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q78H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	323							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTCCTGGAGGCTGAGCTTCAT	0.443000													29	90					1.88708e-17	2.04518e-17	0.008361	1	0
CENPI	2491	broad.mit.edu	37	X	100382652	100382652	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100382652G>C	ENST00000372927.1	+	10	1349	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	CENPI_ENST00000372926.1_Missense_Mutation_p.E358Q|CENPI_ENST00000218507.5_Missense_Mutation_p.E358Q|CENPI_ENST00000423383.1_Missense_Mutation_p.E358Q	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	358					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CCATTGCTTAGAGGTATGTGA	0.353000													41	103					0	0	0.014410	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147457	1147457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:1147457C>A	ENST00000379236.3	-	5	503	c.499G>T	c.(499-501)Gag>Tag	p.E167*	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	167					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCCTGTCCTCACAGATTGCG	0.662000													6	18					0.00198382	0.00203057	0.001984	1	0
GGNBP2	79893	broad.mit.edu	37	17	34937844	34937844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:34937844G>A	ENST00000304718.4	+	9	1407	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	364					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.R364L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAAGAGGAACGAGTAAGAGAA	0.368000													29	60					0	0	0.008361	0	0
CACNA1A	773	broad.mit.edu	37	19	13356019	13356019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:13356019C>T	ENST00000360228.5	-	31	4926	c.4927G>A	c.(4927-4929)Gat>Aat	p.D1643N	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1644N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1644					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACGAGGATATCGGTGATGCTG	0.582000													18	38					0	0	0.012319	0	0
AL133373.1	0	broad.mit.edu	37	14	92040776	92040776	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:92040776C>T	ENST00000596306.1	-	1	607	c.181G>A	c.(181-183)Gag>Aag	p.E61K																								AGCCGCCGCTCGGGTGTACTG	0.657000													5	8					0	0	0.000602	0	0
TRPM6	140803	broad.mit.edu	37	9	77354741	77354741	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:77354741G>A	ENST00000451710.3	-	33	5634	c.5397C>T	c.(5395-5397)ctC>ctT	p.L1799L	TRPM6_ENST00000376872.3_Silent_p.L750L|TRPM6_ENST00000361255.3_Silent_p.L1790L|TRPM6_ENST00000449912.2_Silent_p.L1790L|TRPM6_ENST00000376864.4_Silent_p.L1799L|TRPM6_ENST00000360774.1_Silent_p.L1795L|TRPM6_ENST00000376871.3_Silent_p.L632L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1795	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTCCCGGCTTGAGAATGTCAT	0.507000													53	71					0	0	0.014410	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862525	25862525	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:25862525G>C	ENST00000397060.4	-	3	348	c.239C>G	c.(238-240)tCt>tGt	p.S80C	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S80C|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S80C	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	80					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGCACCTCAGAGGAATCATT	0.428000													5	64					0	0	0.000602	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928297	92928297	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:92928297C>G	ENST00000373079.3	-	1	270	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	NAP1L3_ENST00000475430.1_Intron	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	3					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AAATCTGCTTCTGCCATCTTG	0.562000													17	55					0	0	0.008871	0	0
DNM2	1785	broad.mit.edu	37	19	10870479	10870479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:10870479C>T	ENST00000314646.5	+	2	391	c.227C>T	c.(226-228)tCa>tTa	p.S76L	DNM2_ENST00000408974.4_Missense_Mutation_p.S76L|DNM2_ENST00000389253.4_Missense_Mutation_p.S76L|DNM2_ENST00000359692.6_Missense_Mutation_p.S76L|DNM2_ENST00000355667.6_Missense_Mutation_p.S76L|DNM2_ENST00000585892.1_Missense_Mutation_p.S76L			P50570	DYN2_HUMAN	dynamin 2	76					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCATCTTCTCAAAAACAGGT	0.577000			"""F, N, Splice, Mis, O"""		ETP ALL								33	97					0	0	0.013726	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364681	43364681	+	RNA	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43364681C>A	ENST00000344686.2	-	0	484							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATTTTGCCCTCTGTAGCATGG	0.522000													7	31					0.000157383	0.000163571	0.003080	1	0
DOHH	83475	broad.mit.edu	37	19	3494056	3494056	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3494056C>T	ENST00000427575.1	-	3	772	c.321G>A	c.(319-321)ctG>ctA	p.L107L	DOHH_ENST00000250937.3_Silent_p.L107L	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	107					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AATACTGCTTCAGGATCTCCA	0.642000													4	15					0	0	0.009096	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134893	114134893	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:114134893G>A	ENST00000259335.4	-	43	4877	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I	KIAA0368_ENST00000338205.5_Silent_p.I1448I|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGGTCTTGTAGATAGGTTCTG	0.348000													4	22					0	0	0.009096	0	0
TMEM209	84928	broad.mit.edu	37	7	129841908	129841908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:129841908C>T	ENST00000397622.2	-	5	477	c.355G>A	c.(355-357)Gat>Aat	p.D119N	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.D118N|TMEM209_ENST00000462753.1_Missense_Mutation_p.D118N|TMEM209_ENST00000473456.1_Missense_Mutation_p.D119N	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	119						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCTGCCAGATCATGTGGAGGC	0.428000													7	29					0	0	0.004482	0	0
EXTL2	2135	broad.mit.edu	37	1	101339776	101339776	+	Missense_Mutation	SNP	C	C	T	rs142198700		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:101339776C>T	ENST00000370114.3	-	5	2151	c.715G>A	c.(715-717)Gat>Aat	p.D239N	EXTL2_ENST00000370113.3_Missense_Mutation_p.D239N|EXTL2_ENST00000535414.1_Missense_Mutation_p.D226N	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	239					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTGAGTATCATCTATCAAA	0.383000													7	14					0	0	0.001984	0	0
APOL1	8542	broad.mit.edu	37	22	36661869	36661869	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:36661869G>C	ENST00000319136.4	+	7	1302	c.1035G>C	c.(1033-1035)atG>atC	p.M345I	APOL1_ENST00000422706.1_Missense_Mutation_p.M329I|APOL1_ENST00000397278.3_Missense_Mutation_p.M329I|APOL1_ENST00000347595.7_Missense_Mutation_p.M208I|APOL1_ENST00000426053.1_Missense_Mutation_p.M311I|APOL1_ENST00000397279.4_Missense_Mutation_p.M329I	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	329					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTGGAAATGAGCAGAGGAG	0.542000													6	47					0	0	0.001984	0	0
USP32	84669	broad.mit.edu	37	17	58288742	58288742	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:58288742G>C	ENST00000300896.4	-	20	2507	c.2313C>G	c.(2311-2313)ctC>ctG	p.L771L	USP32_ENST00000592339.1_Silent_p.L441L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTACCTGTTGAGTTCATAAA	0.408000													8	120					0	0	0.006214	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114079395	114079395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:114079395T>C	ENST00000356501.4	-	5	675	c.500A>G	c.(499-501)gAc>gGc	p.D167G	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.D249G	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	249					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			ATCATAATTGTCGGGGAAGAT	0.438000													15	69					0	0	0.007413	0	0
ADAM11	4185	broad.mit.edu	37	17	42855094	42855094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:42855094G>A	ENST00000200557.6	+	23	2102	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	ADAM11_ENST00000535346.1_Missense_Mutation_p.D445N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	645	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGACGGCTCTGACCTGAGCTA	0.642000													9	31					0	0	0.006214	0	0
HAS3	3038	broad.mit.edu	37	16	69148496	69148496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:69148496G>A	ENST00000306560.1	+	4	1145	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	330					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R330Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582000													16	40					0	0	0.004990	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018660	58018660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:58018660C>T	ENST00000379218.2	+	11	1657	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Silent_p.V413V			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	0	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCTCCAGGTCCCGGGGCTCT	0.587000													19	69					0	0	0.012319	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365574	30365574	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:30365574C>T	ENST00000305596.3	-	3	323	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D50N	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	50					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TCCTCCTCATCGCTATCCAAA	0.527000													61	189					0	0	0.014410	0	0
LRP6	4040	broad.mit.edu	37	12	12284896	12284896	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:12284896C>T	ENST00000261349.4	-	18	3905	c.3829G>A	c.(3829-3831)Gaa>Aaa	p.E1277K	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1277	LDL-receptor class A 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGTGGTCTTCACATTCAGTA	0.498000													11	51					0	0	0.008291	0	0
NTM	50863	broad.mit.edu	37	11	132082033	132082033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:132082033C>G	ENST00000374786.1	+	3	997	c.518C>G	c.(517-519)tCt>tGt	p.S173C	NTM_ENST00000374784.1_Missense_Mutation_p.S173C|NTM_ENST00000539799.1_Missense_Mutation_p.S173C|NTM_ENST00000427481.2_Missense_Mutation_p.S164C|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.S173C|NTM_ENST00000425719.2_Missense_Mutation_p.S173C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	173	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGACACATCTCTCCCAAAGGT	0.443000													18	66					0	0	0.006122	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8650504	8650504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:8650504C>T	ENST00000270328.4	-	22	2967	c.2701G>A	c.(2701-2703)Gat>Aat	p.D901N	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.D388N|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.D901N			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	901	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACGCCTGCATCGCAGCTGCGG	0.672000													7	13					0	0	0.003080	0	0
SYNE2	23224	broad.mit.edu	37	14	64691209	64691209	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:64691209G>C	ENST00000357395.3	+	114	20643	c.9499G>C	c.(9499-9501)Gag>Cag	p.E3167Q	SYNE2_ENST00000458046.2_Missense_Mutation_p.E453Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E660Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6782Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3439Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E565Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6698Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.E327Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3167Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6805Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6782					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGCTTCGACGAGGTAGACTC	0.517000													9	83					0	0	0.008291	0	0
FDX1	2230	broad.mit.edu	37	11	110306635	110306635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:110306635C>T	ENST00000260270.2	+	2	501	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	88	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GTTGGTGATTCTCTGCTAGAT	0.323000													12	39					0	0	0.001855	0	0
MYRIP	25924	broad.mit.edu	37	3	40223839	40223839	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:40223839G>A	ENST00000302541.6	+	9	1344	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	MYRIP_ENST00000444716.1_Silent_p.K334K|MYRIP_ENST00000396217.3_Silent_p.K245K|MYRIP_ENST00000539167.1_Silent_p.K147K|MYRIP_ENST00000425621.1_Silent_p.K334K|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	334	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCAGCTGGAAGAGTGTGGACA	0.522000													9	29					0	0	0.004482	0	0
PLEKHB1	58473	broad.mit.edu	37	11	73372592	73372592	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:73372592G>C	ENST00000354190.5	+	8	1108	c.677G>C	c.(676-678)gGa>gCa	p.G226A	PLEKHB1_ENST00000398492.4_Missense_Mutation_p.G191A|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.G172A|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.G207A|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.G172A|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.G121A	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	226					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						ATGCTTGCGGGAGCCGCCACT	0.692000											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	62					0	0	0.003080	0	0
OXLD1	339229	broad.mit.edu	37	17	79632428	79632428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:79632428C>A	ENST00000374741.3	-	2	257	c.247G>T	c.(247-249)Gag>Tag	p.E83*	OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR	NM_001039842.1	NP_001034931.1			oxidoreductase-like domain containing 1																		GGCTGGAGCTCAGGTGGCAGC	0.657000													8	23					1.76689e-08	1.88469e-08	0.006214	1	0
NOTCH2	4853	broad.mit.edu	37	1	120480487	120480487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:120480487delG	ENST00000256646.2	-	20	3549	c.3330delC	c.(3328-3330)tcfs	p.S1110fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1110	EGF-like 29.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTCTCCTGGAGGCTGCTA	0.483			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				14	43	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187549762	187549763	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187549762_187549763insA	ENST00000441802.2	-	8	4687_4688	c.4478_4479insT	c.(4477-4479)ccafs	p.P1493fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1493	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TACTGCTCTGCAGAGTGTAGAT	0.416										HNSCC(5;0.00058)			12	48	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													2	4	---	---	---	---					
IFT81	28981	broad.mit.edu	37	12	110628806	110628806	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:110628806delG	ENST00000242591.5	+	13	1926	c.1420delG	c.(1420-1422)aafs	p.E474fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.E474fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	474					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ACTGAAGAGTGAAGTTGATGA	0.333													34	76	---	---	---	---					
LONP2	83752	broad.mit.edu	37	16	48286135	48286135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:48286135delG	ENST00000285737.4	+	2	420	c.327delG	c.(325-327)cafs	p.Q109fs	LONP2_ENST00000535754.1_Frame_Shift_Del_p.Q109fs	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	109	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCCGTTTCCAGATTGTACAGG	0.507													14	30	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs66598941		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)del	p.E1033del	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													4	6	---	---	---	---					
RAP1GAP2	23108	broad.mit.edu	37	17	2930332	2930332	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:2930332delC	ENST00000254695.8	+	22	2165	c.2075delC	c.(2074-2076)gcfs	p.A692fs	RAP1GAP2_ENST00000542807.1_Frame_Shift_Del_p.A692fs|RAP1GAP2_ENST00000540393.2_Frame_Shift_Del_p.A673fs|RAP1GAP2_ENST00000366401.4_Frame_Shift_Del_p.A677fs	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	692	Ser-rich.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGGCAGCTGCCACCCCGATC	0.647													2	4	---	---	---	---					
TMPRSS15	5651	broad.mit.edu	37	21	19725330	19725331	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:19725330_19725331insA	ENST00000284885.3	-	10	1093_1094	c.1060_1061insT	c.(1060-1062)tttfs	p.F354fs		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	354	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.C354F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GACCCAGAAACAAAAGCCATCC	0.332													27	93	---	---	---	---					
